Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, syndromic intellectual disability disorder characterized by mild to moderate intellectual disability, facial dysmorphism (including a long face, deep-set eyes, narrow-based, broad nose with nostril colobomata, mandibular prognathism), hypergonadotrophic hypogonadism, eunuchoid habitus, diabetes mellitus type 1, and epilepsy. There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome | |
| fr | Syndrome de déficience intellectuelle-dysmorphie-hypogonadisme-diabète sucré | |
| de | Intelligenzminderung-Dysmorphien-Hypogonadismus-Diabetes mellitus-Syndrom | |
| es | Síndrome de discapacidad intelectual-dismorfia-hipogonadismo-diabetes mellitus | |
| it | Sindrome disabilità intellettiva-dismorfismi-ipogonadismo-diabete mellito | |
| nl | Intellectuele achterstand - dysmorfie - hypogonadisme - diabetes mellitus-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfia-hipogonadismo-diabetes mellitus | |
| pl | Niepełnosprawność intelektualna - dysmorfia - hipogonadyzm - cukrzyca | |
| cs | Syndrom zahrnující mentální retardaci, dysmorfismus, hypogonadismus a diabetes mellitus | |
| uk | Синдром інтелектуальної недостатності-дисморфізму-гіпогонадизму-цукрового діабету | |
| zh | 智力障碍-畸形-性腺功能减退--糖尿病综合征 | |
| tr | Zihinsel yetersizlik-dismorfizm-hipogonadizm-diabetes mellitus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249599 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0009581 | E | validated | |
| MeSH | C537447 | E | validated | |
| UMLS | C1855303 | E | validated | |
| GARD | 9811 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:181371Rare diabetes mellitus type 1
rare endocrine diseases - ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders - ORPHA:183625Rare genetic diabetes mellitus
rare genetic 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 | 4 cases | Worldwide | Case(s) | Validated | 2107046[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2107046[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
22 annotations · validated 2019-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003191 | Cleft ala nasi | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0003782 | Eunuchoid habitus | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000276 | Long face | |
| HP:0000303 | Mandibular prognathia | |
| HP:0012809 | Narrow nasal base | |
| HP:0002225 | Sparse pubic hair | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0100783 | Breast aplasia | |
| HP:0008947 | Floppy infant | |
| Occasional (29-5%) | ||
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0008988 | Pelvic girdle muscle atrophy | |
Annotation source: 2107046[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3044
- This record as JSON: /data/d/3044.json