ORPHA:2297
Insulin-resistance syndrome type A
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare insulin-resistance syndrome characterized by marked hyperinsulinemia, frequently associated with glucose tolerance abnormalities or diabetes, acanthosis nigricans, and hyperandrogenism in females.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Insulin-resistance syndrome type A | |
| fr | Syndrome d'insulino-résistance type A | Syndrome de résistance à l'insuline type A |
| de | Insulinresistenz-Syndrom Typ A | |
| es | Síndrome de resistencia a la insulina tipo A | |
| it | Sindrome da insulino-resistenza, tipo A | |
| nl | Insulineresistentiesyndroom type A | |
| pt | Síndrome resistência à insulina tipo A | |
| pl | Zespół oporności na insulinę typu A | |
| cs | Syndrom inzulinové rezistence, typ A | |
| uk | Синдром інсулінорезистентності, тип А | |
| zh | 胰岛素抵抗综合征A型 | |
| tr | A tipi insülin direnci sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610549 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0012520 | E | validated | |
| UMLS | C0342336 | E | validated | |
| GARD | 3008 | 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:399853Rare female infertility due to an anomaly of ovarian function
rare infertility disorders - ORPHA:400022Rare female infertility due to an anomaly of ovarian function of genetic origin
rare genetic diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| INSR | Disease-causing germline mutation(s) in | Assessed | HGNC:6091 | ENSG00000171105 | 147670 | 19p13.2 | insulin receptor | 8288049[PMID]_20339196[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000823 | Delayed puberty | |
| HP:0002230 | Generalized hirsutism | |
| HP:0007440 | Generalized hyperpigmentation | |
| HP:0000962 | Hyperkeratosis | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0005978 | Type II diabetes mellitus | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2297
- This record as JSON: /data/d/2297.json