Alport Syndrome, Autosomal Dominant malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Ear diseases, Fetal diseases
Aliases & Descriptions for Alport Syndrome, Autosomal Dominant:
Orphanet epidemiological data:51
autosomal dominant alport syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Nephrological diseases, Ear diseases
Rare eye diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
OMIM:49 Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss... (104200) more...
MalaCards based summary: Alport Syndrome, Autosomal Dominant, also known as autosomal dominant alport syndrome, is related to alport syndrome, autosomal recessive and alport syndrome, and has symptoms including diffuse glomerular basement membrane lamellation, thickening of the glomerular basement membrane and stage 5 chronic kidney disease. An important gene associated with Alport Syndrome, Autosomal Dominant is COL4A3 (Collagen Type IV Alpha 3), and among its related pathways are Collagen biosynthesis and modifying enzymes and PI3K-Akt signaling pathway. Affiliated tissues include eye and kidney, and related mouse phenotype hearing/vestibular/ear.
NIH Rare Diseases:45 Autosomal dominant alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. people with alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. the eye abnormalities seen in this condition seldom lead to vision loss. alport syndrome can have different patterns of inheritance. alport syndrome has autosomal dominant inheritance in about 5 percent of cases. people with this form of alport syndrome have one mutation in either the col4a3 or col4a4 gene in each cell. last updated: 10/24/2011
UniProtKB/Swiss-Prot:67 Alport syndrome, autosomal dominant: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.
HPO human phenotypes related to Alport Syndrome, Autosomal Dominant:(show all 15)
MalaCards organs/tissues related to Alport Syndrome, Autosomal Dominant:33
UniProtKB/Swiss-Prot genetic disease variations for Alport Syndrome, Autosomal Dominant:67
Clinvar genetic disease variations for Alport Syndrome, Autosomal Dominant:5
Search GEO for disease gene expression data for Alport Syndrome, Autosomal Dominant.
Pathways related to Alport Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 15)
Cellular components related to Alport Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Alport Syndrome, Autosomal Dominant according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet