Hydrocephalus, congenital, X-linked

Preferred Label : Hydrocephalus, congenital, X-linked;

Symbol : HYCX;

CISMeF acronym : HSAS; HSAS1; HYCX; XLAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydrocephalus, X-linked; Aqueductal stenosis, X-linked; HSAS1; HSAS; XLAS; Hydrocephalus due to congenital stenosis of aqueduct of sylvius;

Description : The X-linked recessive form of congenital hydrocephalus (HSAS) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference (Rosenthal et al., 1992). See HYC1 (236600) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the L1 cell adhesion molecule gene (L1CAM, 308840.0001);

Prefixed ID : #307000;

Détails

Origin ID

307000;

UMLS CUI

C0265216;

Automatic exact mappings (from CISMeF team)
- Hydrocephalus, X-linked [MeSH concept]
- L1CAM wt Allele [NCIt concept]
- X-linked hydrocephalus syndrome (disorder) [SNOMED CT concept]
- hydrocephalus [DO Concept]
- hydrocephalus, X-Linked, with congenital idiopathic intestinal pseudoobstruction [MeSH concept]
- hydrocephalus, X-Linked, with congenital idiopathic intestinal pseudoobstruction [MeSH Supplementary Concept]
- hydrocephalus, X-linked [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ICD-11 Subcategory]
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ORDO Disease]
DO Cross reference
- hydrocephalus [DO Concept]
False automatic mappings
- L1 syndrome [ORDO Disease]
Genes related to phenotype
- L1 cell adhesion molecule [OMIM gene]
HPO term(s)
- Absent septum pellucidum [HPO term]
- Adducted thumb [HPO term]
- Agenesis of corpus callosum [HPO term]
- Aqueductal stenosis [HPO term]
- Corticospinal tract hypoplasia [HPO term]
- Flexion contracture of thumb [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability [HPO term]
- Macrocephaly [HPO term]
- Spastic paraplegia [HPO term]
- Spasticity [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ORDO Disease]
- L1 syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ORDO Disease]
- Hydrocephalus with stenosis of the aqueduct of Sylvius [ICD-11 Subcategory]
- Hydrocephalus, X-linked [MeSH concept]
- X-linked hydrocephalus syndrome (disorder) [SNOMED CT concept]
- hydrocephalus, X-linked [MeSH Supplementary Concept]
- x-linked hydrocephalus syndrome [SNOMED Notion]

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