ORPHA:90301
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome | |
| fr | Syndrome d'acanthosis nigricans-résistance à l'insuline-crampes-hypertrophie acrale | |
| de | Acanthosis nigricans-Insulinresistenz-Muskelkrämpfe Akrenvergrößerung-Syndrom | |
| es | Síndrome de acantosis nigricans-resistencia a la insulina-calambres musculares-agrandamiento acral | |
| it | Sindrome acanthosis nigricans-resistenza all'insulina-crampi muscolari-ingrandimento delle estremità | |
| nl | Acanthosis nigricans - insulineresistentie - spierkrampen - acrale vergroting-syndroom | |
| pt | Síndrome de acantose nigricans-resistência à insulina-cãibras musculares-alargamento acral | |
| pl | Rogowacenie ciemne - oporność na insulinę - mrowienie mięśni - powiększenie kończyn | |
| cs | Syndrom zahrnující acanthosis nigricans, inzulinovou rezistenci, svalové křeče a akrální zvětšení | |
| uk | Синдром чорного акантозу-інсулінорезистентності-мязових судом-збільшення акрального отвору | |
| zh | 黑棘皮病-胰岛素抵抗-肌肉痉挛-肢端肿大综合征 | |
| tr | Akantosis nigrikans-insülin direnci-kas krampları-akral genişleme sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 200170 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | not yet validated |
| ICD-11 | 5A44 | NTBT | attributed | validated |
| MONDO | 0008696 | E | validated | |
| UMLS | C4305258 | E | validated | |
| GARD | 453 | 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 (3):
- ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 6997748[PMID]_6587221[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
9 annotations · validated 2015-11-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0001007 | Hirsutism | |
| HP:0000855 | Insulin resistance | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0003394 | Muscle spasm | |
| HP:0000147 | Polycystic ovaries | |
| Frequent (79-30%) | ||
| HP:0000105 | Enlarged kidney | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 6997748[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90301
- This record as JSON: /data/d/90301.json