Details of Disease

General Information of Disease (ID: DISUK45U)

Disease Name Persistent hyperplastic primary vitreous, autosomal recessive
Synonyms
retinal nonattachment, nonsyndromic congenital; persistent foetal vasculature; PHPVAR; persistent fetal vasculature; retinal nonattachment and falciform detachment; autosomal recessive persistent hyperplastic primary vitreous; persistent hyperplastic primary vitreous, autosomal recessive
Definition Autosomal recessive form of persistent hyperplastic primary vitreous.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISABPH6: Persistent hyperplastic primary vitreous
DISUK45U: Persistent hyperplastic primary vitreous, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0009097
MESH ID
C566966
UMLS CUI
C1969783
OMIM ID
221900
MedGen ID
370100

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATOH7 OTUBW5PV Strong Autosomal recessive [1]
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References

1 Math5 is required for retinal ganglion cell and optic nerve formation. Development. 2001 Jul;128(13):2497-508. doi: 10.1242/dev.128.13.2497.