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Familial retinal arterial macroaneurysm

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

PROTEIN INTERACTIONS: 1

Hemihypertrophy

1 OMIM reference -
3 associated genes
14 signs/symptoms

Familial retinal arterial macroaneurysm

Hemihypertrophy

IGFBP7	(UniProt - OMIM)		H19	(OMIM)
			IGF2	(UniProt - OMIM)
			KCNQ1OT1	(OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGFBP7	(0.75)	IGF2

Citations in the biomedical literature:

Familial retinal arterial macroaneurysm		Hemihypertrophy
	Synonym(s): - FRAM - Retinal arterial macroaneurysm and supravalvular pulmonic stenosis		Synonym(s): - Hemi 3 syndrome - Hemicorporal hypertrophy - Isolated hemihyperplasia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare surgical cardiac disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare oncologic 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: (no data available)

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

Hemihypertrophy
	Very frequent - Asymmetric rib cage / thorax - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Scoliosis Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Areflexia / hyporeflexia - Bladder and ureter anomalies - Congenital cardiac anomaly / malformation / cardiopathy - Inguinal / inguinoscrotal / crural hernia - Insensitivity to pain - Myelomeningocele - Nephroblastoma / Wilms tumor - Undescended / ectopic testes / cryptorchidia / unfixed testes
Familial retinal arterial macroaneurysm
(no data available)