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Acrodysostosis with multiple hormone resistance

2 OMIM references -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Classical homocystinuria

1 OMIM reference -
1 associated gene
43 signs/symptoms

Acrodysostosis with multiple hormone resistance

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 with multiple hormone resistance		Classical homocystinuria
	Synonym(s): (no synonyms)		Synonym(s): - Cystathionine beta-synthase deficiency - Homocystinuria due to cystathionine beta-synthase deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - 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: <1 / 1 000 000 Average age onset: childhood 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 - No MeSH references		External references: 1 OMIM reference - No MeSH references

Classical homocystinuria
	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
Acrodysostosis with multiple hormone resistance
(no data available)