Branchiootorenal Spectrum Disorders malady
Categories: Genetic diseases (common), Nephrological diseases
Aliases & Descriptions for Branchiootorenal Spectrum Disorders:
Penetrance: based on careful clinical studies of large pedigrees, branchiootorenal spectrum disorders appear to have 100% penetrance, although expressivity is highly variable [chang et al 2004]...
Global: Genetic diseases (common)
Anatomical: Nephrological diseases
MalaCards based summary: Branchiootorenal Spectrum Disorders, also known as branchiootorenal syndrome, is related to branchiootic syndrome 1 and branchiootorenal syndrome 1, with or without cataracts. An important gene associated with Branchiootorenal Spectrum Disorders is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotypes are endocrine/exocrine gland and muscle.
GeneReviews for NBK1380
Search GEO for disease gene expression data for Branchiootorenal Spectrum Disorders.
Biological processes related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:(show all 17)
Molecular functions related to Branchiootorenal Spectrum Disorders according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet