ORPHA:394
Homocystinuria due to cystathionine beta-synthase deficiency
Synonyms: CBS-deficient HCU · Classical homocystinuria · Cystathionine beta-synthase deficiency · Cystathionine beta-synthase-deficient homocystinuria · Homocystinuria due to CBS deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Homocystinuria due to cystathionine beta-synthase deficiency | CBS-deficient HCU · Classical homocystinuria · Cystathionine beta-synthase deficiency · Cystathionine beta-synthase-deficient homocystinuria · Homocystinuria due to CBS deficiency |
| fr | Homocystinurie par déficit en cystathionine bêta-synthase | Déficit en cystathionine bêta-synthase · HCU déficiente en CBS · Homocystinurie classique · Homocystinurie déficiente en cystathionine bêta-synthase · Homocystinurie par déficit en CBS |
| de | Homocystinurie durch Cystathionin-beta-Synthase-Mangel | CBS-defiziente HCU · Cystathionin-beta-Synthase-Mangel · Homocystinurie durch CBS-Defizienz · Klassische Homocystinurie |
| es | Homocistinuria por deficiencia de cistationina beta-sintasa | Deficiencia de cistationina beta-sintasa · Homocistinuria clásica · Homocistinuria por deficiencia de CBS |
| it | Omocistinuria da deficit di cistationina beta-sintasi | Deficit di cistationina beta-sintasi · HCU da deficit di CBS · Omocistinuria da deficit di CBS · Omocistinuria da deficit di cistationina beta-sintasi · Omocistinuria classica |
| nl | Homocystinurie door deficiëntie van cystathionine-bèta-synthase | CBS-deficiënte HCU · Cystathionine-bèta-synthase-deficiënte homocystinurie · Deficiëntie van cystathionine-bèta-synthase · Homocystinurie door CBS-deficiëntie · Klassieke homocystinurie |
| pt | Homocistinúria devida a deficiência de cistationina beta-sintetase | Deficiência de cistationina beta-sintetase · HCU CBS-deficiência relacionada · Homocistinúria devida a deficiência de cistationina beta-sintetase |
| pl | Homocystynuria spowodowana niedoborem beta-syntazy cystationiny | Homocystynuria klasyczna · Niedobór beta-syntazy cystationu |
| cs | Klasická homocystinurie | Deficit cystathionin beta-syntázy · Homocystinurie způsobená deficitem cystathionin beta-syntázy |
| uk | Гомоцистинурія внаслідок дефіциту цистатіонін-бета-синтази | Гомоцистінурія з дефіцитом CBS · Дефіцит цистатіонін-бета-синтази · Гомоцистинурія з дефіцитом цистатіонін-бета-синтази · Гомоцистинурія внаслідок дефіциту CBS |
| zh | 经典型高胱氨酸尿症 | 胱硫醚β-合酶缺乏所致半胱氨酸尿症 |
| tr | Klasik homosistinüri | Sistatiyonin beta-sentaz eksikliği · Sistatiyonin beta sentaz eksikliğine bağlı homosistinüri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236200 | E | validated | |
| ICD-10 | E72.1 | NTBT | inclusion | validated |
| ICD-11 | 5C50.B | NTBT | index | validated |
| MONDO | 0009352 | E | validated | |
| UMLS | C0751202 | E | validated | |
| GARD | 6667 | E | validated | |
| MedDRA | 10071093 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:225689Amino acid or protein metabolism disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79173Disorder of methionine cycle and sulfur amino acid metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CBS | Disease-causing germline mutation(s) in | Assessed | HGNC:1550 | ENSG00000160200 | 613381 | 21q22.3 | cystathionine beta-synthase | 20301697[PMID] |
5
Prevalence and incidence
9 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | Not yet validated | 10328723[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.65 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2001[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Ireland | Value and class | Validated | 9587032[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.77 / 100 000 | Germany | Value and class | Validated | 9587032[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 15.6 / 100 000 | Norway | Value and class | Validated | 15192637[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Denmark | Value and class | Validated | 10328723[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.7 / 100 000 | Australia | Value and class | Validated | 646432[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 55.5 / 100 000 | Qatar | Value and class | Validated | 19914636[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.11 / 100 000 | Japan | Value and class | Validated | 9587032[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
62 annotations · validated 2024-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004337 | Abnormality of amino acid metabolism | |
| HP:0001166 | Arachnodactyly | |
| HP:0000678 | Dental crowding | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0001083 | Ectopia lentis | |
| HP:0002160 | Hyperhomocystinemia | |
| HP:0001249 | Intellectual disability | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| Frequent (79-30%) | ||
| HP:0000646 | Amblyopia | |
| HP:0004420 | Arterial thrombosis | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0002637 | Cerebral ischemia | |
| HP:0002857 | Genu valgum | |
| HP:0000822 | Hypertension | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0001132 | Lens subluxation | |
| HP:0000545 | Myopia | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0001761 | Pes cavus | |
| HP:0002204 | Pulmonary embolism | |
| HP:0002650 | Scoliosis | |
| HP:0002209 | Sparse scalp hair | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0002039 | Anorexia | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000518 | Cataract | |
| HP:0033724 | Cerebral venous sinus thrombosis | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0002353 | EEG abnormality | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002040 | Esophageal varix | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000501 | Glaucoma | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0002240 | Hepatomegaly | |
| HP:0100790 | Hernia | |
| HP:0000218 | High palate | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0033505 | Livedo reticularis | |
| HP:0025300 | Malar rash | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0000648 | Optic atrophy | |
| HP:0001733 | Pancreatitis | |
| HP:0001300 | Parkinsonism | |
| HP:0000709 | Psychosis | |
| HP:0000541 | Retinal detachment | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| HP:0000486 | Strabismus | |
| HP:0001933 | Subcutaneous hemorrhage | |
| HP:0001025 | Urticaria | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 27778219[PMID]_20301697[PMID]_36123115[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/394
- This record as JSON: /data/d/394.json