PNDM3
MCID: DBT106
MIFTS: 24
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Diabetes Mellitus, Permanent Neonatal, 3 (PNDM3)
Categories:
Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal, 3:
Name: Diabetes Mellitus, Permanent Neonatal, 3
57
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
age at diagnosis 1-4 months HPO:31
diabetes mellitus, permanent neonatal, 3:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Endocrine diseases Gastrointestinal diseases Muscle diseases |
UniProtKB/Swiss-Prot :
73
Diabetes mellitus, permanent neonatal 3: A form of permanent neonatal diabetes mellitus, a type of diabetes characterized by onset of persistent hyperglycemia within the first six months of life. Initial clinical manifestations include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Some PNDM3 patients may also have developmental delay, muscle weakness, and epilepsy. PNDM3 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance.
MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, 3, is also known as permanent neonatal diabetes mellitus 3. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 3 is ABCC8 (ATP Binding Cassette Subfamily C Member 8). Related phenotypes are muscle weakness and type i diabetes mellitus OMIM® : 57 Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). (618857) (Updated 05-Mar-2021) |
Diseases in the Permanent Neonatal Diabetes Mellitus family:
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Human phenotypes related to Diabetes Mellitus, Permanent Neonatal, 3:31 (show all 12)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618857 (Updated 05-Mar-2021) |
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Articles related to Diabetes Mellitus, Permanent Neonatal, 3:
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ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 3:6
UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 3:73 (show all 20)
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GEO
for disease gene expression data for Diabetes Mellitus, Permanent Neonatal, 3.
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