Fundus albipunctatus

Preferred Label : Fundus albipunctatus;

Type : Phenotype, molecular basis known;

Included titles and symbols : Retinitis punctata albescens;

Description : This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the retinaldehyde-binding protein-1, cellular gene (RLBP1, 180090.0001); Caused by mutation in the retinol dehydrogenase-5 gene (RDH5, 601617.0001); Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0005);

Prefixed ID : #136880;

Détails

Origin ID

136880;

UMLS CUI

C0311338;

Automatic exact mappings (from CISMeF team)
- Retinitis punctata albescens [ICD-11 More detail]
Currated CISMeF NLP mapping
- Fundus albipunctatus [HPO term]
- Fundus albipunctatus [PASCAL descriptor]
- Fundus albipunctatus [ORDO Disease]
- Fundus albipunctatus [ICD-11 More detail]
- Fundus albipunctatus (disorder) [SNOMED CT concept]
- Pigmentary retinal dystrophy (disorder) [Inactive SNOMED CT concept]
- Retinitis punctata albescens [ORDO Disease]
- Retinitis punctata albescens (disorder) [SNOMED CT concept]
- fundus albipunctatus [DO Concept]
- fundus albipunctatus [MeSH concept]
- fundus albipunctatus [MeSH Supplementary Concept]
- pigmentary retinal dystrophy [SNOMED Notion]
- retinitis punctata albescens [MeSH concept]
DO Cross reference
- fundus albipunctatus [DO Concept]
Genes related to phenotype
- Peripherin 2 [OMIM gene]
- Retinaldehyde-binding protein 1 [OMIM gene]
- Retinol dehydrogenase 5 [OMIM gene]
- Rhodopsin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Fundus albipunctatus [HPO term]
- Nyctalopia [HPO term]
- Retinal flecks [HPO term]
ORDO concept(s)
- Fundus albipunctatus [ORDO Disease]
- Retinitis punctata albescens [ORDO Disease]
See also inter- (CISMeF)
- pigmentary retinal dystrophy [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Fundus albipunctatus [ORDO Disease]
- Fundus albipunctatus [HPO term]
- Fundus albipunctatus (disorder) [SNOMED CT concept]
- fundus albipunctatus [MeSH Supplementary Concept]
- fundus albipunctatus [MeSH concept]
- fundus albipunctatus [DO Concept]
- pigmentary retinal dystrophy [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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