MCID: ISL161
MIFTS: 34

Isolated Permanent Neonatal Diabetes Mellitus

Categories: Endocrine diseases, Rare diseases
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Aliases & Classifications for Isolated Permanent Neonatal Diabetes Mellitus

MalaCards integrated aliases for Isolated Permanent Neonatal Diabetes Mellitus:

Name: Isolated Permanent Neonatal Diabetes Mellitus 58
Monogenic Diabetes of Infancy 58
Isolated Pndm 58

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/1000000 (Europe, Europe, United Kingdom, Poland, Netherlands, Slovakia, United States) 1-5/10000 (Oman) 58

Age Of Onset:

Antenatal,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Isolated Permanent Neonatal Diabetes Mellitus

Orphanet: 58 Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

MalaCards based summary: Isolated Permanent Neonatal Diabetes Mellitus, also known as monogenic diabetes of infancy, is related to monogenic diabetes and neonatal diabetes. An important gene associated with Isolated Permanent Neonatal Diabetes Mellitus is ABCC8 (ATP Binding Cassette Subfamily C Member 8), and among its related pathways/superpathways are Integration of energy metabolism and Disorders of transmembrane transporters. Affiliated tissues include heart, and related phenotypes are failure to thrive and dehydration

Related Diseases for Isolated Permanent Neonatal Diabetes Mellitus

Diseases related to Isolated Permanent Neonatal Diabetes Mellitus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 monogenic diabetes 29.3 KCNJ11 INS GCK ABCC8
2 neonatal diabetes 28.7 PDX1 KCNJ11 INS GCK ABCC8
3 hyperinsulinemic hypoglycemia, familial, 3 10.1 GCK ABCC8
4 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
5 fanconi-bickel syndrome 10.0 INS ABCC8
6 newborn respiratory distress syndrome 10.0 INS ABCC8
7 cardiomyopathy, dilated, 1o 10.0 KCNJ11 ABCC8
8 hypoglycemia, leucine-induced 10.0 KCNJ11 ABCC8
9 donohue syndrome 10.0 INS GCK
10 coronary artery vasospasm 9.9 KCNJ11 ABCC8
11 hyperinsulinemic hypoglycemia, familial, 1 9.9 KCNJ11 ABCC8
12 cantu syndrome 9.9 KCNJ11 ABCC8
13 type 1 diabetes mellitus 12 9.9 KCNJ11 INS
14 abdominal obesity-metabolic syndrome 1 9.9 INS GCK
15 umbilical hernia 9.9 KCNJ11 ABCC8
16 polyhydramnios 9.8 INS ABCC8
17 diabetes mellitus, ketosis-prone 9.8 KCNJ11 INS
18 type 1 diabetes mellitus 6 9.8 PDX1 INS
19 gastrointestinal system benign neoplasm 9.8 STAT3 INS
20 hypokalemic periodic paralysis, type 1 9.8 KCNJ11 INS
21 intestinal atresia 9.8 PDX1 GCK
22 munchausen by proxy 9.8 KCNJ11 GCK ABCC8
23 maturity-onset diabetes of the young, type 14 9.8 KCNJ11 GCK ABCC8
24 hyperinsulinemic hypoglycemia, familial, 7 9.8 KCNJ11 GCK ABCC8
25 hyperinsulinemic hypoglycemia, familial, 6 9.8 KCNJ11 GCK ABCC8
26 fetal erythroblastosis 9.7 KCNJ11 INS ABCC8
27 autoimmune disease of gastrointestinal tract 9.7 STAT3 INS
28 asphyxia neonatorum 9.7 KCNJ11 INS ABCC8
29 hyperinsulinemic hypoglycemia, familial, 2 9.7 KCNJ11 INS ABCC8
30 wolfram syndrome 1 9.7 KCNJ11 INS ABCC8
31 patent ductus arteriosus 1 9.7 KCNJ11 INS ABCC8
32 hypertrichosis 9.7 KCNJ11 INS ABCC8
33 beckwith-wiedemann syndrome 9.7 KCNJ11 INS ABCC8
34 familial hyperlipidemia 9.7 INS GCK
35 type 1 diabetes mellitus 9.6 PDX1 INS GCK
36 factitious disorder 9.5 KCNJ11 INS GCK ABCC8
37 hypoglycemia 9.5 KCNJ11 INS GCK ABCC8
38 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.5 KCNJ11 INS GCK ABCC8
39 wolfram syndrome 9.5 KCNJ11 INS GCK ABCC8
40 prediabetes syndrome 9.5 KCNJ11 INS GCK ABCC8
41 glucose intolerance 9.5 KCNJ11 INS GCK ABCC8
42 hyperinsulinism 9.5 KCNJ11 INS GCK ABCC8
43 pancreatic cystadenoma 9.4 PDX1 INS GCK ABCC8
44 maturity-onset diabetes of the young, type 11 9.4 PDX1 KCNJ11 GCK ABCC8
45 maturity-onset diabetes of the young, type 13 9.4 PDX1 KCNJ11 GCK ABCC8
46 maturity-onset diabetes of the young, type 9 9.4 PDX1 KCNJ11 GCK ABCC8
47 maturity-onset diabetes of the young, type 7 9.4 PDX1 KCNJ11 GCK ABCC8
48 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.4 PDX1 KCNJ11 GCK ABCC8
49 maturity-onset diabetes of the young, type 6 9.4 PDX1 KCNJ11 GCK ABCC8
50 renal cysts and diabetes syndrome 9.4 PDX1 KCNJ11 GCK ABCC8

Graphical network of the top 20 diseases related to Isolated Permanent Neonatal Diabetes Mellitus:



Diseases related to Isolated Permanent Neonatal Diabetes Mellitus

Symptoms & Phenotypes for Isolated Permanent Neonatal Diabetes Mellitus

Human phenotypes related to Isolated Permanent Neonatal Diabetes Mellitus:

58 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001508
2 dehydration 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001944
3 weight loss 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001824
4 neonatal insulin-dependent diabetes mellitus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000857
5 hypovolemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011106
6 hyperglycemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003074
7 glycosuria 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003076
8 reduced pancreatic beta cells 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006274
9 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
10 retinopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000488
11 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
12 motor delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001270
13 downturned corners of mouth 58 30 Frequent (33%) Frequent (79-30%)
HP:0002714
14 arthrogryposis multiplex congenita 58 30 Frequent (33%) Frequent (79-30%)
HP:0002804
15 prominent metopic ridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0005487
16 bilateral tonic-clonic seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002069
17 abnormal heart morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001627
18 ketonuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0002919
19 bilateral ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001488
20 generalized myoclonic seizure 30 Frequent (33%) HP:0002123
21 lower-limb joint contracture 30 Frequent (33%) HP:0005750
22 moderate albuminuria 30 Frequent (33%) HP:0012594
23 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
24 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
25 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
26 renal tubular dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000124
27 intellectual disability, severe 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010864
28 coma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001259
29 peripheral axonal neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003477
30 apraxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002186
31 pancreatic hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002594
32 intellectual disability 58 Frequent (79-30%)
33 neurodevelopmental delay 58 Frequent (79-30%)
34 generalized myoclonic seizures 58 Frequent (79-30%)
35 abnormality of the upper urinary tract 58 Occasional (29-5%)
36 autoimmune antibody positivity 58 Excluded (0%)
37 contractures of the joints of the lower limbs 58 Frequent (79-30%)
38 microalbuminuria 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Isolated Permanent Neonatal Diabetes Mellitus:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.56 ABCC8 INS KCNJ11 PDX1
2 liver/biliary system MP:0005370 9.46 GCK INS PDX1 STAT3
3 growth/size/body region MP:0005378 9.43 ABCC8 GCK INS KCNJ11 PDX1 STAT3
4 endocrine/exocrine gland MP:0005379 9.1 ABCC8 GCK INS KCNJ11 PDX1 STAT3

Drugs & Therapeutics for Isolated Permanent Neonatal Diabetes Mellitus

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

Genetic Tests for Isolated Permanent Neonatal Diabetes Mellitus

Anatomical Context for Isolated Permanent Neonatal Diabetes Mellitus

Organs/tissues related to Isolated Permanent Neonatal Diabetes Mellitus:

MalaCards : Heart

Publications for Isolated Permanent Neonatal Diabetes Mellitus

Articles related to Isolated Permanent Neonatal Diabetes Mellitus:

# Title Authors PMID Year
1
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt. 62
35114785 2022
2
Molecular and clinical features of KATP -channel neonatal diabetes mellitus in Japan. 62
27681997 2017
3
STUDY OF KCNJ11 GENE MUTATIONS IN ASSOCIATION WITH MONOGENIC DIABETES OF INFANCY AND RESPONSE TO SULFONYLUREA TREATMENT IN A COHORT STUDY IN EGYPT. 62
31149081 2016
4
Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. 62
22060631 2012
5
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. 62
22498247 2012
6
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. 62
22768671 2012
7
Permanent diabetes during the first year of life: multiple gene screening in 54 patients. 62
21544516 2011
8
Diagnosis of neonatal and infancy-onset diabetes. 62
17986829 2007

Variations for Isolated Permanent Neonatal Diabetes Mellitus

Expression for Isolated Permanent Neonatal Diabetes Mellitus

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

Pathways for Isolated Permanent Neonatal Diabetes Mellitus

Pathways related to Isolated Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 KCNJ11 INS ABCC8
2
Show member pathways
12.05 KCNJ11 GCK ABCC8
3 11.62 STAT3 PDX1 INS
4
Show member pathways
11.53 PDX1 INS GCK
5
Show member pathways
11.29 PDX1 INS GCK
6 11.26 KCNJ11 ABCC8
7 11.23 KCNJ11 ABCC8
8 11.16 STAT3 INS
9
Show member pathways
11.13 STAT3 INS
10
Show member pathways
10.99 PDX1 KCNJ11 INS GCK ABCC8
11
Show member pathways
10.85 STAT3 INS
12 10.71 PDX1 KCNJ11
13 10.47 PDX1 KCNJ11 INS GCK ABCC8

GO Terms for Isolated Permanent Neonatal Diabetes Mellitus

Cellular components related to Isolated Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inward rectifying potassium channel GO:0008282 8.92 KCNJ11 ABCC8

Biological processes related to Isolated Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to xenobiotic stimulus GO:0009410 9.97 PDX1 KCNJ11 ABCC8
2 positive regulation of insulin secretion GO:0032024 9.84 PDX1 GCK
3 regulation of insulin secretion GO:0050796 9.83 KCNJ11 GCK
4 potassium ion import across plasma membrane GO:1990573 9.81 KCNJ11 ABCC8
5 negative regulation of insulin secretion GO:0046676 9.78 KCNJ11 ABCC8
6 cellular glucose homeostasis GO:0001678 9.76 GCK ABCC8
7 inorganic cation transmembrane transport GO:0098662 9.73 KCNJ11 ABCC8
8 negative regulation of gluconeogenesis GO:0045721 9.71 INS GCK
9 positive regulation of glycogen biosynthetic process GO:0045725 9.67 GCK INS
10 cellular response to leptin stimulus GO:0044320 9.62 STAT3 GCK
11 detection of glucose GO:0051594 9.56 PDX1 GCK
12 glucose homeostasis GO:0042593 9.56 STAT3 PDX1 INS GCK
13 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0035774 9.46 PDX1 KCNJ11 ABCC8
14 glucose metabolic process GO:0006006 9.23 PDX1 KCNJ11 INS GCK

Molecular functions related to Isolated Permanent Neonatal Diabetes Mellitus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase-coupled monoatomic cation transmembrane transporter activity GO:0019829 9.26 KCNJ11 ABCC8
2 ATP-activated inward rectifier potassium channel activity GO:0015272 8.92 KCNJ11 ABCC8

Sources for Isolated Permanent Neonatal Diabetes Mellitus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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