Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome | |
| fr | Syndrome de retard de croissance intra-utérin-petite taille-diabète de l'adulte jeune | |
| de | Intrauterine Wachstumsretardierung-Kleinwuchs-früh-adulter Diabetes-Syndrom | |
| es | Síndrome de restricción del crecimiento intrauterino-talla baja-diabetes de inicio precoz en el adulto | |
| it | Sindrome ritardo della crescita prenatale-bassa statura-diabete a esordio nella prima età adulta | |
| nl | Intra-uteriene groeiachterstand - kleine gestalte - diabetes met aanvang in de vroege volwassenheid-syndroom | |
| pt | Síndrome de restrição de crescimento intrauterino-baixa estatura-diabetes com início no adulto | |
| pl | Zespół wewnątrzmacicznego zahamowania wzrosu płodu, niskiego wzrostu i cukrzycy | |
| cs | Syndrom zahrnující intrauterinní růstovou restrikci, malý vzrůst a diabetes s nástupem v časné dospělosti | |
| uk | Синдром внутрішньоутробної затримки росту-низькорослості-раннього дорослого діабету | |
| zh | 宫内生长受限-身材矮小-成年早期糖尿病综合征 | |
| tr | Rahim içi büyüme kısıtlaması-kısa boy-erken yetişkin başlangıçlı diyabet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | attributed | validated |
| MONDO | 0018573 | E | validated | |
| UMLS | C5681180 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDKN1C | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1786 | ENSG00000129757 | 600856 | 11p15.4 | cyclin dependent kinase inhibitor 1C | 25057881[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 25057881[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25057881[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
3 annotations · validated 2016-11-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008734 | Decreased testicular size | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0004322 | Short stature | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25057881{PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436144
- This record as JSON: /data/d/436144.json