Details of Disease

General Information of Disease (ID: DIS9YQSP)

Disease Name Fibrosis, neurodegeneration, and cerebral angiomatosis
Synonyms FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS; FINCA; FINCA syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DIS9YQSP: Fibrosis, neurodegeneration, and cerebral angiomatosis
Disease Identifiers
MONDO ID
MONDO_0032651
UMLS CUI
C4748939
OMIM ID
618278
MedGen ID
1648312

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NHLRC2 OTY4HPWB Definitive Autosomal recessive [1]
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References

1 Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome. J Hum Genet. 2020 Oct;65(10):911-915. doi: 10.1038/s10038-020-0776-0. Epub 2020 May 21.