Hydrocephalus, Congenital, 1; Hyc1

Description

Congenital hydrocephalus-1 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 (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

Clinical Features

Top most frequent phenotypes and symptoms related to Hydrocephalus, Congenital, 1; Hyc1

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly
  • Hydrocephalus
  • Intellectual disability, severe
  • Blindness
  • Vomiting
  • Headache

And another 14 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Hydrocephalus, Congenital, 1; Hyc1 have a estimated birth prevalence of 46.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Hydrocephalus, Congenital, 1; Hyc1 Is also known as hydrocephaly, hydrocephalus, nonsyndromic, autosomal recessive 1, formerly, ventriculomegaly.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hydrocephalus, Congenital, 1; Hyc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Hydrocephalus Panel.

By Genetic Services Laboratory University of Chicago (United States).

CCDC88C, L1CAM, MPDZ
Specificity
34 %
Genes
100 %
Autosomal recessive non-syndromic hydrocehalus panel.

By Genetic Services Laboratory University of Chicago (United States).

CCDC88C, MPDZ
Specificity
50 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Hydrocephalus, nonsyndromic, type 1 AR (sequence analysis of CCDC88C gene).

By CGC Genetics (Portugal).

CCDC88C
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Hydrocephalus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ZIC3, HDAC6, CCND2, CRB2, CCDC88C, FLVCR2, WDR81, DNAI1, EML1, AKT3, AP1S2, L1CAM, MPDZ, P4HB, PIK3R2, POMT1, PTEN
Specificity
6 %
Genes
100 %
Hydrocephalus, Congenital, 1 via CCDC88C Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CCDC88C
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %

We have 14 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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