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Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary breast and ovarian cancer syndrome
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Primary peritoneal carcinoma
Fanconi anemia
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial congenital mirror movements
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
DDOST-CDG
Leigh syndrome with leukodystrophy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Glucocorticoid resistance
Hereditary hyperekplexia
Intellectual deficit, X-linked, Turner type
Microcephalic primordial dwarfism, Alazami type
Papillary or follicular thyroid carcinoma
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Synonym(s):
- Syndromic Moyamoya disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
BRCC3 P46736300617
No signs/symptoms info available.