CCDC88C gene related symptoms and diseases

All the information presented here about the CCDC88C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CCDC88C gene

Symptoms // Phenotype % Cases
Ataxia Uncommon - Between 30% and 50% cases
Irritability Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CCDC88C gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Headache
  • Dilatation
  • Prominent forehead
  • Mental deterioration
  • Stroke
  • Ventriculomegaly
  • Polymicrogyria
  • Spontaneous abortion

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CCDC88C gene

Here you will find a list of rare diseases related to the CCDC88C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 40


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Description

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 40

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


More info about SPINOCEREBELLAR ATAXIA TYPE 40

SOURCES: ORPHANET OMIM

HYDROCEPHALUS, CONGENITAL, 1; HYC1


Alternate names

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly, hydrocephalus, nonsyndromic, autosomal recessive 1, formerly, ventriculomegaly

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.

Most common symptoms of HYDROCEPHALUS, CONGENITAL, 1; HYC1

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

SOURCES: OMIM ORPHANET

CONGENITAL NON-COMMUNICATING HYDROCEPHALUS


Alternate names

CONGENITAL NON-COMMUNICATING HYDROCEPHALUS Is also known as congenital obstructive hydrocephalus


More info about CONGENITAL NON-COMMUNICATING HYDROCEPHALUS

SOURCES: ORPHANET


Potential gene panels for CCDC88C gene

Comprehensive Hydrocephalus Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Hydrocephalus Panel that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel

Autosomal recessive non-syndromic hydrocehalus panel Panel

United States.

By Genetic Services Laboratory University of Chicago Autosomal recessive non-syndromic hydrocehalus panel that also includes the following genes: CCDC88C MPDZ

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Hydrocephalus, nonsyndromic, type 1 AR (sequence analysis of CCDC88C gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CCDC88C gene.

More info about this panel

Hereditary ataxias (NGS panel for 44 genes) Panel

Portugal.

By CGC Genetics Hereditary ataxias (NGS panel for 44 genes) that also includes the following genes: SACS SLC1A3 SPTBN2 TTPA VAMP1 VLDLR CACNA1A CACNB4 ELOVL4 ABHD12

More info about this panel

Hydrocephalus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hydrocephalus Sequencing Panel with CNV Detection that also includes the following genes: ZIC3 HDAC6 CCND2 CRB2 CCDC88C FLVCR2 WDR81 DNAI1 EML1 AKT3

More info about this panel

Hydrocephalus, Congenital, 1 via CCDC88C Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CCDC88C gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Hydrocephalus, nonsyndromic, autosomal recessive type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CCDC88C gene.

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR

More info about this panel

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel

Hydrocephalus Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hydrocephalus that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

CCDC88C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CCDC88C gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel

SPINOCEREBELLAR ATAXIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX

More info about this panel

Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes Panel

Spain.

By Reference Laboratory Genetics Hydrocephalus , Panel Massive Sequencing (NGS) L1CAM, CCDC88C, MPDZ Genes that also includes the following genes: CCDC88C L1CAM MPDZ

More info about this panel


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