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.
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
Search interest in BRCC3
Potential gene panels for BRCC3 gene
BRCC3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the BRCC3 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TONSL CHMP2B CNNM2 KCNA2 ARL6IP1 HNRNPH2 LYN