Hydrocephalus, congenital, 1

Preferred Label : Hydrocephalus, congenital, 1;

Symbol : HYC1;

CISMeF acronym : HYC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HYDROCEPHALY; VENTRICULOMEGALY; Hydrocephalus, nonsyndromic, autosomal recessive 1;

Description : Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). - Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coiled-coil domain-containing protein 88C (CCDC88C, 611204.0001);

Prefixed ID : #236600;

Details

Origin ID

236600;

UMLS CUI

C3887608;

Automatic exact mappings (from CISMeF team)
- Cerebral ventriculomegaly (disorder) [SNOMED CT concept]
- Congenital hydrocephalus [ORDO Disease]
- Hycanthone [NCIt concept]
- Hydrocephalus [HPO term]
- Hydrocephalus [MedDRA Preferred Term]
- Hydrocephalus (disorder) [SNOMED CT concept]
- Hydrocephaly [PASCAL descriptor]
- Hydrocephaly [HRDO Sign]
- Hydrocephaly [MedDRA LLT]
- Ventriculomegaly [HPO term]
- Ventriculomeglia [NCIt concept]
- hydrocephalus [MeSH Descriptor]
- hydrocephalus [MeSH concept]
DO Cross reference
- hydrocephalus [DO Concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 88c [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital hydrocephalus [ORDO Disease]
- Congenital non-communicating hydrocephalus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- hydrocephalus [Disease (Nov.)]

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