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2 OMIM references -
2 associated genes
36 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Classical homocystinuria

1 OMIM reference -
1 associated gene
43 signs/symptoms

Acrodysostosis

Classical homocystinuria

PDE4D	(UniProt - OMIM)		CBS	(UniProt - OMIM)
PRKAR1A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKAR1A	(0.63)	CBS

Citations in the biomedical literature:

Acrodysostosis		Classical homocystinuria
	Synonym(s): - Acrodysplasia - Arkless-Graham syndrome - Maroteaux-Malamut syndrome		Synonym(s): - Cystathionine beta-synthase deficiency - Homocystinuria due to cystathionine beta-synthase deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C538179		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Acrodysostosis		Classical homocystinuria
	Very frequent - Abnormal vertebral size / shape - Advanced bone age - Broad nose / nasal bridge - Cone epiphyses / epiphysis - Depressed nasal bridge - Flattened nose - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Mouth held open - Nails anomalies - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose Frequent - Anteverted nares / nostrils - Brachycephaly / flat occiput - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Delayed dentition / eruption of teeth / lack of eruption of teeth - Hearing loss / hypoacusia / deafness - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Mesomelic micromelia - Peripheral neuropathy - Prognathism / prognathia - Rachidian / spine canal stenosis - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Autosomal dominant inheritance - Dental malocclusion - Epicanthic folds - Late puberty / hypogonadism / hypogenitalism - Pigmented naevi / naevus pigmentosus / lentigo		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 - 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