Wolfram-like syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wolfram-like syndrome | |
| fr | Syndrome de Wolfram-like | |
| de | Wolfram-ähnliches Syndrom | |
| es | Síndrome similar a Wolfram | Síndrome de Wolfram-like |
| it | Sindrome Wolfram-simile | |
| nl | Wolfram-achtig syndroom | |
| pt | Síndrome semelhante a Wolfram | |
| pl | Zespół podobny do zespołu Wolframa | |
| cs | Wolfram-like syndrom | |
| uk | Вольфрам-подібний синдром | |
| zh | Wolfram样综合征 | |
| tr | Wolfram benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614296 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| MONDO | 0013673 | E | validated | |
| UMLS | C4518338 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:181371Rare diabetes mellitus type 1
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WFS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:12762 | ENSG00000109501 | 606201 | 4p16.1 | wolframin ER transmembrane glycoprotein | 20069065[PMID]_20301750[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
22 annotations · validated 2015-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0000726 | Dementia | |
| HP:0000716 | Depression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000648 | Optic atrophy | |
| HP:0000709 | Psychosis | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000863 | Central diabetes insipidus | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0000823 | Delayed puberty | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0000501 | Glaucoma | |
| HP:0001952 | Glucose intolerance | |
| HP:0000026 | Male hypogonadism | |
| HP:0003477 | Peripheral axonal neuropathy | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0002073 | Progressive cerebellar ataxia | |
| Occasional (29-5%) | ||
| HP:0000821 | Hypothyroidism | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0008850 | Severe postnatal growth retardation | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 16648378[PMID]_21538838[PMID]_18544103[PMID]_12107816[PMID]_7490992[PMID]_20301750[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411590
- This record as JSON: /data/d/411590.json