Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
historical
Synonyms: Furukawa-Takagi-Nakao syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare hereditary ataxia characterized by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome | Furukawa-Takagi-Nakao syndrome |
| fr | Syndrome d'atrophie musculaire-ataxie-rétinite pigmentaire-diabète | Syndrome de Furukawa-Takagi-Nakao |
| de | Muskelatrophie-Ataxie-Retinitis pigmentosa-Diabetes mellitus-Syndrom | Furukawa-Takagi-Nakao-Syndrom |
| es | Síndrome de atrofia muscular-ataxia-retinosis pigmentaria-diabetes mellitus | |
| it | Sindrome atrofia muscolare-atassia-retinite pigmentosa-diabete mellito | Sindrome di Furukawa-Takagi-Nakao |
| nl | Musculaire atrofie - ataxie - retinitis pigmentosa - diabetes mellitus | Musculaire atrofie - ataxie - retinitis pigmentosa - diabetes mellitus |
| pt | Síndrome de atrofia muscular-ataxia-retinite pigmentosa-diabetes mellitus | Síndrome Furukawa-Takagi-Nakao |
| pl | Atrofia mięśni - ataksja - zwyrodnienie barwnikowe siatkówki - cukrzyca | Zespół Furukawa, Takagi i Nakao |
| cs | Syndrom zahrnující svalovou atrofii, ataxii, retinitis pigmentosa a diabetes mellitus | Furukawaův-Takagiův-Nakaové syndrom · Furukawa-Takagi-Nakaové syndrom |
| uk | Мязова атрофія-атаксія-пігментна дегенерація сітківки-цукровий діабет | Синдром Фурукава-Такагі-Накао |
| zh | 肌萎缩-共济失调-色素性视网膜炎-糖尿病综合征 | Furukawa-Takagi-Nakao综合征 |
| tr | Kas atrofisi-ataksi-retinitis pigmentosa-diabetes mellitus sendromu | Furukawa-Takagi-Nakao sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158500 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0008023 | E | validated | |
| MeSH | C538193 | E | validated | |
| UMLS | C2931765 | E | validated | |
| GARD | 2417 | 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 (2):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 5748751[PMID]_6302225[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5748751[PMID]_6302225[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001251 | Ataxia | |
| HP:0003198 | Myopathy | |
| HP:0005978 | Type II diabetes mellitus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2579
- This record as JSON: /data/d/2579.json