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.
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
Search interest in DNAJC3
Potential gene panels for DNAJC3 gene
Neonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Deletion/Duplication Panel Panel
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 panelNeonatal Diabetes Mellitus and Maturity-Onset Diabetes of the Young Panel Panel
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 panelAtaxia Exome Panel Panel
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 panelNeurogenetic Disorders - panels Panel
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 panelAtaxia and differential diagnoses Panel Panel
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 panelAtaxia, autosomal recessive and X-linked Panel Panel
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
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