Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Synonyms: Pancreatic and cerebellar agenesis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome | Pancreatic and cerebellar agenesis |
| fr | Syndrome de diabète sucré néonatal permanent-agénésie du cervelet et du pancréas | Agénésie du cervelet et du pancréas |
| de | Permanenter neonataler Diabetes mellitus mit Pankreas- und Kleinhirn-Agenesie | Pankreas- und Kleinhirnagenesie |
| es | Síndrome de diabetes mellitus neonatal permanente-agenesia pancreática y cerebelosa | |
| it | Diabete mellito neonatale permanente - agenesia pancreatica e cerebellare | Agenesia pancreatica e cerebellare |
| nl | Permanente neonatale diabetes mellitus - agenesie van pancreas en cerebellum-syndroom | Agenesie van pancreas en cerebellum |
| pt | Síndrome de diabetes mellitus neonatal permanente-agenesia pancreática e cerebelosa | Agenesia pancreática e cerebelosa |
| pl | Utrwalona cukrzyca noworodkowa - agnezja trzustki i móżdżku | Agnezja trzustki i móżdżku |
| cs | Syndrom zahrnující permanentní novorozenecký diabetes mellitus a pankreatickou a cerebelární agenezi | Pankreatická a cerebelární ageneze |
| uk | Синдром перманентного неонатального цукрового діабету-агенезії підшлункової залози та мозочка | Агенезія підшлункової залози та мозочка |
| zh | 永久新生儿糖尿病-胰腺和小脑发育不全综合征 | 胰腺和小脑发育不全 |
| tr | Yenidoğanın kalıcı diabetes mellitusu-pankreas ve serebellar agenezis sendromu | Pankreas ve serebellar agenezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609069 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | KB60.2Y | NTBT | index | validated |
| MONDO | 0012192 | E | validated | |
| MeSH | C563796 | E | validated | |
| UMLS | C1836780 | 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 (3):
- ORPHA:269567Genetic syndrome with a cerebellar malformation as a major feature
rare genetic diseases - ORPHA:224Neonatal diabetes mellitus
rare genetic diseases; rare endocrine diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTF1A | Disease-causing germline mutation(s) in | Assessed | HGNC:23734 | ENSG00000168267 | 607194 | 10p12.2 | pancreas associated transcription factor 1a | 15543146[PMID]_20301317[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24212882[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000369 | Low-set ears | |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000331 | Short chin | |
| HP:0000325 | Triangular face | |
| Frequent (79-30%) | ||
| HP:0100800 | Aplasia/Hypoplasia of the pancreas | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 15543146[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65288
- This record as JSON: /data/d/65288.json