[DEL] Wolfram-like syndrome, autosomal dominant

General Information (adopted from Orphanet):

Synonyms, Signs: WFSL
Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation
Number of Symptoms 0
OrphanetNr:
OMIM Id: 614296
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal dominant Wolfram-like syndrome is 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 ...
Clinical Description OMIM Eiberg et al. (2006) reported a 3-generation Danish family in which a Wolfram syndrome (see 222300)-like phenotype segregated in an autosomal dominant fashion. The 4 affected individuals had childhood-onset progressive hearing impairment as well as optic atrophy that ...
Molecular genetics OMIM Domenech et al. (2002) screened the WFS1 gene (606201) in 23 patients with both sensorineural deafness and type 2 diabetes mellitus (NIDDM; 125853) and identified 3 different heterozygous missense mutations in 3 unrelated patients, respectively, but stated that ...