JMJD1C gene related symptoms and diseases
All the information presented here about the JMJD1C gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to JMJD1C gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Laryngomalacia | Uncommon - Between 30% and 50% cases |
| Posterior embryotoxon | Uncommon - Between 30% and 50% cases |
| Foot polydactyly | Uncommon - Between 30% and 50% cases |
| Hyperthyroidism | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with JMJD1C gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Bowel incontinence
- Dysphasia
- Acne
- Chronic otitis media
- Overfolded helix
- Abnormality of the thorax
- Hand polydactyly
- Cholelithiasis
And 118 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to JMJD1C gene
Here you will find a list of rare diseases related to the JMJD1C. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
22Q11.2 DELETION SYNDROME
Alternate names
22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11, digeorge sequence, sedlackova syndrome, takao syndrome, velocardiofacial syndrome, shprintzen syndrome, conotruncal anomaly face syndrome, digeorge syndrome, catch 22, cayler cardiofacial syndrome, microdeletion 22q11.2, 22q11ds
Description
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
Most common symptoms of 22Q11.2 DELETION SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about 22Q11.2 DELETION SYNDROME
SOURCES: ORPHANET
GERMINOMA OF THE CENTRAL NERVOUS SYSTEM
Search interest in JMJD1C
Potential gene panels for JMJD1C gene
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
JMJD1C Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the JMJD1C gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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