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Perrault syndrome 3
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.
Uniprot Description A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614129
UMLS:C3808414
MONDO:0013588
High level summary of knowledge for a disease, including descriptions and datasource references.