CHAMP1 gene related symptoms and diseases

All the information presented here about the CHAMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHAMP1 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Tented upper lip vermilion Uncommon - Between 30% and 50% cases
Brain atrophy Uncommon - Between 30% and 50% cases
Delayed myelination Uncommon - Between 30% and 50% cases
Open mouth Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CHAMP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Stereotypy
  • Pointed chin
  • Plagiocephaly
  • Sleep apnea
  • Recurrent upper respiratory tract infections
  • Joint hypermobility
  • Incoordination
  • Supernumerary nipple

And 29 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CHAMP1 gene

Here you will find a list of rare diseases related to the CHAMP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40


Most common symptoms of MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Strabismus


More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 40; MRD40

SOURCES: OMIM

AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY



More info about AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY

SOURCES: ORPHANET


Potential gene panels for CHAMP1 gene

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

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

CHAMP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHAMP1 gene.

More info about this panel


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