PNDM2
MCID: DBT101
MIFTS: 17

Diabetes Mellitus, Permanent Neonatal 2 (PNDM2)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal 2

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal 2:

Name: Diabetes Mellitus, Permanent Neonatal 2 56 6
Diabetes, Permanent Neonatal 2, with or Without Neurologic Features 56
Pndm2 56

Classifications:



External Ids:

OMIM 56 618856

Summaries for Diabetes Mellitus, Permanent Neonatal 2

OMIM : 56 Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy (Gloyn et al., 2004). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND (Shimomura et al., 2007). Proks et al. (2006) stated that heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176). (618856)

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal 2, is also known as diabetes, permanent neonatal 2, with or without neurologic features. An important gene associated with Diabetes Mellitus, Permanent Neonatal 2 is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11). Affiliated tissues include brain and pancreas.

Related Diseases for Diabetes Mellitus, Permanent Neonatal 2

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal 2

Clinical features from OMIM:

618856

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal 2

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal 2

Genetic Tests for Diabetes Mellitus, Permanent Neonatal 2

Anatomical Context for Diabetes Mellitus, Permanent Neonatal 2

MalaCards organs/tissues related to Diabetes Mellitus, Permanent Neonatal 2:

40
Brain, Pancreas

Publications for Diabetes Mellitus, Permanent Neonatal 2

Articles related to Diabetes Mellitus, Permanent Neonatal 2:

(show all 19)
# Title Authors PMID Year
1
Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. 56 6
20022885 2010
2
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. 56 6
17652641 2007
3
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. 56 6
16670688 2006
4
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 6 56
15580558 2005
5
ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes. 56
27555491 2017
6
Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls. 56
27223594 2016
7
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. 6
18073297 2008
8
Molecular basis of neonatal diabetes in Japanese patients. 56
17635943 2007
9
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. 56
17327377 2007
10
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. 56
17213273 2007
11
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. 56
16885550 2006
12
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. 56
16613899 2006
13
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. 6
16609879 2006
14
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation. 6
16205880 2005
15
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. 6
15583126 2004
16
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. 56
15531505 2004
17
Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. 6
15292329 2004
18
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. 56
15115830 2004
19
Molecular basis for Kir6.2 channel inhibition by adenine nucleotides. 6
12524280 2003

Variations for Diabetes Mellitus, Permanent Neonatal 2

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal 2:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ11 NM_000525.3(KCNJ11):c.602G>A (p.Arg201His)SNV Pathogenic 8666 rs80356624 11:17409037-17409037 11:17387490-17387490
2 KCNJ11 NM_000525.3(KCNJ11):c.175G>A (p.Val59Met)SNV Pathogenic 8667 rs80356616 11:17409464-17409464 11:17387917-17387917
3 KCNJ11 NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys)SNV Pathogenic 8668 rs80356625 11:17409038-17409038 11:17387491-17387491
4 KCNJ11 NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly)SNV Pathogenic 8669 rs80356617 11:17409463-17409463 11:17387916-17387916
5 KCNJ11 NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro)SNV Pathogenic 8670 rs80356611 11:17409490-17409490 11:17387943-17387943
6 KCNJ11 NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg)SNV Pathogenic 8671 rs80356621 11:17409130-17409130 11:17387583-17387583
7 KCNJ11 NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn)SNV Pathogenic 8672 rs80356622 11:17409129-17409129 11:17387582-17387582
8 KCNJ11 NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe)SNV Pathogenic 8679 rs80356618 11:17409142-17409142 11:17387595-17387595
9 KCNJ11 NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu)SNV Pathogenic 8680 rs80356620 11:17409140-17409140 11:17387593-17387593
10 KCNJ11 NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp)SNV Pathogenic 8685 rs80356615 11:17409481-17409481 11:17387934-17387934
11 KCNJ11 NM_001166290.2(KCNJ11):c.-16-67T>ASNV Pathogenic 30135 rs387906783 11:17409460-17409460 11:17387913-17387913

Expression for Diabetes Mellitus, Permanent Neonatal 2

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal 2.

Pathways for Diabetes Mellitus, Permanent Neonatal 2

GO Terms for Diabetes Mellitus, Permanent Neonatal 2

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