KEGG DISEASE: Hydrocephalus due to congenital stenosis of aqueduct of Sylvius

DISEASE: Hydrocephalus due to congenital stenosis of aqueduct of Sylvius

Entry

H02458                      Disease

Name

Hydrocephalus due to congenital stenosis of aqueduct of Sylvius;
X-linked hydrocephalus

Supergrp

L1 syndrome [DS:H01034]
Congenital hydrocephalus [DS:H01677]

Description

Hydrocephalus due to congenital stenosis of aqueduct of Sylvius (HSAS) is a rare X-linked disease characterized by severe hydrocephaly. HSAS is the most common of the inherited form of hydrocephalus. It is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA04  Congenital hydrocephalus
     H02458  Hydrocephalus due to congenital stenosis of aqueduct of Sylvius

Gene

L1CAM [HSA:3897] [KO:K06550]

Other DBs

ICD-11:

LA04

MeSH:

D006849

OMIM:

307000

Reference

PMID:500393

Authors