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Hydrocephalus, nonsyndromic, autosomal recessive 1(HYC1)

MedGen UID:: 854455
•Concept ID:: C3887608
•: Disease or Syndrome

Synonyms:	Congenital hydrocephalus 1; Hydrocephalus, nonsyndromic, autosomal recessive; Nonsyndromic Hydrocephalus, CCDC88C-Related

Gene (location): Gene(s) directly associated with this condition or phenotype.	CCDC88C (14q32.11-32.12)

Monarch Initiative:	MONDO:0009360
OMIM®:	236600

Definition

Congenital hydrocephalus-1 (HYC1) 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 HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p23; HYC3 (617967), caused by mutation in the WDR81 gene (614218) on chromosome 17p13; HYC4 (618667), caused by mutation in the TRIM71 gene (618570) on chromosome 3p22; and HYC5 (620241), caused by mutation in the SMARCC1 gene (601732) on chromosome 3p23. An X-linked form of congenital hydrocephalus (HSAS, HYCX; 307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from OMIM]

Clinical features

From HPO

Hydrocephalus

MedGen UID:: 9335
•Concept ID:: C0020255
•: Disease or Syndrome

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Ventriculomegaly

MedGen UID:: 480553
•Concept ID:: C3278923
•: Finding

An increase in size of the ventricular system of the brain.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Abnormality of the nervous system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHydrocephalus
- Congenital hydrocephalus
  - CROGVHydrocephalus, congenital, 3, with brain anomalies
  - CROGVHydrocephalus, nonsyndromic, autosomal recessive 1
  - CROGVHydrocephalus, nonsyndromic, autosomal recessive 2

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Abnormality of the nervous system
        Congenital hydrocephalus
        Hydrocephalus, nonsyndromic, autosomal recessive 1

Recent clinical studies

Diagnosis

Mutation in MPDZ causes severe congenital hydrocephalus.

Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS
J Med Genet 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. PMID: 23240096

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Clinical prediction guides

Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A
Acta Neuropathol Commun 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. PMID: 28460636 Free PMC Article

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Hydrocephalus, nonsyndromic, autosomal recessive 1(HYC1)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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