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.

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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

SOURCES: OMIM ORPHANET


Potential gene panels for MAD2L2 gene

Fanconi Anemia Sequencing Panel with CNV Detection Panel

United States.

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 panel

NGS Panel for Fanconi anemia Panel

Spain.

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 panel

MAD2L2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MAD2L2 gene.

More info about this panel

Tempus xT assay Panel

United States.

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 panel

Tempus xO assay Panel

United States.

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 panel

Fanconi Anemia: gene sequencing panel Panel

Canada.

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 panel

Esophageal Atresia/Tracheoesophageal Fistula: gene sequencing panel Panel

Canada.

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

More info about this panel


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