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.
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
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
Search interest in DNAJC21
Potential gene panels for DNAJC21 gene
DNAJC21 Sequencing Panel
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 panelInherited Bone Marrow Failure Sequencing Panel Panel
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 panelHereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
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 panelSevere Congenital Neutropenia Sequencing Panel with CNV Detection Panel
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 panelDNAJC21 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNAJC21 gene.
More info about this panelPrimary Immunodeficiency Panel Panel
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 panelComprehensive Hematology Panel Panel
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 panelBone Marrow Failure Syndrome Panel Panel
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 panelAnemia Panel Panel
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
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