CCBE1 gene related symptoms and diseases

All the information presented here about the CCBE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CCBE1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Hypocalcemia Very Common - Between 80% and 100% cases
Ectopic kidney Very Common - Between 80% and 100% cases
Abnormality of dental morphology Very Common - Between 80% and 100% cases
Pleural effusion Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CCBE1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypoalbuminemia
  • Pyloric stenosis
  • Reduced number of teeth
  • Oligodontia
  • Cutaneous syndactyly
  • Abnormal intestine morphology
  • Spina bifida occulta
  • Narrow palate

And 106 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CCBE1 gene

Here you will find a list of rare diseases related to the CCBE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HENNEKAM SYNDROME


Alternate names

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome, lymphatic dysplasia, generalized, hennekam lymphangiectasia-lymphedema syndrome

Description

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

Most common symptoms of HENNEKAM SYNDROME

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


More info about HENNEKAM SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for CCBE1 gene

Non-immune Hydrops Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B

More info about this panel

NGS Vascular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Vascular Disorders Panel that also includes the following genes: SOX18 TEK VEGFC GLMN KRIT1 STAMBP GJC2 ACVRL1 CCM2 CCBE1

More info about this panel

CCBE1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CCBE1 gene.

More info about this panel

CCBE1 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CCBE1 gene.

More info about this panel

Lymphedema NGS Multi-Gene Panel (36 Genes) Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Lymphedema NGS Multi-Gene Panel (36 Genes) that also includes the following genes: BRAF SOS1 SOX18 VEGFC CBL SHOC2 GJC2 TUBGCP6 CDK19 SPRED1

More info about this panel

CCBE1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CCBE1 gene.

More info about this panel

Hennekam syndrome (sequence analysis of CCBE1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CCBE1 gene.

More info about this panel

Lymphedema Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Lymphedema Sequencing Panel with CNV Detection that also includes the following genes: SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 GJA1

More info about this panel

Hennekam Lymphangiectasia-Lymphedema Syndrome via CCBE1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CCBE1 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

Hennekam lymphangiectasia-lymphedema syndrome type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CCBE1 gene.

More info about this panel

Vascular and lymphatic disorders Panel Panel

Germany.

By CeGaT GmbH Vascular and lymphatic disorders Panel that also includes the following genes: SOX18 TREX1 SERPING1 VEGFC KRIT1 GJC2 ACVRL1 CCM2 FAT4 CCBE1

More info about this panel

Primary lymphedema and Hydrops fetalis Panel

Belgium.

By Center for Human Genetics Cliniques Universitaires Saint Luc Primary lymphedema and Hydrops fetalis that also includes the following genes: SOS1 SOX18 VEGFC GJC2 FAT4 PIEZO1 CCBE1 EPHB4 FLT4 FOXC2

More info about this panel

LYMPHEDEMA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LYMPHEDEMA that also includes the following genes: SOX18 ZMPSTE24 GJC2 CCBE1 FLT4 FOXC2 GATA2 KIF11 LMNA

More info about this panel

CCBE1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CCBE1 gene.

More info about this panel

Lymphatic Malformations and Related Disorders Panel Panel

Finland.

By Blueprint Genetics Lymphatic Malformations and Related Disorders Panel that also includes the following genes: SOX18 GJC2 FAT4 PIEZO1 CCBE1 FLT4 FOXC2 GATA2 KIF11 PIK3CA

More info about this panel

Hennekam Syndrome , Sequencing CCBE1 gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CCBE1 gene.

More info about this panel


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