Short fifth metacarpals-insulin resistance syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short fifth metacarpals-insulin resistance syndrome | |
| fr | Syndrome de résistance à l'insuline-cinquièmes métacarpiens courts | |
| de | Kurzer fünfter Mittelhandknochen-Insulinresistenz-Syndrom | |
| es | Síndrome de quintos metacarpianos cortos-resistencia a la insulina | |
| it | Sindrome quinto metacarpo corto-resistenza all'insulina | |
| nl | Korte vijfde metacarpalen - insulineresistentie-syndroom | |
| pt | Resistência à insulina - quintos metacarpianos curtos | |
| pl | Skrócone piąte kości śródręcza - insulinooporność | |
| cs | Syndrom zahrnující zkrácený pátý metakarp a inzulinovou rezistenci | |
| uk | Синдром коротких пятих пясткових кісток-інсулінорезистентності | |
| zh | 胰岛素抵抗综合征伴第五掌骨短小 | |
| tr | Kısa beşinci metakarpal-insülin direnci sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E14.9 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0019017 | E | validated | |
| UMLS | C4303621 | 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 (1):
- ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
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 | 6 cases | Worldwide | Case(s) | Validated | 16132981[PMID]_12786688[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.
HPO phenotypes
6 annotations · validated 2016-04-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000842 | Hyperinsulinemia | |
| HP:0001742 | Nasal congestion | |
| HP:0010047 | Short 5th metacarpal | |
| HP:0004322 | Short stature | |
| HP:0004444 | Spherocytosis | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 16132981[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/66518
- This record as JSON: /data/d/66518.json