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Classical homocystinuria
1 OMIM reference -
1 associated gene
8 connected diseases
43 signs/symptoms
Disease Type of connection
Huntington disease
Juvenile Huntington disease
Acrodysostosis
Acrodysostosis with multiple hormone resistance
Autosomal dominant Charcot-Marie-Tooth disease type 2P
Carney complex
Familial atrial myxoma
Primary pigmented nodular adrenocortical disease
Synonym(s):
- Cystathionine beta-synthase deficiency
- Homocystinuria due to cystathionine beta-synthase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CBS P35520613381
Very frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Autosomal recessive inheritance
- Lens dislocation / luxation / subluxation / ectopia lentis
- Long hand / arachnodactyly
- Long limbs / dolichostenomelia
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Frequent
- Arterial embolism / thrombosis
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Chronic arterial hypertension
- Genu valgum
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Marfanoid morphotype
- Myopia
- Pectus carinatum
- Pectus excavatum
- Pulmonary thromboembolism
- Restricted joint mobility / joint stiffness / ankylosis
- Scoliosis
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis
- Visual loss / blindness / amblyopia

Occasional
- Abnormal hepatic enzymes / transaminases
- Anorexia
- Cataract / lens opacification
- Esophageal varices
- Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hepatomegaly / liver enlargement (excluding storage disease)
- Herniae
- High vaulted / narrow palate
- Intracranial / cerebral / meningeal hemorrhage
- Mucosal / cutaneous hemorrhage
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Psychic / behavioural troubles
- Psychosis / schizophrenia / maniac disorder
- Retinal detachment
- Retinitis pigmentosa / retinal pigmentary changes
- Seizures / epilepsy / absences / spasms / status epilepticus
- Urticaria