AHSG gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to AHSG gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Photophobia Very Common - Between 80% and 100% cases
Abnormality of skeletal morphology Very Common - Between 80% and 100% cases
Abnormal nasal morphology Very Common - Between 80% and 100% cases
Alopecia universalis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Sparse body hair
  • Aplasia/Hypoplasia of the eyebrow
  • Intellectual disability, progressive
  • Hypergonadotropic hypogonadism
  • Split hand
  • Sparse scalp hair
  • Falls
  • Ichthyosis

And 17 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AHSG gene

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


ALOPECIA-INTELLECTUAL DISABILITY SYNDROME


Alternate names

ALOPECIA-INTELLECTUAL DISABILITY SYNDROME Is also known as perniola-krajewska-carnevale syndrome, amr syndrome, apmr

Description

Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.

Most common symptoms of ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


More info about ALOPECIA-INTELLECTUAL DISABILITY SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for AHSG gene

AHSG Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AHSG gene.

More info about this panel


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