Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome | |
| fr | Syndrome de microcéphalie primaire-épilepsie-diabète néonatal permanent | |
| de | Primäre Mikrozephalie-Epilepsie-permanenter neonataler Diabetes-Syndrom | |
| es | Síndrome de microcefalia primaria-epilepsia-diabetes neonatal permanente | |
| it | Sindrome da microcefalia primitiva, epilessia, diabete neonatale permanente | |
| nl | Primaire microcefalie - epilepsie - permanente neonatale diabetes-syndroom | |
| pt | Síndrome de microcefalia primária epilepsia diabetes neonatal permanente | |
| pl | Zespół małogłowie pierwotne - padaczka - utrwalona cukrzyca noworodków | |
| cs | Syndrom zahrnující primární mikrocefalii, epilepsii a permanentní neonatální diabetes | |
| uk | Синдром первинної мікроцефалії-епілепсії-перманентного неонатального діабету | |
| zh | 原发性小头性癫痫-永久性新生儿糖尿病综合征 | |
| tr | Primer mikrosefali-epilepsi-kalıcı yenidoğan diyabet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614231 | BTNT | validated | |
| OMIM | 619278 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 8A60.9 | NTBT | attributed | validated |
| UMLS | C5190632 | 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:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IER3IP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18550 | ENSG00000134049 | 609382 | 18q21.1 | immediate early response 3 interacting protein 1 | 21835305[PMID] |
| YIPF5 | Disease-causing germline mutation(s) in | Assessed | HGNC:24877 | ENSG00000145817 | 611483 | 5q31.3 | Yip1 domain family member 5 | 33164987[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28711742[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28711742[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/306558
- This record as JSON: /data/d/306558.json