Transient neonatal diabetes mellitus
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TNDM |
| Number of Symptoms | 6 |
| OrphanetNr: | 99886 |
| OMIM Id: |
601410
610374 610582 |
| ICD-10: |
P70.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive Autosomal dominant [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Neonatal diabetes mellitus -AARSKOG SYNDROME, AUTOSOMAL DOMINANT -Rare endocrine disease -Rare genetic disease |
Comment:
| Transient neonatal diabetes mellitus (TNDM) results from a developmental defect in β‐cell maturation which resolves spontaneously during the postnatal period. It manifests as insulin requiring hyperglycemia within the first week of life. Affected babies are generally growth retarded as insulin is a major foetal growth factor.Infants born with TNDM harbour a greater risk of developing type 2 diabetes later in the life (PMID:23869298). Two third of cases of TNDM results from an imprinting defect on chromosome 6q24. In the normal foetus only 1 allele of chromosome 6q24 is expressed and this is of paternal origin; the maternal allele being silenced by methylation. Heterozygous mutations in HNF‐1β gene have been shown to result in TNDM though the typical presentation is later in the young adult as MODY5 (PMID:23869298). |
Symptom Information:
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(HPO:0000857) | Neonatal insulin-dependent diabetes mellitus | hallmark | 23869298 | IBIS | 7 / 7739 | |
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(HPO:0001531) | Failure to thrive in infancy | hallmark | 23869298 | IBIS | 26 / 7739 | |
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(HPO:0001944) | Dehydration | 23869298 | IBIS | 59 / 7739 | ||
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(HPO:0001993) | Ketoacidosis | rare | 23869298 | IBIS | 17 / 7739 | |
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(HPO:0003074) | Hyperglycemia | hallmark | 23869298 | IBIS | 37 / 7739 | |
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(HPO:0100806) | Sepsis | 23869298 | IBIS | 48 / 7739 |
Associated genes:
| ABCC8; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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