KEGG DISEASE: Persistent hyperplastic primary vitreous

DISEASE: Persistent hyperplastic primary vitreous

Entry

H02112                      Disease

Name

Persistent hyperplastic primary vitreous;
Persistent fetal vasculature

Description

Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. PHPV typically presents unilaterally without association with systemic findings, but sometimes PHPV may be associated with rare systemic syndromes. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA13  Structural developmental anomalies of the posterior segment of eye
     H02112  Persistent hyperplastic primary vitreous

Gene

ATOH7 [HSA:220202] [KO:K09083]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20092598

Authors

Shastry BS

Title

Persistent hyperplastic primary vitreous: congenital malformation of the eye.

Journal

Clin Exp Ophthalmol 37:884-90 (2009)
DOI:10.1111/j.1442-9071.2009.02150.x

Reference

PMID:23929081

Authors

Tartarella MB, Takahagi RU, Braga AP, Fortes Filho JB

Title

Persistent fetal vasculature: ocular features, management of cataract and outcomes.

Journal

Arq Bras Oftalmol 76:185-8 (2013)
DOI:10.1590/S0004-27492013000300011

Reference

PMID:22068589

Authors

Khan K, Logan CV, McKibbin M, Sheridan E, Elcioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M

Title

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.

Journal

Hum Mol Genet 21:776-83 (2012)
DOI:10.1093/hmg/ddr509

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (3)   
   PubMed (3)   
All databases (6)   

Download RDF

DBGET integrated database retrieval system