List of Rare Diseases

This register lists the rare diseases recognised in Malaysia, with the ICD-11 code for each. Use the search box to find a condition by name or by code, or filter to a single category.

Source: Malaysia Rare Disease List, May 2026 — publisher to be confirmed before this page is published (ledger Q8).

Search by disease name or ICD-11 code

Rare Cancer 36

494 Adenoid cystic carcinoma of lung or bronchus 2C25.Y
495 Adrenocortical carcinoma 2D11.Z; 5A72.0
496 Advanced melanoma (Stage III or Stage IV) 2E2Z
497 Primary Central Nervous System Lymphoma 2B33.5; 2A8Z; 2A81.5
498 Primary malignant bone tumours (osteosarcoma, adamantinoma, chondrosarcoma, chordoma, Ewing sarcoma of bone, malignant giant cell tumour, etc.) 2B5Z
499 Carcinoid tumour (well-differentiated neuroendocrine tumour) of biliary tract 2C17.2
500 Carcinoid tumour (well-differentiated neuroendocrine tumour) of breast 2C6Y
501 Carcinoid tumour (well-differentiated neuroendocrine tumour) of lung or bronchus 2C25.4
502 Carcinoid tumour (well-differentiated neuroendocrine tumour) of gastrointestinal tract 2B72.1 (stomach); 2B80.01 (duodenum); 2880.11 (jejunum or ileum); 2B81.2 (appendix); 2892.1 (rectum)
503 Carcinoma of anus or anal canal 2000.Y
504 Dermatofibrosarcoma protuberans 2B53.Y
505 Ependymoma of brain 2400.ΟΥ
506 Adrenal ganglioneuroblastoma 2400.21
507 Primary adrenal sarcomas 2D11.Y
508 Giant cell carcinoma of bronchus or lung 2C25.Y
509 Intracranial Germ Cell Tumor of brain 2A00.1Y XH5FJ5
510 lodine refractory thyroid cancer 2D10.Y
511 Klatskin tumor of bile duct 2C18.0
512 Neuroendocrine carcinoma of adrenal gland 2D11.Y
513 Liposarcoma of adrenal gland 2D11.Y
514 Primary extranodal lymphomas 2A85.3
515 Malignant pleural mesothelioma 2C26.0
516 Medulloblastoma of brain 2A00.10
517 Melanoma of anus or anal canal 2000.1
518 Neuroblastoma 2D11.2; 2A02.11
519 Oligodendroglioma of brain 2400.ΟΥ
520 Phylloides tumor of breast 2F75
521 Solitary plasmacytoma 2A83.2
522 Intracranial plasmacytoma 2A83.2; 2A83.3
523 Primary sarcoma of the bladder 2C94.Y
524 Primary breast sarcoma 2C6Y
525 Anaplastic large cell lymphoma 2B31.5
526 Multiple Myeloma 2B11
527 Hodgkin's Disease 2B30
528 Anal sarcoma 2C00.Y; 2C00.Z
529 Gallbladder carcinoma 2C13.0

Rare Cardiac & Pulmonary Diseases 15

364 Monogenic arrhythmia disorders/Inherited primary arrhythmia syndromes (Congenital Long QT syndrome, Short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT), etc.) BC65.Z; BC65.Y; BC65.1; BC65.0; BC65.5
365 Congenital tracheoesophageal fistula LB12.2; LB12.1Y
366 Cystic fibrosis CA25.0; CA25.1
367 Idiopathic pulmonary hemosiderosis CB04.30
368 Pulmonary arterial hypertension BB01.0
369 Hereditary (inherited) cardiomyopathy BC43.Z; BC43.00; BC43.10; BC43.2Z; BC43.6
370 Primary ciliary dyskinesia LA75.Y
371 Primary interstitial lung disease CB04.Z; CB04.Y
372 Hereditary hemorrhagic telangiectasia LA90.00
373 Tranthyretin Amyloid Cardiomyopathy (ATTR-CM) 5D00.0; 5D00.20; BC43.20
374 Congenital diaphragmatic hernia LB00.0
375 Pulmonary Alveolar Proteinosis CB04.31
376 Lymphangioleiomyomatosis CB07.Z; CB07.0
377 Congenital (monogenic) surfactant deficiency CB04.2
378 Familial hypercholesterolaemia - homozygous 5C80.00

Rare Diseases Affecting Bone 12

296 CARTILAGE AND CONNECTIVE TISSUE Achondroplasia
297 CARTILAGE AND CONNECTIVE TISSUE Ehlers-Danlos syndrome (EDS) (Hypermobile EDS (HEDS); Classical EDS (CEDS); Vascular EDS (vEDS); ...etc.)
298 CARTILAGE AND CONNECTIVE TISSUE Fibrodysplasia Ossificans Progressiva (FOP)
299 CARTILAGE AND CONNECTIVE TISSUE Hypophosphatasia
300 CARTILAGE AND CONNECTIVE TISSUE Osteogenesis imperfecta
301 CARTILAGE AND CONNECTIVE TISSUE Osteopetrosis
302 CARTILAGE AND CONNECTIVE TISSUE Specific skeletal dysplasias (Campomelic Dysplasia, Spondyloepiphyseal Dysplasia, Cleidocranial Dysplasia, Hypochondroplasia, Thanatophoric Dysplasia, Caffey disease, Dyssegmental dysplasia; Kniest dysplasia, Pseudoachondroplasia, etc.)
303 CARTILAGE AND CONNECTIVE TISSUE Syndromic craniosynostosis (Crouzon syndrome, Apert syndrome, Carpenter syndrome, Saethre-Chotzen syndrome, Muenke syndrome, Antley-Bixler syndrome, etc.)
304 CARTILAGE AND CONNECTIVE TISSUE Osteonecrosis (avascular necrosis)
305 CARTILAGE AND CONNECTIVE TISSUE Pigmented villonodular synovitis (Tenosynovial giant cell tumor)
306 CARTILAGE AND CONNECTIVE TISSUE Legg-Calvé-Perthes disease
307 CARTILAGE AND CONNECTIVE TISSUE Systemic Scleroderma

Rare Endocrine Diseases 29

267 Acromegaly (pituitary gigantism) 5A60.0
268 Alstrom syndrome LD2H.Y
269 Bardet-Biedl syndrome 5A61.0
270 Central diabetes insipidus 5A61.5
271 Congenital adrenal hyperplasia 5A71.01
272 Congenital adrenal hypoplasia LC80
273 Congenital hyperinsulinism (Persistent hyperinsulinaemic hypoglycaemia of infancy) 5A45
274 Craniopharyngioma 2F9A; 2F7A.Y
275 Cushing syndrome due to macronodular adrenal hyperplasia 5A70.Y
276 Cushing disease 5A70.0
277 Disorders of sex development (DSD) LD2A.Z; LD2A.Y; LD2A.0; LD2A.4; LD2A.3
278 Leprechaunism 5A44
279 Multiple Endocrine Neoplasia (MEN) syndromes 2F7A.0
280 Von Hippel-Lindau disease 5A75
281 Hypophosphatemic rickets (X-Linked Hypophosphatemic Rickets (XLHR); Autosomal Dominant Hypophosphatemic Rickets (ADHR); Autosomal Recessive Hypophosphatemic Rickets (ARHR); Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH); Hypophosphatemia, Hypercalcemia, and Nephrocalcinosis (HHN)) 5C63.22
282 Kallmann syndrome 5A61.2
283 Laron syndrome (Laron Dwarfism) 5A61.0
284 Neonatal diabetes mellitus KB60.2Z; KB60.2Z
285 Nephrogenic diabetes insipidus GB90.4A
286 Neuroendocrine neoplasm 2D4Y
287 GL13-related Pallister-Hall syndrome LD2F.1Y
288 Phaeochromocytoma 5A75; 2D11.1
289 Polyostotic fibrous dysplasia (non-syndromic or asscociated with McCune- Albright syndrome) FB80.0
290 Primary adrenocortical insufficiency 5A74.0
291 Primary pituitary hypophysitis 5A61.0
292 Pseudohypoaldosteronism type 1 due to loss-of-function mutations in SCNN1A/B/G genes (renal form) or NR3C2 (systemic form) GB90.41
293 Pseudohypoparathyroidism (Type 1a, 1b, 2) 5A50.1
294 Vitamin D-dependent rickets (Type 1, 2, 3) 5C63.20
295 Wolfram syndrome (DIDMOAD) 5A61.5

Rare Eye Diseases 8

486 Familial exudative vitreoretinopathy LA13.3
487 Norrie disease LD21.Y
488 Retinitis pigmentosa 9B70
489 Leber Congenital Amaurosis 9B70
490 Anophthalmia/Microphthalmia LA10.1; LA10.0; LD21.0
491 Cone-rod Dystrophy 9B70
492 Coloboma LA11.4; LA13.2; LA14.00; LA13.76; LA13.1
493 Axenfeld-Rieger syndrome LD2F.1Y

Rare Gastrointestinal & Hepatic Diseases 16

409 Congenital bile acid synthesis defect 5C52.11
410 Hereditary haemochromatosis 5C64.10
411 Progressive familial intrahepatic cholestasis 5C58.03
412 Congenital Sucrase-Isomaltase Deficiency 5C61.2
413 Peutz-Jeghers syndrome LD2D.0
414 Short bowel syndrome DA96.04; KB89.1
415 Congenital (monogenic) diarrheas and enteropathies (Congenital sodium diarrhoea, Congenital sodium diarrhoea, Glucose-Galactose Malabsorption, ...etc.) DA90.1; 5C61.0
416 Primary Biliary Cholangitis DB96.1Z; DB96.1Y
417 Primary Sclerosing Cholangitis DB96.2Z; DB96.2Y; DB96.20
418 Autoimmune Hepatitis DB96.0
419 Familial adenomatous polyposis 2B90.Y
420 Budd-Chiari Syndrome DB98.5
421 Congenital biliary atresia LB20.21
422 Crohn's disease DD70.Z
423 Hirschsprung Disease LB16.1
424 Alagille syndrome LB20.0Y

Rare Haematological Diseases 23

333 Acquired Haemophilia A & B 3B22
334 AL amyloidosis 5D00.0
335 Atypical haemolytic uremic syndrome (aHUS) 3A10.Y; 3A21.Y
336 Cold haemagglutinin disease (CHAD) 3A20.1
337 Hereditary pure red cell aplasia (Diamond Blackfan anemia) 3A60.1
338 Erdheim-Chester disease 2B31.Y
339 Glanzmann thrombasthenia 3862.ΟΥ
340 Haemophagocytic lymphohistiocytosis (Primary/secondary) 4A01.23
341 Haemophilia A 3B10.0
342 Haemophilia B 3B11.0
343 Langerhans cell histiocytosis 2B31.2Z; 2B31.2Y
344 Multicentric Castleman Disease (idiopathic/HHV-8 associated) 4B2Y; 2A81.Y
345 Paroxysmal nocturnal haemoglobinuria 3A21.0
346 POEMS syndrome 2483.Y
347 Primary (inherited) thrombophilia 3B61.0
348 Severe aplastic anaemia (Hereditary/acquired) 3A70.Z
349 Purpura fulminans (acquired/inherited) 3B20; ΚΑ88
350 Thrombotic thrombocytopenic purpura (TTP) (acquired/inherited) 3B64.14
351 Wiskott-Aldrich syndrome 3862.ΟΥ
352 Methemoglobinemia 3A91; 3A93; 3A92
353 Congenital factor VII deficiency 3B14.Z
354 Polycythemia vera 2A20.4
355 Von Willebrand disease (VWD) type 3 3B12

Rare Immunological Diseases 8

356 Immunodeficiencies affecting cellular and humoral immunity 4A01.1Z; 4A01.1Y; 4A01.10
357 Combined immunodeficiencies with associated or syndromic features (congenital thrombocytopenia, DNA repair defects, immunoosseous dysplasias (IODs), thymic defects with additional congenital anomalies, hyper-immunoglobulin E syndromes, etc.) 4A01.1 (other ICD11 codes based on syndrome)
358 Predominantly Antibody Deficiencies ( Common Variable Immunodeficiency (CVID), X-linked Agammaglobulinemia (XLA), Selective IgA Deficiency, Specific Antibody Deficiency (SAD)) 4A01.0Z; 4A01.ΟΥ
359 Diseases of Immune Dysregulation (Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome; Autoimmune Lymphoproliferative Syndrome (ALPS); Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome; Macrophage Activation Syndrome (MAS); ...etc.) 4A01.2Z; 4A01.2Y
360 Congenital defects of phagocyte number or function (ELANE-related Neutropenia; ShwachmanDiamond -Syndrome; Chronic Granulomatous Disease; Leukocyte Adhesion Deficiency (LAD) I, II, III; ....etc.) 4A00.0
361 Defects in Intrinsic and Innate Immunity (TLR Signaling Pathway Deficiencies; Mendelian Susceptibility to Mycobacterial Disease; Epidermodysplasia Verruciformis; ..etc.) 4A00.Y
362 Complement Deficiencies 4A00.1Z, 4A00.11; 4A00.10
363 Phenocopies of Inborn Errors of Immunity associated with autoantibodies or somatic (clustered) variants 4A0Z (clustered)

Rare Infections 4

482 Herpes simplex viral encephalitis 1F00.21
483 Progressive multifocal leukoencephalopathy (JC Infection) 1D80.0
484 Disseminated Non-Tuberous Mycobacterial (NTM) Disease 1B20
485 Brucellosis (Severe/complicated brucellosis including neurobrucellosis, endocarditis and disseminated disease) 1C43

Rare Inherited Metabolic Disorder 145

1 Alkaptonuria 5C50.10
2 Argininosuccinic aciduria 5C50.A0
3 Classical phenylketonuria 5C50.00
4 Non-ketotic hyperglycinemia (NKH) 5C50.70
5 Ornithine aminotransferase (OAT) deficiency 5C50.9
6 Ornithine transcarbamylase (OTC) deficiency 5C50.AY
7 Serine deficiency (3-phosphoglycerate - dehydrogenase deficiency) 5C50.6
8 Tyrosinaemia type 1 5C50.11
9 Carbamoylphosphate synthetase I (CPS1) deficiency 5C50.A1
10 Arginase Deficiency (Argininaemia) 5C50.A2
11 Citrullinaemia type 1 5C50.A3
12 N- Acetylglutamate synthetase deficiency 5C50.AY
13 Hyperornithinaemia- hyperammonaemia - homocitrullinuria 5C50.AY
14 Citrin deficiency 5C50.A3
15 Classical homocystinuria 5C50.B
16 Methylcobalamin deficiency type cbl E, G or Dv1 5C50.B
17 Isolated sulfite oxidase deficiency 5C50.B/8E47
18 Molybdenum cofactor deficiency 5C50.B/8E47
19 Adenosine kinase deficiency 5C50.B
20 Maple-syrup-urine disease 5C50.D0
21 Methylmalonic acidaemia (MUT, MMAA, MMAB def) 5C50.E0
22 Propionic acidaemia 5C50.E0
23 Isovaleric acidaemia 5C50.E0
24 Cobalamin deficiency type C, D (variant 2) or F 5C50.E0
25 Biotinidase deficiency 5C50.E0
26 Holocarboxylase synthetase deficiency 5C50.E0
27 Glutaric aciduria type 1 5C50.E1
28 Canavan disease 5C50.E1
29 Malonic aciduria (Malonyl-CoA decarboxylase deficiency) 5C50.E1 & BC43.00
30 Ethylmalonic encephalopathy 5C50.E1
31 Succinic semialdehyde dehydrogenase (SSADH) deficiency 5C50.E1
32 Trimethylaminuria 5C50.G
33 Transaldolase deficiency 5C51.0
34 Glycerol kinase deficiency 5C51.1
35 Glycogen storage disease type 1A 5C51.3
36 Glycogen storage disease type 1B 5C51.3
37 Glycogen storage disease type 2 (Pompe disease) 5C51.3 & BC43.10
38 Glycogen storage disease type 3 5C51.3
39 Glycogen storage disease type 4 5C51.3
40 Glycogen storage disease type 5 5C51.3
41 Glycogen storage disease type 6 5C51.3
42 Glycogen storage disease type 9 5C51.3
43 Danon disease (LAMP2 deficiency) 5C51.3
44 Classical galactosaemia (Galactose-1- phosphate uridyltransferase deficiency) 5C51.40
45 Hereditary fructose intolerance 5C51.50
46 Fructose-1,6-bisphosphatase deficiency 5C51.5Y
47 Carnitine transporter deficiency 5C52.00
48 Carnitine palmitoyltransferase I (CPT I) deficiency 5C52.00 & BC43.10
49 Carnitine palmitoyltransferase II (CPT II) deficiency 5C52.00 & BC43.10
50 Carnitine-acylcarnitine translocase (CACT) deficiency 5C52.00 & BC43.10
51 Medium chain acyl-CoA dehydrogenase deficiency (MCAD) 5C52.01
52 Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) 5C52.01
53 Multiple acyl-CoA dehydrogenase deficiency (MADD) 5C52.01
54 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) 5C52.01
55 Mitochondrial trifunctional protein (MTP) deficiency 5C52.01
56 3-hydroxy 3-methylglutaryl-CoA (HMG-CoA) lyase deficiency 5C52.02
57 3-hydroxy 3-methylglutaryl-CoA (HMG-CoA) synthase deficiency 5C52.02
58 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency 5C52.02
59 Sjögren-Larsson syndrome 5C52.03
60 Smith-Lemli-Opitz syndrome 5C52.10
61 Cerebrotendinous xanthomatosis 5C52.11 & 8A03.11
62 Bile acid synthesis defect with cholestasis 5C52.11
63 Sitosterolaemia 5C52.1Y
64 Pyruvate kinase deficiency 5C53.00 & 3A10.Y
65 Pyruvate dehydrogenase complex deficiency 5C53.02
66 Primary mitochondrial disorders 5C53.2Z; 5C53.2Y
67 Mitochondrial DNA depletion syndromes 5C53.20
68 Myoneurogastrointestinal encephalopathy (MNGIE) syndrome 5C53.20
69 Primary coenzyme Q10 deficiency 5C53.22; LD90.Y
70 Leigh syndrome 5C53.24; 8C73.Y; 5C53.Y
71 Neuropathy, ataxia, and retinitis pigmentosa (NARP) 8C73.1
72 Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) 8C73.Y; BC43.10; BC43.00
73 Myoclonic epilepsy ragged red fibres syndrome (MERRF) 8C73.Y
74 Leber hereditary optic atrophy (LHON) 8C73.Y
75 Chronic progressive external ophthalmoplegia (CEPO) 9C82.0
76 Kearns-Sayre syndrome 9C82.0
77 Mitochondrial myopathy 8C73.Z
78 Barth syndrome 5C50.E0; BC43.00; BC44
79 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) 5C50.Y
80 Creatine biosynthesis defect 5C53.4
81 Creatine transporter deficiency 5C53.4
82 Congenital Disorders of glycosylation (CDG) 5C54.0; 5C54.Z; 5C54.Y
83 Lesch-Nyhan syndrome 5C55.01
84 Adenylosuccinate lyase (ADSL) deficiency 5C55.0Υ
85 Aicardi-Goutières syndrome 5C55.2
86 GM1 gangliosidosis 5C56.00
87 GM2-gangliosidosis (Tay Sachs disease) 5C56.00
88 Fabry disease 5C56.01; BC43.10; BC43.2Y
89 Metachromatic leukodystrophy 5C56.02
90 Krabbe disease 8A44.4
91 Gaucher disease 5C56.OY
92 Niemann-Pick disease type A/B 5C56.0Y
93 Niemann-Pick disease type C 5C56.0Y; 8A02.12
94 Multiple Sulfatase deficiency 5C56.0Y
95 Lysosomal acid lipase deficiency (Wolman disease) 5C56.0Y
96 Neuronal ceroid lipofuscinosis 5C56.1
97 Neuronal ceroid lipofuscinosis, type 2 (CLN2 disease) 5C56.1
98 Mucolipidosis Type II (i-cell disease) 5C56.20
99 Mucolipidoses Type III 5C56.20
100 Alpha-mannosidosis 5C56.21
101 Sialidosis 5C56.21
102 Mucopolysaccharidosis type 1 (MPS I) (Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome) 5C56.30
103 Mucopolysaccharidosis type 2 (MPS II) (Hunter syndrome) 5C56.31
104 Mucopolysaccharidosis type 3 (MPS III) (Sanfilippo syndrome) 5C56.3Y
105 Mucopolysaccharidosis type 4A (MPS IVA) (Morquio A syndrome) 5C56.32
106 Mucopolysaccharidosis type 6 (MPS VI) (Maroteaux-Lamy syndrome) 5C56.33
107 Mucopolysaccharidosis type 7 (MPS VII) (Sly syndrome) 5C56.3Y
108 Pycnodysostosis 5C56.Y
109 Disorders of peroxisome biogenesis (PEX deficiency) 5C57.0
110 Peroxisomal D-bifunctional enzyme deficiency 5C57.1
111 Peroxisomal acyl-CoA oxidase deficiency 5C57.1
112 X-linked adrenoleukodystrophy (X-ALD) 5C57.1
113 Primary hyperoxaluria type 1 5C51.20
114 Crigler-Najjar syndrome 5C58.00
115 Progressive familial intrahepatic cholestasis (PFIC) 5C58.03
116 Alpha-1-antitrypsin deficiency 5C5A
117 Variegate porphyria 5C58.13
118 Porphyria cutanea tarda (PCT) 5C58.10
119 Erythropoietic porphyrias 5C58.12
120 Acute Intermittent Porphyria 5C58.1Y
121 Aromatic L-amino acid decarboxylase (AADC) deficiency 5C59.00
122 Tetrahydrobiopterin (BH4) deficiency 5C59.01
123 Cystinuria 5C60.2
124 Cystinosis 5C60.1; 5C60.Y
125 Lysinuric protein intolerance 5C60.Y
126 Transcobalamin deficiency 3A01.0; 5C63.0
127 Methylenetetrahydrofolate reductase (MTHFR) deficiency 5C63.1
128 Wilson disease 5C64.00
129 Menkes disease 5C64.0Y
130 Neurodegeneration with brain iron accumulation 5C64.10
131 Familial apolipoprotein C-II deficiency 5C80.1
132 Familial lipoprotein lipase deficiency 5C80.1
133 Abetalipoproteinemia 5C81.1; 8A03.13
134 Dopa-responsive dystonia (Segawa disease) 8A02.11
135 Tyrosine hydroxylase deficiency 8A02.11
136 Pyridoxal phosphate-dependent epilepsy (PLP-DE) (Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency) 5C63.Y
137 Pyridoxine dependent epilepsy with antiquitin mutations 8A61.0Y
138 Folinic acid-responsive seizures (a variant of pyridoxine-dependent epilepsy due to antiquitin mutations) 5C59.Y
139 Cerebral folate deficiency due to FOLR1 deficiency/folate receptor autoantibodies 5C63.1
140 Glucose transporter 1 (GLUT1) deficiency 8A61.4Y
141 Purine-nucleoside phosphorylase (PNP) deficiency 4A01.1
142 Oculocutaneous albinism EC23.20
143 Hermansky-Pudlak syndrome EC23.20
144 Rhizomelic chondrodysplasia punctata LD24.04
145 Conradi-Hünermann-Happle syndrome LD24.04

Rare Malformations, Developmental Anomalies & Genetic Syndromes 57

425 Angelman syndrome LD90.0
426 Beckwith-Wiedemann syndrome LD2C
427 Binder Syndrome (maxillonasal dysplasia) LD2H.Y
428 Bloom Syndrome 4A01.31
429 Cardio-facio-cutaneous syndrome LD27.0Y
430 CHARGE syndrome 5A61.0
431 Cockayne syndrome LD2B
432 Coffin-Siris syndrome LD27.0Y
433 Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) 5A44
434 Cornelia de Lange syndrome LD2F.1Y
435 Costello syndrome LD2F.1Y; BC43.10
436 Cri Du Chat Syndrome (5p deletion syndrome) LD44.51
437 22q11 deletion syndrome LD44.N0; LD44.NY
438 Fragile X syndrome LD55; 8A03.1Y
439 Goltz syndrome (Focal Dermal Hypoplasia) LD27.0Y
440 Hutchinson-Gilford progeria syndrome LD2B
441 Joubert syndrome LD20.00; LD20.0Y
442 Kabuki syndrome LD2F.1Y
443 Klinefelter Syndrome LD50.3Z; LD50.3Y; LD50.31; LD50.30
444 Larsen syndrome LD24.E
445 Limb-Body Wall Complex (LBWC) syndrome LD2F.1Y
446 Loeys-Dietz syndrome BD50.Z
447 Marfan syndrome LD28.01
448 Mayer-Rokitansky-Küster-Hauser syndrome (including MURCS association subtype) LB44.Y; LD2F.14
449 Miller-Dieker syndrome LD20.1
450 Mowat-Wilson syndrome LD2F.1Y
451 Neurofibromatosis Type I LD2D.10
452 Neurofibromatosis Type II LD2D.11
453 Noonan syndrome LD2F.15; LD2F.1Z; LD2F.1Y; BC43.10
454 Oro-facio-digital syndrome LD25.00
455 Pallister-Killian Syndrome LD7Y
456 Phelan-McDermid syndrome LD44.NY
457 Potocki-Lupski syndrome LD41.G1
458 Prader-Willi syndrome LD90.3
459 Specific rare chromosomal abnormality with multiple malformations, physical and learning disabilities (ring chromosome syndromes; Trisomy 13; Trisomy 18; ...etc.) LD9Z
460 Rett Syndrome LD90.4
461 Rubinstein-Taybi syndrome LD2F.1Y
462 Russell-Silver syndrome LD2F.1Y
463 Smith-Magenis syndrome LD44.H1
464 Specific chromosomal microdeletion syndrome LD41; LD44
465 Specific chromosomal microduplication syndrome (Dup15q syndrome, 22q11.2 Duplication, etc.) LD41; LD44
466 Specific monogenic neurodevelopmental disorders 6A0Z
467 Stuve-Wiedemann syndrome LD24.C
468 Schwartz-Jampel syndrome 8C71.1
469 Seckel syndrome LD2F.1
470 Sotos syndrome LD2C
471 Stickler syndrome LD2F.1Y
472 Treacher-Collins syndrome LD2F.16
473 Tuberous Sclerosis Complex LD2D.2
474 Birt Hogg Dube Syndrome LD2A.1
475 Turner syndrome LD50
476 Usher syndrome LD2H.4
477 Weaver syndrome LD2C
478 Werner syndrome LD2B
479 Wolf-Hirschhorn Syndrome LD44.41
480 TAR (Thrombocytopenia-Absent Radius) Syndrome LD2F.1Y
481 Williams syndrome LD44.70

Rare Neurological & Neuromuscular Diseases 92

146 Rare specified genetic epileptic syndromes with neonatal onset (eg SCN2A, KCNQ2, SCN8A, etc.) 8A61.OY
147 Early Infantile Epileptic Encephalopathy (EIEE) 8A62.Y
148 Epilepsy of infancy with migrating focal seizures (EIMFS) 8A61.12
149 Dravet Syndrome 8A61.11
150 Epilepsy with eyelid myoclonia (Jeavons syndrome) 8A61.2Y
151 Epilepsy with Myoclonic-Atonic Seizures (Doose Syndrome) 8A61.22
152 Epilepsy with Continuous Spike-Wave during Sleep 8A62.Y
153 Landau-Kleffner Syndrome 8A62.2
154 Infantile spasm (West syndrome) 8A62.0
155 Lennox-Gastaut syndrome 8A62.1
156 Developmental Epileptic Encephalopathy (ARV1-DEE; KCNQ2-DEE; KCNT1-DEE; SCN2A-DEE; SCN8A-DEE; CDKL5 deficiency; STXBP1-DEE, etc.) 8A62.Y
157 GRIN2A-related disorders 8A61.2Y
158 Familial focal epilepsy with variable foci (DEPDC5-related focal epilepsy; NPRL2-related focal epilepsy; NPRL3-related focal epilepsy) 8A61.4Y
159 Progressive Myoclonic Epilepsy 8A61.41
160 Lafora disease 8A61.41
161 Biotin-responsive basal ganglia disease 5C63.Y
162 NAXE encephalopathy 8E47
163 Subacute sclerosing panencephalitis 8A45.01
164 Bickerstaff brainstem encephalitis 8C01.0
165 NMDA (N-methyl-D-aspartate) receptor encephalitis 8E4A.0
166 Rasmussen Encephalitis 8A62.Y
167 Anti-GABA-B receptor encephalitis 8E4A.0
168 Anti-GFAP Encephalitis (Autoimmune GFAP Astrocytopathy) 8E4A.0
169 Acute Necrotising Encephalopathy of Childhood (ANEC) 8E47
170 Acute Encephalopathy Biphasic Seizures and Late Reduced Diffusion (AESD) 8E47
171 Febrile Infection-Related Epilepsy Syndrome (FIRES) 8A63.Y
172 Chronic Lymphocystic Inflammation with pontine perivascular enchancement (CLIPPERS) 8E4A.0
173 Opsoclonus Myoclonus--Ataxia Syndrome (OMAS) 9C85.02
174 Becker muscular dystrophy 8C70.0
175 Duchenne muscular dystrophy 8C70.1
176 Emery Dreifuss Muscular Dystrophy 8C70.2
177 Facioscapulohumeral muscular dystrophy 8C70.3
178 Limb-girdle muscular dystrophy (LGMD R1 Calpain3-related, LGMD R2 Dysferlin-related, DNAJB6-related limb-girdle muscular dystrophy D1, ....etc.) 8C70.4Z, 8C70.4Y, 8C40.40, 8C40.41
179 Congenital Mucular Dystrophy (Ullrich and Bethlem) 8C70.6
180 Nemaline myopathy 8C72.00
181 Centronuclear myopathy (Autosomal dominant centronuclear myopathy, Autosomal recessive centronuclear myopathy) 8C72.01, 8C72.1, 8C72.2
182 Central core disease 8C72.02
183 X-linked Myotubular myopathy 8C72.01
184 Myotonic dystrophy (Type I and Type II) 8C71.0
185 Myotonia Congenita (Becker disease, Thomsen disease) 8C71.2
186 Myasthenia gravis (Ocular and generalised) 8C60.Z
187 Eaton-Lambert syndrome 8C62
188 Congenital myasthenic syndromes (CHAT, DOKS7, RAPSN, COLQ) 8C61
189 Motor Neuron Disease 8B60.Z, 8B60.Y
190 Amyotropic lateral sclerosis 8B60.0
191 Spinal Muscular Atrophy 8B61.Z; 8B61.0, 8B61.1, 8B61.3
192 Hyperkalaemic periodic paralysis 8C74.11
193 Chronic inflammatory demyelinating polyneuropathy (CIPD) 8C01.3
194 Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease 1, 2) 8C20.Z; 8C20.Y; 8C20.1; 8C20.0
195 Congenital insensitivity to pain with anhidrosis (CIPA) 8C21.2
196 Giant Axonal Neuropathy (GAN) 8C2Y
197 Hereditary Spastic Paraplegia 8B44.0Z; 8844.ΟΥ; 8B44.01; 8B44.00; 8B44.02
198 Alternating Hemiplegia of Childhood MB53.0
199 Rapid-Onset Dystonia-Parkinsonism (RDP) (DYT12) 8A02.12
200 CAPOS Syndrome (Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss) LD20.0Y
201 Early-onset generalized dystonia caused by genetic mutation (TOR1A, KMT2B, THAP1, ANO3, etc.) 8A02.0Y
202 Primary paroxysmal dystonia (Paroxysmal Kinesigenic Dyskinesia, Paroxysmal Non-Kinesigenic Dyskinesia, Paroxysmal Exertion-Induced Dyskinesia) 8A02.2
203 GNAO1-related disorders 8A60.0; 8A03.Y
204 Spinocerebellar ataxias (SCA1, SCA2, SCA3, ....etc.) 8A03.16
205 Friedreich ataxia 8A03.10
206 Ataxia telangieectasia 4A01.31
207 Huntington disease 8A01.10
208 Infantile Neuroaxonal Dystrophy 5C64.10
209 MCT8 deficiency (Allan-Herndon-Dudley Syndrome) 5A00.0Y
210 Hereditary hyperekplexia LD90.Y; 8A07.2
211 Hemiplegic migraine ( CACNA 1, ATP1A2, SCN1A) 8A80.10
212 Vanishing white matter disease (Childhood Ataxia with Diffuse CNS Hypomyelination) 8A44.3
213 Alexander disease 8A44.2
214 Pelizaeus-Merzbacher disease 8A44.0
215 Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) 8A44.3
216 Multiple sclerosis 8A40.Z; 8A40.0; 8A40.1
217 Transverse myelitis 8A42.7; 8A42.Y
218 Acute disseminated encephalomyelitis (ADEM) 8A42.Z
219 Neuromyelitis optica Spectrum Disorder (NMOSD) 8E4A.0
220 Acute inflammatory demyelinating polyneuropathy (Guillain-Barré Syndrome) 8C01.0
221 Lissencephaly spectrum disorder LD20.1
222 Pontocerebellar Hypoplasia (Type 1, Type 2, ...etc.) LD20.01
223 Focal cortical dysplasia LA05.51; 8A60.9/LAO 6.2
224 Hemimegalencephaly LA05.1
225 Dandy-Walker Malformation LA06.0
226 Moya Moya syndrome (and disease) 8B22.B
227 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome. 8B22.C0; 8A45.20
228 Congenital central hypoventilation syndrome 7A42.1
229 Rapid onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation(ROHHAD) 7A42.0
230 Prionopathy 8E0Z; 8E02.0
231 Fahr disease LD20.4
232 Primary vasculitis of central nervous system 4A44.7
233 Holoprosencephaly LA05.2; LD20.3
234 Schizencephaly LA05.61
235 Polymicrogyria LA05.50
236 Malignant hyperthermia NE86
237 Leukodystrophies 8A44.Z; 8A44.3

Rare Renal Diseases 30

379 Autosomal recessive polycystic kidney disease GB8Y
380 Autosomal dominant polycystic kidney disease GB81
381 Alport Syndrome LD2H.Y; GB4Z
382 Anti-glomerular basement membrance disease (Goodpasture) MF85
383 Hemolytic Uremic Syndrome (STEC-HUS) 3A21.2
384 Inherited Distal Renal Tubular Acidosis (dRTA/Type 1) (AD-dRTA & AR-dRTA) GB90.44
385 Inherited Proximal Renal Tubular Acidosis (pRTA/Type 2) GB90.44
386 Bartter syndrome GB90.43
387 BK-Virus Nephropathy GB55.Y
388 Congenital nephrotic syndrome GB41
389 Dense deposit disease (DDD) MF8Y; GB40
390 Denys-Drash Syndrome LD2A.Y
391 Exstrophy of bladder LB31.3
392 Hepatocyte Nuclear Factor-1 Beta (HNF1B) associated disease 5A13.6
393 Renal fanconi syndrome (inherited/acquired) GB90.42
394 Dent Disease (Type 1 and Type 2) GB90.42
395 Hereditary (monogenic) hypomagnesemia caused by genetic defects of CLDN16, CLDN19, TRPM6, CASR, CNNM2, EGF, EGFR, etc. 5C64.41
396 Focal segmental glomerulosclerosis MF8Y
397 Gitelman syndrome caused by SLC12A3 gene defects 5C64.41
398 IgA nephropathy MF8Y
399 Liddle syndrome due to epithelial sodium channel (ENaC) defects (Pseudohyperaldosteronism) BA04.Y
400 Lowe syndrome 5C60.0
401 Minimal change disease GB60.0
402 Membranous nephropathy (Primary/secondary) GB4Z
403 Membranoproliferative glomerulonephritis (Primary/secondary) MF8Y
404 Severe form of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) (Bilateral multicystic dysplastic kidneys, Bilateral Renal Agenesis, Bilateral Renal Dysplasia/Hypoplasia, Prune Belly Syndrome (Eagle-Barrett Syndrome), Cloacal Exstrophy) LB30.9; LB30.00; LB30.0Y; LD2F.10; LB17.3
405 Nephrogenic syndrome of inappropriate antidiuresis caused by AVPR2 gene defects 5A60.20
406 Nephronophthisis GB83
407 Renal coloboma syndrome due to PAX2 gene defects LA13.7Y
408 WAGR (Wilm' tumour, Anirida, genitourinary anomalies and mental retardation) syndrome LD2A.Y

Rare Rheumatological Diseases 25

308 Adult-onset Stills disease FA23
309 Autoimmune necrotising myositis (Immune-mediated necrotizing myopathy) 4A41
310 Behçet disease 4A62
311 Monogenic autoinflammatory disorders (Mevalonate Kinase Deficiency; Blau syndrome; Deficiency of adenosine deaminase 2 (DADA2); LPIN2-related disorder (Majeed syndrome); ...etc.) 4A60.Y; 4A00.Y; 4A60.Y
312 Catastrophic antiphospholipid syndrome (life-threatening form of antiphospholipid syndrome) 4A45.Z
313 Chronic nonbacterial osteomyelitis (Chronic recurrent multifocal osteomyelitis) FB84.3; 4A6Y
314 Dermatomyositis 4A41.00; 4A41.01
315 (Diffuse) Systemic sclerosis 4A42.1; 4A42.Z
316 Primary small vessels vasculitis: - ANCA-Associated Vasculitis (Eosinophilic granulomatosis with polyangiitis, Granulomatosis with polyangiitis, Microscopic polyangiitis) 4A44.AZ; 4A44.A2; 4A44.A1; 4A44.A0
317 Primary large vessel vasculitis: - Giant cell arteritis 4A44.2
318 Henoch Schonlein Purpura 4A44.92
319 Cryoglobulinemic vasculitis 4A44.90
320 IgG4 related disease 4A43.0
321 Inflammatory Inclusion body myositis 4A41.20
322 Juvenile Idiopathic Arthritis FA24.Z; FA24.Y; FA24.0Z; FA24.1
323 Kawasaki disease 4A44.5
324 Mixed connective tissue disease 4A43.3
325 Polymyositis 4A41.1Z; 4A41.1Y; 4A41.10
326 Primary Sjogren syndrome 4A43.20; 4A43.22
327 Psoriatic arthritis FA21.Z; FA21.Y; FA24.2; FA21.0
328 Pyogenic arthritis-pyoderma gangrenosum-acne syndrome (caused by PSTPIP1 gene mutations) 4A60.Y
329 Pustulo-psoriatic hyperostotic spondylarthritis (SAPHO) syndrome 4A61
330 Sarcoidosis 4B20.Z; 4B20.Y
331 Primary medium vessel vasculitis:- Polyarteritis nodosa 4A44.4
332 Primary large vessel vasculitis: - Takayasu arteritis 4A44.1

Rare Skin Diseases 29

238 Acrodermatitis enteropathica 5C64.20
239 Bullous pemphigoid EB41.0
240 Cicatricial pemphigoid EB41.1
241 Complex/combined vascular malformation involving the skin LC52
242 PIK3CA-related overgrowth spectrum (PROS) (Megalencephaly-capillary malformation (MCAP) syndrome, CLOVES, Klippel-Trenaunay syndrome, etc.) LD2C; LD26.60
243 Congenital generalized lipodystrophy (Berardinelli-Seip congenital lipodystrophy) LD27.60
244 Darier’s disease (Keratosis follicularis) EC20.2
245 Dermatitis herpetiformis EB44
246 Dyskeratosis congenita and related telomere biology disorders 3A70.0
247 Ectodermal dysplasias LD27.0Z, LD27.0Y, LD27.02, LD27.03
248 Inherited epidermolysis bullosa (EB) ( EB simplex, Junctional EB, Dystrophic EB, Kindler EB) EC3Z; EC33; EC30; EC33, EC31; EC32
249 Epidermolysis bullosa acquisita EB43
250 Generalized pustular psoriasis EA90.40
251 Gorlin-Goltz syndrome (Nevoid Basal Cell Carcinoma Syndrome) LD2D.4
252 SLC29A3-related disorder (H syndrome, Pigmented Hypertrichosis with Insulin-Dependent Diabetes (PHID) syndrome) LD27.Y
253 Incontinentia pigmenti LD27.00
254 Hailey-hailey disease (Familial benign chronic pemphigus) EC20.2
255 Palmoplantar Epidermal Differentiation Disorders (Palmoplantar keratodermas) (KRT9-PEDD, KRT16-PEDD-PC (pachyonychia congenita),..etc.) ED55.Z
256 Non-syndromic Epidermal Differentiation Disorders (ichthyosis) (Lamellar ichthyosis (TGM1-nEDD); Harlequin ichthyosis (ABCA12-nEDD), Epidermolytic ichthyosis (El) (KRT1-nEDD), ...etc.) EC20.0; EC20.02
257 Syndromic Epidermal Differentiation Disorders (Syndromic ichthyosis) (X-linked Ichthyosis (STS-sEDD), Netherton syndrome (SPINK5-sEDD), Keratitis-ichthyosis-deafnee syndrome (GJB2-sEDD-KID), Congenital hemidysplasia with icthyosiform erytroderma and limb defects (CHILD syndrome), Trichothiodystrophy, Chanarin-Dorfman syndrome, ...etc.) LD27.2
258 Linear IgA bullous dermatosis EB42
259 Paraneoplastic pemphigus EB40.2
260 Pemphigus foliaceous EB40.1
261 Pemphigus vulgaris EB40.OZ; ΕΒ40.ΟΥ
262 Porokeratosis ED52
263 PTEN hamartoma tumour syndrome LD2D.Y
264 Pyoderma gangrenosum EB21
265 Xeroderma pigmentosum LD27.1
266 Cutaneous mastocytosis 2A21.1Z; 2A21.1Y