ORPHA:3463
Wolfram syndrome
Synonyms: Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome · Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome · Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome · Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, genetic, endocrine disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wolfram syndrome | Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome · Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome · DIDMOAD syndrome · Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome · Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome |
| fr | Syndrome de Wolfram | Syndrome DIDMOAD · Syndrome de déficit en arginine vasopressine-diabète sucré-atrophie optique-surdité |
| de | Wolfram-Syndrom | Diabetes insipidus-Diabetes mellitus-Optikusatrophie-Schwerhörigkeit-Syndrom · Arginin-Vasopressin-Mangel-Diabetes mellitus-Optikusatrophie-Hörverlust-Syndrom · DIDMOAD-Syndrom |
| es | Síndrome de Wolfram | Síndrome DIDMOAD · Síndrome de deficiencia de arginina vasopresina-diabetes mellitus-atrofia óptica-hipoacusia · Síndrome de deficiencia de arginina vasopresina-diabetes mellitus-atrofia óptica-sordera · Síndrome de diabetes insípida-diabetes mellitus-atrofia óptica-hipoacusia · Síndrome de diabetes insípida-diabetes mellitus-atrofia óptica-sordera |
| it | Sindrome di Wolfram | Diabete mellito - diabete insipido - atrofia ottica - sordità · Sindrome DIDMOAD · Sindrome deficit di arginina vasopressina-diabete mellito-atrofia ottica-perdita dell'udito · Sindrome deficit di arginina vasopressina-diabete mellito-atrofia ottica-sordità · Sindrome diabete insipido-diabete mellito-atrofia ottica-perdita dell'udito · Sindrome diabete insipido-diabete mellito-atrofia ottica-sordità |
| nl | Syndroom van Wolfram | DIDMOAD-syndroom · Deficiëntie van arginine-vasopressine - diabetes mellitus - opticusatrofie - doofheid-syndroom · Deficiëntie van arginine-vasopressine - diabetes mellitus - opticusatrofie - gehoorverlies-syndroom · Diabetes insipidus - diabetes mellitus - opticusatrofie - doofheid-syndroom · Diabetes insipidus - diabetes mellitus - opticusatrofie - gehoorverlies-syndroom |
| pt | Síndrome Wolfram | Síndrome DIDMOAD · Síndrome de deficiência de arginina vasopressina-diabetes mellitus-atrofia ótica-perda auditiva · Síndrome de deficiência de arginina vasopressina-diabetes mellitus-atrofia ótica-surdez · Síndrome de diabetes insipidus-diabetes mellitus-atrofia ótica-perda auditiva · Síndrome de diabetes insipidus-diabetes mellitus-atrofia ótica-surdez |
| pl | Zespół Wolframa | Moczówka prosta - cukrzyca - atrofia nerwu wzrokowego - głuchota · Moczówka prosta, cukrzyca, atrofia nerwu wzrokowego i głuchota · Zespół DIDMOAD |
| cs | Wolframův syndrom | DIDMOAD syndrom · Syndrom zahrnující diabetes insipidus, diabetes mellitus, atrofii optiku a hluchotu |
| uk | Синдром Вольфрама | Синдром дефіциту аргінін-вазопресину - цукрового діабету - атрофії зорового нерва - глухоти · Синдром дефіциту аргінін-вазопресину - цукрового діабету - атрофіу зорового нерва - втрати слуху · Синдром нецукрового діабету-цукрового діабету-атрофії зорового нерва- глухоти · Синдром нецукрового діабету-цукрового діабету-атрофії зорового нерва- втрати слуху · Синдром DIDMOAD |
| zh | Wolfram综合征 | 尿崩症-糖尿病-视神经萎缩-听力丧失综合征 |
| tr | Wolfram sendromu | DIDMOAD sendromu · Diabetes insipidus-diabetes mellitus-optik atrofi-sağırlık sendromu · Diabetes insipidus-diabetes mellitus-optik atrofi-işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222300 | E | validated | |
| OMIM | 598500 | BTNT | validated | |
| OMIM | 604928 | BTNT | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.5 | NTBT | index | validated |
| MONDO | 0018105 | E | validated | |
| MeSH | D014929 | E | validated | |
| UMLS | C0043207 | E | validated | |
| GARD | 7898 | E | validated | |
| MedDRA | 10078338 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WFS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12762 | ENSG00000109501 | 606201 | 4p16.1 | wolframin ER transmembrane glycoprotein | 16806192[PMID]_12913071[PMID] |
| CISD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24212 | ENSG00000145354 | 611507 | 4q24 | CDGSH iron sulfur domain 2 |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | United Kingdom | Value and class | Validated | 7490992[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.12 / 100 000 | India | Value and class | Validated | 21726277[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Worldwide | Value and class | Validated | ORPHANET_7490992[PMID]_21726277[PMID]_25211237[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.83 / 100 000 | Specific population | Value and class | Validated | 24497219[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Japan | Value and class | Validated | 25211237[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.62 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000873 | Diabetes insipidus | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000648 | Optic atrophy | |
| HP:0001959 | Polydipsia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0100518 | Dysuria | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000112 | Nephropathy | |
| HP:0000639 | Nystagmus | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0001903 | Anemia | |
| HP:0000708 | Atypical behavior | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002871 | Central apnea | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0002019 | Constipation | |
| HP:0000823 | Delayed puberty | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0002592 | Gastric ulcer | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000501 | Glaucoma | |
| HP:0000738 | Hallucinations | |
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0002024 | Malabsorption | |
| HP:0000026 | Male hypogonadism | |
| HP:0003198 | Myopathy | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002360 | Sleep abnormality | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3463
- This record as JSON: /data/d/3463.json