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.
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
Search interest in CCBE1
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 United States.
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 United States.
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 United States.
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 Netherlands.
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 Netherlands.
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 Spain.
Hennekam syndrome (sequence analysis of CCBE1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CCBE1 gene.
More info about this panel Portugal.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Belgium.
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 Spain.
CCBE1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CCBE1 gene.
More info about this panel United States.
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 Finland.
Hennekam Syndrome , Sequencing CCBE1 gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CCBE1 gene.
More info about this panel Spain.
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