Neonatal diabetes mellitus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
NDM |
| Number of Symptoms | 5 |
| OrphanetNr: | 224 |
| OMIM Id: |
|
| ICD-10: |
P70.2 |
| UMLs: |
C0158981 |
| MeSH: |
|
| MedDRA: |
10028933 |
| Snomed: |
49817004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 0.2 [Orphanet] |
| Inheritance: |
Autosomal recessive Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Rare diabetes mellitus -Rare endocrine disease Rare genetic diabetes mellitus -Rare genetic disease |
Comment:
| Neonatal diabetes mellitus (NNDM) is a rare disorder with a reported incidence of 1 in 260 000 live births in European population (PMID:23869298). Neonatal diabetes is a form of monogenic diabetes caused by mutations in KCNJ11, ABCC8, IDDM2, PTF1A, or FOXP3 (PMID:21127150). |
Symptom Information:
|
|
(HPO:0000857) | Neonatal insulin-dependent diabetes mellitus | hallmark | 23869298 | IBIS | 7 / 7739 | |
|
|
(HPO:0001531) | Failure to thrive in infancy | hallmark | 23869298 | IBIS | 26 / 7739 | |
|
|
(HPO:0003074) | Hyperglycemia | hallmark | 23869298 | IBIS | 37 / 7739 | |
|
|
(HPO:0001944) | Dehydration | 23869298 | IBIS | 59 / 7739 | ||
|
|
(HPO:0100806) | Sepsis | 23869298 | IBIS | 48 / 7739 |
Associated genes:
| KCNJ11; ABCC8; IDDM2; PTF1A; FOXP3; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|