Persistent hyperplastic primary vitreous, autosomal recessive

Preferred Label : Persistent hyperplastic primary vitreous, autosomal recessive;

Symbol : PHPVAR;

CISMeF acronym : PHPVAR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Retinal nonattachment and falciform detachment; Persistent fetal vasculature; RNANC; Retinal nonattachment, nonsyndromic congenital; NCRNA;

Description : Retinal nonattachment is a more appropriate description than detachment. Its occurrence with falciform folds (falciform detachment; see 180070) in the same family indicates that the 2 phenotypes are basically the same (Warburg, 1976). Congenital retinal nonattachment is a feature of the osteoporosis-pseudoglioma syndrome (259770).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the drosophila atonal 7 gene (ATOH7, 609875.0001);

Prefixed ID : #221900;

Details

Origin ID

221900;

UMLS CUI

C1969783;

Automatic exact mappings (from CISMeF team)
- Congenital blindness due to retinal non-attachment [ORDO Disease]
- Congenital retinal detachment [HPO term]
- Persistent hyperplastic primary vitreous [ORDO Disease]
- RNA, long noncoding [MeSH Descriptor]
- Remnants of the hyaloid vascular system [HPO term]
- Untranslated RNA [NCIt concept]
- persistent hyperplastic primary vitreous, autosomal recessive [MeSH Supplementary Concept]
- persistent hyperplastic primary vitreous, autosomal recessive [MeSH concept]
- retinal nonattachment and falciform detachment [MeSH concept]
- retinal nonattachment and falciform detachment [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- retinal nonattachment, nonsyndromic congenital [MeSH concept]
- retinal nonattachment, nonsyndromic congenital [MeSH Supplementary Concept]
DO Cross reference
- persistent hyperplastic primary vitreous [DO Concept]
Genes related to phenotype
- Atonal bhlh transcription factor 7 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Buphthalmos [HPO term]
- Cataract [HPO term]
- Congenital onset [HPO term]
- Congenital retinal detachment [HPO term]
- Corneal opacity [HPO term]
- Esotropia [HPO term]
- Glaucoma [HPO term]
- Hyphema [HPO term]
- Iris coloboma [HPO term]
- Leukocoria [HPO term]
- Microcornea [HPO term]
- Microphthalmia [HPO term]
- Pendular nystagmus [HPO term]
- Persistent pupillary membrane [HPO term]
- Phthisis bulbi [HPO term]
- Posterior synechiae of the anterior chamber [HPO term]
- Remnants of the hyaloid vascular system [HPO term]
- Retinal fold [HPO term]
- Retinal nonattachment [HPO term]
- Shallow anterior chamber [HPO term]
- Ultra-low vision with no light perception [HPO term]
- Uveitis [HPO term]
ORDO concept(s)
- Congenital blindness due to retinal non-attachment [ORDO Disease]
- Persistent hyperplastic primary vitreous [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- persistent hyperplastic primary vitreous, autosomal recessive [MeSH concept]
- persistent hyperplastic primary vitreous, autosomal recessive [MeSH Supplementary Concept]

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