ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
3 signs/symptoms

Familial retinal arterial macroaneurysm

Ichthyosis-hypotrichosis syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGFBP7	(0.68)	ST14

Citations in the biomedical literature:

Familial retinal arterial macroaneurysm		Ichthyosis-hypotrichosis syndrome
	Synonym(s): - FRAM - Retinal arterial macroaneurysm and supravalvular pulmonic stenosis		Synonym(s): - Hypotrichosis - congenital ichthyosis

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

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

Ichthyosis-hypotrichosis syndrome
	Very frequent - Autosomal recessive inheritance - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Ichthyosis / ichthyosiform dermatitis
Familial retinal arterial macroaneurysm
(no data available)