DEND syndrome
Synonyms: Developmental delay-epilepsy-neonatal diabetes syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare form of neonatal diabetes mellitus characterized by a triad of Developmental delay, Epilepsy, and Neonatal Diabetes (DEND syndrome), with a generally severe course. This form of neonatal diabetes is not associated with abnormal pancreatic development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | DEND syndrome | Developmental delay-epilepsy-neonatal diabetes syndrome |
| fr | Syndrome DEND | Syndrome de retard de développement-épilepsie-diabète néonatal |
| de | DEND-Syndrom | Entwicklungsverzögerung-Epilepsie-neonataler Diabetes-Syndrom |
| es | Síndrome DEND | Síndrome de retraso del crecimiento-epilepsia-diabetes neonatal |
| it | Sindrome DEND | Sindrome ritardo dello sviluppo-epilessia-diabete neonatale |
| nl | DEND-syndroom | Ontwikkelingsachterstand - epilepsie - neonatale diabetes-syndroom |
| pt | Síndrome DEND | Síndrome de perturbação do desenvolvimento-epilepsia-diabetes neonatal |
| pl | Zespół DEND | Zespół opóźnienia w rozwoju, padaczki i cukrzycy noworodków |
| cs | DEND syndrom | Syndrom zahrnující opoždění vývoje, epilepsii a neonatální diabetes |
| uk | Синдром DEND | Синдром затримки розвитку - епілепсії - неонатального діабету |
| zh | DEND综合征 | 发育迟缓-癫痫-新生儿糖尿病综合征 |
| tr | DEND sendromu | Gelişme geriliği-epilepsi-yenidoğan diyabet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606176 | NTBT | validated | |
| ICD-10 | P70.2 | NTBT | attributed | validated |
| ICD-11 | KB60.2Y | NTBT | index | validated |
| MONDO | 0019207 | E | validated | |
| UMLS | C4303593 | 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 (2):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:224Neonatal diabetes mellitus
rare genetic diseases; rare endocrine diseases
No children.
Genes
3 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 | 22498247[PMID]_17652641[PMID]_22145471[PMID]_23382304[PMID]_24150202[PMID]_24912436[PMID] |
| ABCC8 | Disease-causing germline mutation(s) in | Assessed | HGNC:59 | ENSG00000006071 | 600509 | 11p15.1 | ATP binding cassette subfamily C member 8 | 22498247[PMID]_21109997[PMID] |
| NARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:26274 | ENSG00000137513 | 612803 | 11q14.1 | asparaginyl-tRNA synthetase 2, mitochondrial | 35703918[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 16670688[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
19 annotations · validated 2017-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003074 | Hyperglycemia | |
| Very frequent (99-80%) | ||
| HP:0040217 | Elevated hemoglobin A1c | |
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001324 | Muscle weakness | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0001488 | Bilateral ptosis | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0001944 | Dehydration | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0000343 | Long philtrum | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0003196 | Short nose | |
| HP:0009894 | Thickened ears | |
| HP:0002013 | Vomiting | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 16670688[PMID]_15448107[PMID]_17259376[PMID]_15115830[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79134
- This record as JSON: /data/d/79134.json