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RFWD3 gene related symptoms and diseases

All the information presented here about the RFWD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to RFWD3 gene

Symptoms // Phenotype % Cases
Absent thumb Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Ventriculomegaly Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Anemia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RFWD3 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Myelodysplasia
  • Intrauterine growth retardation

  • Not very common - Between 30% and 50% cases

  • Irregular hyperpigmentation
  • Myeloid leukemia
  • Multiple cafe-au-lait spots
  • Acute myeloid leukemia
  • Abnormality of blood and blood-forming tissues
  • Absent radius

And 165 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to RFWD3 gene

Here you will find a list of rare diseases related to the RFWD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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

FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW

Most common symptoms of FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW

  • Microcephaly
  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Ventriculomegaly


More info about FANCONI ANEMIA, COMPLEMENTATION GROUP W; FANCW

SOURCES: OMIM


Potential gene panels for RFWD3 gene

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
Spain.

RFWD3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RFWD3 gene.

More info about this panel
United States.

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
Canada.

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
Canada.

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