MAD2L2 gene related symptoms and diseases
All the information presented here about the MAD2L2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MAD2L2 gene
Symptoms // Phenotype | % Cases |
---|---|
Short stature | Very Common - Between 80% and 100% cases |
Anemia | Very Common - Between 80% and 100% cases |
Thrombocytopenia | Very Common - Between 80% and 100% cases |
Neutropenia | Very Common - Between 80% and 100% cases |
Bone marrow hypocellularity | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MAD2L2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Chromosome breakage
- Microcephaly
Not very common - Between 30% and 50% cases
- Multiple cafe-au-lait spots
- Glucose intolerance
- Hypoplasia of the ulna
- Squamous cell carcinoma
- Ectopic kidney
- Hydroureter
And 157 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MAD2L2 gene
Here you will find a list of rare diseases related to the MAD2L2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV
Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV
- Short stature
- Microcephaly
- Anemia
- Thrombocytopenia
- Neutropenia
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP V; FANCV
SOURCES: OMIM
FANCONI ANEMIA
Alternate names
FANCONI ANEMIA Is also known as fanconi pancytopenia, fanconi anemia, fa
Description
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
Most common symptoms of FANCONI ANEMIA
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Microcephaly
More info about FANCONI ANEMIA
Search interest in MAD2L2
Potential gene panels for MAD2L2 gene
Fanconi Anemia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Fanconi Anemia Sequencing Panel with CNV Detection that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T FANCI PALB2
More info about this panelNGS Panel for Fanconi anemia Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Fanconi anemia that also includes the following genes: BRCA1 BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI
More info about this panelMAD2L2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MAD2L2 gene.
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelFanconi Anemia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Fanconi Anemia: gene sequencing panel that also includes the following genes: BRCA2 XRCC2 BRIP1 FANCL FANCM SLX4 UBE2T RFWD3 FANCI PALB2
More info about this panelEsophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel that also includes the following genes: BRCA2 SOX2 XRCC2 BRIP1 CHD7 FANCL FANCM SLX4 UBE2T RFWD3
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