Wolfram-Like Syndrome, Autosomal Dominant malady
Categories: Genetic diseases, Eye diseases, Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases
Aliases & Descriptions for Wolfram-Like Syndrome, Autosomal Dominant:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: young Adult
wolfram-like syndrome, autosomal dominant:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Eye diseases, Ear diseases, Endocrine diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
OMIM:50 This autosomal dominant Wolfram-like syndrome is characterized by the clinical triad of congenital progressive hearing... (614296) more...
MalaCards based summary: Wolfram-Like Syndrome, Autosomal Dominant, also known as wolfram-like syndrome autosomal dominant, is related to wolfram syndrome-like disease, and has symptoms including glaucoma, psychosis and autism. An important gene associated with Wolfram-Like Syndrome, Autosomal Dominant is WFS1 (Wolframin ER Transmembrane Glycoprotein). Affiliated tissues include eye.
UniProtKB/Swiss-Prot:68 Wolfram-like syndrome autosomal dominant: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle- frequency ranges.
Diseases in the Wolfram Syndrome family:
Diseases related to Wolfram-Like Syndrome, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
Symptoms by clinical synopsis from OMIM:614296
Clinical features from OMIM:614296
Symptoms:52 (show all 22)
HPO human phenotypes related to Wolfram-Like Syndrome, Autosomal Dominant:(show all 10)
Genetic tests related to Wolfram-Like Syndrome, Autosomal Dominant:
MalaCards organs/tissues related to Wolfram-Like Syndrome, Autosomal Dominant:34
UniProtKB/Swiss-Prot genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:68
Clinvar genetic disease variations for Wolfram-Like Syndrome, Autosomal Dominant:5
Search GEO for disease gene expression data for Wolfram-Like Syndrome, Autosomal Dominant.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet