Retinitis pigmentosa 59

Preferred Label : Retinitis pigmentosa 59;

Symbol : RP59;

CISMeF acronym : CDG1BB; RP59;

Type : Phenotype, molecular basis known;

Included titles and symbols : Congenital disorder of glycosylation, type ibb; CDG1BB;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dehydrodolichyl diphosphate synthase gene (DHDDS, 608172.0001);

Laboratory abnormalities : Hypoglycosylation of plasma proteins (patient A); Increased levels of shortened plasma and urinary dolichols;

Prefixed ID : #613861;

Details

Origin ID

613861;

UMLS CUI

C3151227;

Currated CISMeF NLP mapping
- retinitis pigmentosa 59 [DO Concept]
DO Cross reference
- retinitis pigmentosa 59 [DO Concept]
Genes related to phenotype
- Dehydrodolichyl diphosphate synthase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cryptorchidism [HPO term]
- Cystoid macular edema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Hepatomegaly [HPO term]
- Intrauterine growth retardation [HPO term]
- Micropenis [HPO term]
- Renal insufficiency [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
See also inter- (CISMeF)
- dehydrodolichyl diphosphate synthase subunit [ORDO Gene]
- dehydrodolichyl diphosphate synthase subunit [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- retinitis pigmentosa 59 [DO Concept]

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