Wolfram-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WFSL
Wolfram-like syndrome, autosomal dominant
Hearing loss, progressive, with optic atrophy and/or impaired glucose regulation
Number of Symptoms 17
OrphanetNr: 411590
OMIM Id: 614296
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 11 families - PMID: 16648378; 20069065; 21538838; 18544103 [IBIS]
Inheritance: Autosomal dominant
- PMID: 16648378 [IBIS]
Age of onset: Neonatal
Infancy
Childhood
- PMID: 21538838 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant optic atrophy
 -Rare eye disease
 -Rare genetic disease
Rare genetic diabetes mellitus
 -Rare genetic disease
Rare insulin-dependent diabetes mellitus
 -Rare endocrine disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Comment:

We identified one novel WFS1 missense mutation E864K, c.2590G-A in exon 8 that co-segregates with ADOA combined with hearing impairment and impaired glucose regulation. This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation (PMID:16648378). In conclusion, our observation confirms the involvement of the WFS1 gene in another autosomal dominant monogenic form of diabetes mellitus that can be associated with hearing impairment and optic atrophy (PMID:18544103).

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract 16648378 IBIS 454 / 7739
2
 (HPO:0000648) Optic atrophy 16648378; 20069065; 21538838; 18544103 IBIS 238 / 7739
3
 (HPO:0000543) Optic disc pallor 16648378; 21538838 IBIS 67 / 7739
4
 (HPO:0000551) Abnormality of color vision 16648378 IBIS 20 / 7739
5
 (HPO:0000642) Red-green dyschromatopsia 20069065 IBIS 25 / 7739
6
 (HPO:0000505) Visual impairment 16648378 IBIS 297 / 7739
7
 (HPO:0001952) Abnormal glucose tolerance 16648378 IBIS 9 / 7739
8
 (HPO:0000739) Anxiety 16648378; 21538838 IBIS 67 / 7739
9
 (HPO:0000716) Depression 21538838 IBIS 99 / 7739
10
 (HPO:0000738) Hallucinations 21538838 IBIS 60 / 7739
11
 (HPO:0002360) Sleep disturbance 16648378 IBIS 113 / 7739
12
 (MedDRA:10065604) Suicidal behaviour 21538838 IBIS 3 / 7739
13
 (HPO:0000408) Progressive sensorineural hearing impairment 20069065; 21538838; 18544103 IBIS 28 / 7739
14
 (HPO:0000873) Diabetes insipidus 21538838 IBIS 34 / 7739
15
 (HPO:0000819) Diabetes mellitus 16648378; 18544103 IBIS 131 / 7739
16
 (HPO:0001730) Progressive hearing impairment 16648378 IBIS 29 / 7739
17
 (HPO:0030644) Blind-spot enlargment 20069065 IBIS 1 / 7739

Associated genes:

WFS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: