CCDC8 gene related symptoms and diseases

All the information presented here about the CCDC8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CCDC8 gene

Symptoms // Phenotype % Cases
Short thorax Very Common - Between 80% and 100% cases
Short neck Very Common - Between 80% and 100% cases
Hyperlordosis Very Common - Between 80% and 100% cases
Clinodactyly Very Common - Between 80% and 100% cases
Triangular face Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CCDC8 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Protruding ear
  • Midface retrusion
  • Slender long bone
  • Malar flattening
  • Long philtrum
  • Small for gestational age
  • Dolichocephaly
  • Anteverted nares

And 67 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CCDC8 gene

Here you will find a list of rare diseases related to the CCDC8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


3M SYNDROME


Alternate names

3M SYNDROME Is also known as le merrer syndrome, 3-m syndrome, 3m syndrome, gloomy face syndrome, yakut short stature syndrome, dolichospondylic dysplasia

Description

3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

Most common symptoms of 3M SYNDROME

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


More info about 3M SYNDROME

SOURCES: ORPHANET OMIM

THREE M SYNDROME 3; 3M3


Alternate names

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Description

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

Most common symptoms of THREE M SYNDROME 3; 3M3

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


More info about THREE M SYNDROME 3; 3M3

SOURCES: OMIM


Potential gene panels for CCDC8 gene

Comprehensive Primordial Dwarfism Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Comprehensive Primordial Dwarfism Panel that also includes the following genes: PLK4 XRCC4 CRIPT PCNT ORC6 CENPJ CDC6 GMNN RTTN CDK5RAP2

More info about this panel

3-M Syndrome via CCDC8 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CCDC8 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Three M syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome NGS panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Three M syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome Deletion / Duplication panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Three M syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Three M syndrome Comprehensive panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

3M syndrome type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CCDC8 gene.

More info about this panel

Selected Genetic Syndromes with skeletal involvement Panel Panel

Germany.

By CeGaT GmbH Selected Genetic Syndromes with skeletal involvement Panel that also includes the following genes: SALL1 SF3B4 TBCE TBX15 TBX3 TBX5 NIN SALL4 PCNT ORC6

More info about this panel

CCDC8 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CCDC8 gene.

More info about this panel

Comprehensive Short Stature Syndrome Panel Panel

Finland.

By Blueprint Genetics Comprehensive Short Stature Syndrome Panel that also includes the following genes: RIT1 BCS1L RRAS SHOX BRAF SMC1A SOS1 SOX2 SOX3 STAT5B

More info about this panel

3-M Syndrome / Primordial Dwarfism Panel Panel

Finland.

By Blueprint Genetics 3-M Syndrome / Primordial Dwarfism Panel that also includes the following genes: BCS1L XRCC4 PCNT SRCAP ORC6 CENPJ CDC45 CDC6 RTTN CUL7

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes Panel

Spain.

By Reference Laboratory Genetics 3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel

3-M Syndrome: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics 3-M Syndrome: gene sequencing panel that also includes the following genes: CUL7 CCDC8 OBSL1

More info about this panel


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