Microcephalic primordial dwarfism-insulin resistance syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephalic primordial dwarfism-insulin resistance syndrome | |
| fr | Syndrome de nanisme microcéphalique primordial-résistance à l'insuline | |
| de | Mikrozephaler primordialer Kleinwuchs-Insulinresistenz-Syndrom | |
| es | Síndrome de talla baja significativa primordial microcefálica-resistencia a la insulina | Síndrome de enanismo primordial microcefálico-resistencia a la insulina |
| it | Sindrome nanismo primordiale microcefalico-resistenza all'insulina | |
| nl | Microcefale primordiale dwerggroei - insulineresistentie-syndroom | |
| pt | Síndrome de nanismo primordial microcefálico-resistência à insulina | |
| pl | Zespół pierwotnej niskorosłości mikrocefalicznej i oporności na insulinę | |
| cs | Syndrom zahrnující primordiální trpaslictví, mikrocefalii a inzulinovou rezistenci | |
| uk | Синдром мікроцефальної первинної карликовості-інсулінорезистентності | |
| zh | 小头原发性侏儒症-胰岛素抵抗综合征 | |
| tr | Mikrosefalik primordiyal cücelik-insülin direnci sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616541 | BTNT | validated | |
| OMIM | 617253 | BTNT | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | attributed | validated |
| MONDO | 0018575 | E | validated | |
| UMLS | C5681181 | 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 (4):
- ORPHA:324761Microcephalic primordial dwarfism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:485382Rare genetic premature ovarian failure
rare genetic diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases - ORPHA:95710Rare non-acquired premature ovarian failure
rare endocrine diseases; rare gynecological and obstetric diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NSMCE2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:26513 | ENSG00000156831 | 617246 | 8q24.13 | NSE2 SUMO ligase component of SMC5/6 complex | 25105364[PMID] |
| XRCC4 | Disease-causing germline mutation(s) in | Assessed | HGNC:12831 | ENSG00000152422 | 194363 | 5q14.2 | X-ray repair cross complementing 4 | 25728776[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 25105364 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25105364[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
9 annotations · validated 2016-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001397 | Hepatic steatosis | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0010620 | Malar prominence | |
| HP:0000347 | Micrognathia | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0008890 | Severe short-limb dwarfism | |
| Occasional (29-5%) | ||
| HP:0007875 | Congenital blindness | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 25105364[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436182
- This record as JSON: /data/d/436182.json