BRCC3 gene related symptoms and diseases

All the information presented here about the BRCC3 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 BRCC3 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Wide nose Very Common - Between 80% and 100% cases
Abnormal hand morphology Very Common - Between 80% and 100% cases
Abnormality of the nares Very Common - Between 80% and 100% cases
Broad finger Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with BRCC3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital ptosis
  • Abnormal left ventricle morphology
  • Stroke-like episode
  • Premature graying of hair
  • Cerebral hemorrhage
  • Azoospermia
  • Hypergonadotropic hypogonadism
  • Short phalanx of finger

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to BRCC3 gene

Here you will find a list of rare diseases related to the BRCC3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Alternate names

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease, moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism, chromosome xq28 deletion syndrome, 3.4-kb

Description

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

Most common symptoms of MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for BRCC3 gene

BRCC3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the BRCC3 gene.

More info about this panel


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