ORPHA:99989
Intermediate DEND syndrome
Synonyms: Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate DEND syndrome | Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form |
| fr | Syndrome DEND intermédiaire | Syndrome de retard de développement-épilepsie-diabète néonatal, forme intermédiaire |
| de | Intermediäres DEND-Syndrom | Entwicklungsverzögerung-Epilepsie-neonataler Diabetes-Syndrom, intermediäre Form |
| es | Síndrome intermedio DEND | Síndrome de retraso del crecimiento-epilepsia-diabetes neonatal, forma intermedia |
| it | Sindrome DEND intermedia | Sindrome ritardo dello sviluppo-epilessia-diabete neonatale, forma intermedia |
| nl | Intermediair DEND-syndroom | Ontwikkelingsachterstand - epilepsie - neonatale diabetes-syndroom, intermediaire vorm |
| pt | Síndrome DEND intermédio | |
| pl | Pośredni zespół DEND | Zespół opóźnienia w rozwoju, padaczki i cukrzycy noworodków, postać pośrednia |
| cs | Středně závažný DEND syndrom | Středně závažná forma syndromu zahrnujícího opožděný vývoj, epilepsii a novorozenecký diabetes |
| uk | Помірно виражений синдром DEND | Синдром затримки розвитку-епілепсія-неонатальний діабет, проміжна форма |
| zh | 中度DEND综合征 | 中间型发育迟缓-癫痫-新生儿糖尿病综合征 |
| tr | Orta düzey DEND sendromu | Gelişme geriliği-epilepsi-yenidoğan diyabet sendromu, ara form |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P70.2 | NTBT | attributed | validated |
| ICD-11 | KB60.2Y | NTBT | attributed | validated |
| MONDO | 0020569 | E | validated | |
| UMLS | C5680423 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:224Neonatal diabetes mellitus
rare genetic diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNJ11 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6257 | ENSG00000187486 | 600937 | 11p15.1 | potassium inwardly rectifying channel subfamily J member 11 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99989
- This record as JSON: /data/d/99989.json