DNAJC21 gene related symptoms and diseases

All the information presented here about the DNAJC21 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNAJC21 gene

Symptoms // Phenotype % Cases
Bone marrow hypocellularity Very Common - Between 80% and 100% cases
Acute myeloid leukemia Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Neoplasm Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNAJC21 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pancytopenia
  • Leukemia
  • Myeloid leukemia
  • Microdontia
  • Not very common - Between 30% and 50% cases

  • Recurrent aphthous stomatitis
  • Acute monocytic leukemia
  • Recurrent viral infections
  • Aplastic anemia

And 68 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNAJC21 gene

Here you will find a list of rare diseases related to the DNAJC21. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SHWACHMAN-DIAMOND SYNDROME


Alternate names

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction, shwachman syndrome, shwachman-bodian syndrome, shwachman-diamond syndrome, shwachman-bodian-diamond syndrome, sds, lipomatosis of pancreas, congenital

Description

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

Most common symptoms of SHWACHMAN-DIAMOND SYNDROME

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


More info about SHWACHMAN-DIAMOND SYNDROME

SOURCES: OMIM ORPHANET

BONE MARROW FAILURE SYNDROME 3; BMFS3


Description

Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Most common symptoms of BONE MARROW FAILURE SYNDROME 3; BMFS3

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Visual impairment


More info about BONE MARROW FAILURE SYNDROME 3; BMFS3

SOURCES: OMIM


Potential gene panels for DNAJC21 gene

DNAJC21 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 DNAJC21 gene.

More info about this panel

Inherited Bone Marrow Failure Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7

More info about this panel

Severe Congenital Neutropenia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Severe Congenital Neutropenia Sequencing Panel with CNV Detection that also includes the following genes: SMARCD2 TAZ WAS WIPF1 WDR1 VPS45 HAX1 SBDS LYST VPS13B

More info about this panel

DNAJC21 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNAJC21 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Bone Marrow Failure Syndrome Panel Panel

Finland.

By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel

Anemia Panel Panel

Finland.

By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29

More info about this panel


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