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Generalized arterial calcification of infancy

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

COMMON GENES: 1

Pseudoxanthoma elasticum

2 OMIM references -
1 associated gene
47 signs/symptoms

Generalized arterial calcification of infancy

Pseudoxanthoma elasticum

ABCC6	(UniProt - OMIM)		ABCC6	(UniProt - OMIM)
ENPP1	(UniProt - OMIM)


COMMON GENES	ABCC6

Citations in the biomedical literature:

Generalized arterial calcification of infancy		Pseudoxanthoma elasticum
	Synonym(s): - Idiopathic infantile arterial calcification - Idiopathic obliterative arteriopathy - Infantile arteriosclerosis - Occlusive infantile arteriopathy		Synonym(s): - Gronblad-Strandberg-Touraine syndrome - PXE

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease		Classification (Orphanet): - Rare cardiac disease - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare renal disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: C537440		External references: 2 OMIM references - 1 MeSH reference: D011561

Pseudoxanthoma elasticum
	Very frequent - Anomalies of skin, subcutaneous tissue and mucosae - Arterial stenosis / occlusion - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebral vascular anomalies - Congenital cardiac anomaly / malformation / cardiopathy - Cutaneous rash - Excess nuchal skin without pterygium colli - Follicular / erythematous / edematous papules / milium - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Mild visual loss / impaired visual acuity - Retinal / chorioretinal dysplasia / dystrophy - Retinopathy - Rippled skin - Tight skin / lack of elasticity Frequent - Ecchymoses - Myopia - Striae Occasional - Acne / acnea - Angor pectoris / myocardial infarction - Anomalies of chest / thorax / trunk - Arterial aneurism (excluding aorta) - Arterial atheroma / precocious atherosclerosis / arteriosclerosis - Arterial pulse abolition - Blue sclerae - Cardiomyopathy / hypertrophic / dilated - Chronic arterial hypertension - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Endocardium anomalies / fibroelastosis / endocarditis - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hemiplegia / diplegia / hemiparesia / limb palsy - High vaulted / narrow palate - Hyperelastic skin / cutaneous hyperlaxity - Hyperextensible joints / articular hyperlaxity - Hypothyroidy - Intracranial / cerebral calcifications - Intracranial / cerebral / meningeal hemorrhage - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Periarticular tissue anomaly / extraarticular calcifications - Platelet disorders / thrombopathies - Pruritus / itching - Renal / kidney calcifications / nephrocalcinosis - Scoliosis - Subcutaneous nodules / lipomas / tumefaction / swelling - Telangiectasiae of the skin - Visual loss / blindness / amblyopia - Xanthomas / lipomas
Generalized arterial calcification of infancy
(no data available)