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.

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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



More info about GERMINOMA OF THE CENTRAL NERVOUS SYSTEM

SOURCES: ORPHANET


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

JMJD1C Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JMJD1C gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RELA GCDH FLRT3 TAF4B ITGB3 SLC9A1

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