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TNDM1
MCID: DBT064
MIFTS: 31
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Diabetes Mellitus, Transient Neonatal, 1 (TNDM1)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Diabetes Mellitus, Transient Neonatal, 1:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant (loss of maternal allele)
Miscellaneous:
imprinted disorder usual resolution within 6 months insulin therapy usually required HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Endocrine diseases |
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OMIM® :
57
Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (see PNDM1, 606176). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).
The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene (603044; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features.
(601410) (Updated 05-Mar-2021)
MalaCards based summary : Diabetes Mellitus, Transient Neonatal, 1, also known as 6q24-related diabetes mellitus, is related to diabetes mellitus, 6q24-related transient neonatal and transient neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Transient Neonatal, 1 is ZFP57 (ZFP57 Zinc Finger Protein). Related phenotypes are dehydration and intrauterine growth retardation UniProtKB/Swiss-Prot : 73 Diabetes mellitus, transient neonatal, 1: An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. |
Human phenotypes related to Diabetes Mellitus, Transient Neonatal, 1:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:601410 (Updated 05-Mar-2021) |
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Articles related to Diabetes Mellitus, Transient Neonatal, 1:(show all 29)
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Genes related to Diabetes Mellitus, Transient Neonatal, 1 (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:6 (show all 35)
UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Transient Neonatal, 1:73
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Search
GEO
for disease gene expression data for Diabetes Mellitus, Transient Neonatal, 1.
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Molecular functions related to Diabetes Mellitus, Transient Neonatal, 1 according to GeneCards Suite gene sharing:
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