DNAJC3 gene related symptoms and diseases

All the information presented here about the DNAJC3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to DNAJC3 gene

Symptoms // Phenotype % Cases
Short stature Very Common - Between 80% and 100% cases
Diabetes mellitus Very Common - Between 80% and 100% cases
Sensory ataxia Very Common - Between 80% and 100% cases
Areflexia of lower limbs Very Common - Between 80% and 100% cases
Demyelinating peripheral neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DNAJC3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Atrophy/Degeneration affecting the brainstem
  • Type I diabetes mellitus
  • Sensorimotor neuropathy
  • Decreased body weight
  • Bilateral sensorineural hearing impairment
  • Gait ataxia
  • Babinski sign
  • Hearing impairment

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNAJC3 gene

Here you will find a list of rare diseases related to the DNAJC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME


Alternate names

JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME Is also known as combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome

Most common symptoms of JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cognitive impairment


More info about JUVENILE-ONSET DIABETES MELLITUS-CENTRAL AND PERIPHERAL NEURODEGENERATION SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for DNAJC3 gene

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel that also includes the following genes: BLK SLC2A2 STAT3 KLF11 WFS1 ZBTB20 NEUROG3 LRBA CDKN1C CEL

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Ataxia, autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14

More info about this panel


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