Cytoscape Web
Click node...

Helicoid peripapillary chorioretinal degeneration
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
5q14.3 microdeletion syndrome
Uveal coloboma - cleft lip and palate - intellectual deficit
Hereditary pheochromocytoma-paraganglioma
Classic multiminicore myopathy
Ebstein malformation
Familial isolated dilated cardiomyopathy
Hyaline body myopathy
Laing distal myopathy
Left ventricular noncompaction
Spinocerebellar ataxia type 17
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Isolated anophthalmia - microphthalmia
Leprechaunism
Rabson-Mendenhall syndrome
Septo-optic dysplasia
Synonym(s):
- Atrophia areata
- SCRA
- Sveinsson chorioretinal atrophy
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TEAD1 P28347189967
No signs/symptoms info available.