PNDM1
MCID: DBT104
MIFTS: 45

Diabetes Mellitus, Permanent Neonatal, 1 (PNDM1)

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

Aliases & Classifications for Diabetes Mellitus, Permanent Neonatal, 1

MalaCards integrated aliases for Diabetes Mellitus, Permanent Neonatal, 1:

Name: Diabetes Mellitus, Permanent Neonatal, 1 57
Diabetes Mellitus, Permanent Neonatal 1 57 73
Permanent Diabetes Mellitus of Infancy 73 6
Permanent Neonatal Diabetes Mellitus 1 29 6
Dend Syndrome 58 6
Pndm1 57 73
Pdmi 57 73
Diabetes Mellitus Permanent Neonatal with Neurologic Features 73
Developmental Delay-Epilepsy-Neonatal Diabetes Syndrome 58
Developmental Delay Epilepsy and Neonatal Diabetes 73
Diabetes Mellitus, Permanent, of Infancy; Pdmi 57
Diabetes Mellitus, Permanent Neonatal, Type 1 39
Diabetes Mellitus, Permanent, of Infancy 57
Dend 73

Characteristics:

Orphanet epidemiological data:

58
dend syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset as newborn


HPO:

31
diabetes mellitus, permanent neonatal, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases


Summaries for Diabetes Mellitus, Permanent Neonatal, 1

OMIM® : 57 Permanent neonatal diabetes mellitus-1 (PNDM1) is a rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well (Njolstad et al., 2001). PNDM is distinct from transient neonatal diabetes mellitus (TNDM; see 601410) and childhood-onset autoimmune diabetes mellitus type I (IDDM; 222100). (606176) (Updated 05-Mar-2021)

MalaCards based summary : Diabetes Mellitus, Permanent Neonatal, 1, also known as diabetes mellitus, permanent neonatal 1, is related to diabetes mellitus, permanent neonatal, 4 and permanent neonatal diabetes mellitus. An important gene associated with Diabetes Mellitus, Permanent Neonatal, 1 is GCK (Glucokinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Integration of energy metabolism. Related phenotypes are hyperglycemia and elevated hemoglobin a1c

UniProtKB/Swiss-Prot : 73 Diabetes mellitus, permanent neonatal 1: An autosomal recessive 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.

Related Diseases for Diabetes Mellitus, Permanent Neonatal, 1

Diseases in the Permanent Neonatal Diabetes Mellitus family:

Diabetes Mellitus, Permanent Neonatal, 1 Diabetes Mellitus, Permanent Neonatal, 2
Diabetes Mellitus, Permanent Neonatal, 3 Diabetes Mellitus, Permanent Neonatal, 4

Diseases related to Diabetes Mellitus, Permanent Neonatal, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 diabetes mellitus, permanent neonatal, 4 31.0 INS-IGF2 INS
2 permanent neonatal diabetes mellitus 29.6 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
3 neonatal diabetes 29.1 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
4 hypoglycemia 29.0 KCNJ11 INS GCK ABCC8
5 transient neonatal diabetes mellitus 28.9 PDX1 KCNJ11 INS GCK ABCC8
6 hyperglycemia 28.6 PDX1 KCNJ11 INS GCK ABCC8
7 monogenic diabetes 28.4 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
8 diabetes mellitus 28.1 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
9 intermediate dend syndrome 11.1
10 diabetes mellitus, transient neonatal, 1 10.9
11 diabetes mellitus, permanent neonatal, 2 10.9
12 diabetes mellitus, permanent neonatal, 3 10.9
13 epilepsy 10.3
14 diabetes mellitus, transient neonatal, 3 10.2
15 diabetic neuropathy 10.2
16 hypotonia 10.2
17 fructose-1,6-bisphosphatase deficiency 10.1 GCK ABCC8
18 maturity-onset diabetes of the young, type 14 10.0 PDX1 GCK
19 cardiomyopathy, dilated, 1o 10.0 KCNJ11 ABCC8
20 coronary artery vasospasm 10.0 KCNJ11 ABCC8
21 intestinal atresia 10.0 PDX1 GCK
22 cantu syndrome 10.0 KCNJ11 ABCC8
23 west syndrome 10.0
24 aspiration pneumonia 10.0
25 seizure disorder 10.0
26 neonatal dermatomyositis 10.0
27 hyperinsulinemic hypoglycemia, familial, 1 9.9 KCNJ11 ABCC8
28 umbilical hernia 9.9 KCNJ11 ABCC8
29 donohue syndrome 9.9 INS GCK
30 fanconi-bickel syndrome 9.8 INS ABCC8
31 munchausen by proxy 9.8 KCNJ11 GCK ABCC8
32 hyperinsulinemic hypoglycemia, familial, 7 9.8 KCNJ11 GCK ABCC8
33 hyperinsulinemic hypoglycemia, familial, 6 9.8 KCNJ11 GCK ABCC8
34 maturity-onset diabetes of the young, type 11 9.8 PDX1 KCNJ11 ABCC8
35 hyperproinsulinemia 9.8 INS-IGF2 INS
36 wolfram syndrome 1 9.8 KCNJ11 INS
37 wolfram syndrome 9.7 KCNJ11 INS
38 type 1 diabetes mellitus 2 9.7 INS-IGF2 INS
39 carbohydrate metabolic disorder 9.7 INS ABCC8
40 hypokalemic periodic paralysis, type 1 9.7 KCNJ11 INS
41 prediabetes syndrome 9.7 INS GCK
42 abdominal obesity-metabolic syndrome 1 9.6 INS GCK
43 acute insulin response 9.6 KCNJ11 INS ABCC8
44 asphyxia neonatorum 9.6 KCNJ11 INS ABCC8
45 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.6 KCNJ11 INS ABCC8
46 diabetes mellitus, ketosis-prone 9.6 KCNJ11 INS ABCC8
47 hyperinsulinemic hypoglycemia, familial, 2 9.6 KCNJ11 INS ABCC8
48 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 9.6 PDX1 KCNJ11 GCK ABCC8
49 maturity-onset diabetes of the young, type 13 9.6 PDX1 KCNJ11 GCK ABCC8
50 maturity-onset diabetes of the young, type 7 9.6 PDX1 KCNJ11 GCK ABCC8

Graphical network of the top 20 diseases related to Diabetes Mellitus, Permanent Neonatal, 1:



Diseases related to Diabetes Mellitus, Permanent Neonatal, 1

Symptoms & Phenotypes for Diabetes Mellitus, Permanent Neonatal, 1

Human phenotypes related to Diabetes Mellitus, Permanent Neonatal, 1:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperglycemia 58 31 obligate (100%) Obligate (100%) HP:0003074
2 elevated hemoglobin a1c 58 31 hallmark (90%) Very frequent (99-80%) HP:0040217
3 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
4 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
5 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
6 seizure 31 frequent (33%) HP:0001250
7 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
8 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
9 dehydration 58 31 occasional (7.5%) Occasional (29-5%) HP:0001944
10 vomiting 58 31 occasional (7.5%) Occasional (29-5%) HP:0002013
11 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
12 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
13 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
14 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
15 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
16 thickened ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0009894
17 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
18 clinodactyly of the 4th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0040025
19 type i diabetes mellitus 31 very rare (1%) HP:0100651
20 intrauterine growth retardation 31 very rare (1%) HP:0001511
21 small for gestational age 31 very rare (1%) HP:0001518
22 seizures 58 Frequent (79-30%)
23 autoimmune antibody positivity 58 Excluded (0%)
24 reduced c-peptide level 31 HP:0030795

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
intrauterine growth retardation
small for gestational age

Growth Weight:
low birth weight

Laboratory Abnormalities:
hyperglycemia
elevated hemoglobin a1c
low-undetectable basal serum c-peptide
low-undetectable glucagon-stimulated serum c-peptide
normal plasma glucagon
more
Endocrine Features:
neonatal diabetes mellitus

Clinical features from OMIM®:

606176 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Diabetes Mellitus, Permanent Neonatal, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.35 ABCC8 GCK INS KCNJ11 PDX1
2 no phenotypic analysis MP:0003012 8.92 ABCC8 INS KCNJ11 PDX1

Drugs & Therapeutics for Diabetes Mellitus, Permanent Neonatal, 1

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Permanent Neonatal, 1

Genetic Tests for Diabetes Mellitus, Permanent Neonatal, 1

Genetic tests related to Diabetes Mellitus, Permanent Neonatal, 1:

# Genetic test Affiliating Genes
1 Permanent Neonatal Diabetes Mellitus 1 29 GCK

Anatomical Context for Diabetes Mellitus, Permanent Neonatal, 1

Publications for Diabetes Mellitus, Permanent Neonatal, 1

Articles related to Diabetes Mellitus, Permanent Neonatal, 1:

# Title Authors PMID Year
1
Neonatal diabetes mellitus due to complete glucokinase deficiency. 57 6
11372010 2001
2
Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. 57
18571549 2008
3
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. 57
14578306 2003
4
Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. 57
11942315 2002
5
Neonatal diabetes: new insights into aetiology and implications. 57
10895036 2000
6
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. 6
9049484 1997
7
Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus. 6
1502186 1992
8
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. 61
15580558 2005

Variations for Diabetes Mellitus, Permanent Neonatal, 1

ClinVar genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 1:

6 (show top 50) (show all 351)
# 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.601C>T (p.Arg201Cys) SNV Pathogenic 8668 rs80356625 11:17409038-17409038 11:17387491-17387491
3 KCNJ11 NM_000525.3(KCNJ11):c.149G>C (p.Arg50Pro) SNV Pathogenic 8670 rs80356611 11:17409490-17409490 11:17387943-17387943
4 KCNJ11 NM_000525.3(KCNJ11):c.509A>G (p.Lys170Arg) SNV Pathogenic 8671 rs80356621 11:17409130-17409130 11:17387583-17387583
5 KCNJ11 NM_000525.3(KCNJ11):c.510G>C (p.Lys170Asn) SNV Pathogenic 8672 rs80356622 11:17409129-17409129 11:17387582-17387582
6 INS-IGF2 NM_000207.3(INS):c.287G>A (p.Cys96Tyr) SNV Pathogenic 13387 rs80356671 11:2181128-2181128 11:2159898-2159898
7 INS-IGF2 NM_000207.3(INS):c.71C>A (p.Ala24Asp) SNV Pathogenic 13388 rs80356663 11:2182131-2182131 11:2160901-2160901
8 INS-IGF2 NM_000207.3(INS):c.143T>G (p.Phe48Cys) SNV Pathogenic 13389 rs80356668 11:2182059-2182059 11:2160829-2160829
9 GCK NM_000162.5(GCK):c.629T>A (p.Met210Lys) SNV Pathogenic 16141 rs80356654 7:44189409-44189409 7:44149810-44149810
10 GCK NM_000162.5(GCK):c.1019+2T>G SNV Pathogenic 21075 rs193929376 7:44186060-44186060 7:44146461-44146461
11 GCK NM_000162.5(GCK):c.1133C>T (p.Ala378Val) SNV Pathogenic 21076 rs193929374 7:44185216-44185216 7:44145617-44145617
12 GCK NM_000162.5(GCK):c.1190G>T (p.Arg397Leu) SNV Pathogenic 21077 rs193929375 7:44185159-44185159 7:44145560-44145560
13 GCK NM_000162.5(GCK):c.790G>A (p.Gly264Ser) SNV Pathogenic 21078 rs193929373 7:44187322-44187322 7:44147723-44147723
14 INS-IGF2 NM_000207.3(INS):c.127T>G (p.Cys43Gly) SNV Pathogenic 21114 rs80356666 11:2182075-2182075 11:2160845-2160845
15 INS-IGF2 NM_000207.3(INS):c.140G>T (p.Gly47Val) SNV Pathogenic 21115 rs80356667 11:2182062-2182062 11:2160832-2160832
16 INS-IGF2 NM_000207.3(INS):c.265C>T (p.Arg89Cys) SNV Pathogenic 21117 rs80356669 11:2181150-2181150 11:2159920-2159920
17 INS-IGF2 NM_000207.3(INS):c.268G>T (p.Gly90Cys) SNV Pathogenic 21118 rs80356670 11:2181147-2181147 11:2159917-2159917
18 INS-IGF2 NM_000207.3(INS):c.323A>G (p.Tyr108Cys) SNV Pathogenic 21120 rs80356672 11:2181092-2181092 11:2159862-2159862
19 INS-IGF2 NM_000207.3(INS):c.94G>A (p.Gly32Ser) SNV Pathogenic 21122 rs80356664 11:2182108-2182108 11:2160878-2160878
20 INS-IGF2 NM_000207.3(INS):c.94G>C (p.Gly32Arg) SNV Pathogenic 21123 rs80356664 11:2182108-2182108 11:2160878-2160878
21 KCNJ11 NM_000525.3(KCNJ11):c.1001G>A (p.Gly334Asp) SNV Pathogenic 21193 rs193929358 11:17408638-17408638 11:17387091-17387091
22 KCNJ11 NM_000525.3(KCNJ11):c.103T>C (p.Phe35Leu) SNV Pathogenic 21194 rs193929333 11:17409536-17409536 11:17387989-17387989
23 KCNJ11 NM_000525.3(KCNJ11):c.103T>G (p.Phe35Val) SNV Pathogenic 21195 rs193929333 11:17409536-17409536 11:17387989-17387989
24 KCNJ11 NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) SNV Pathogenic 8676 rs80356610 11:17409515-17409515 11:17387968-17387968
25 KCNJ11 NM_000525.3(KCNJ11):c.155A>G (p.Gln52Arg) SNV Pathogenic 21196 rs193929337 11:17409484-17409484 11:17387937-17387937
26 KCNJ11 NM_000525.3(KCNJ11):c.158G>A (p.Gly53Asp) SNV Pathogenic 8685 rs80356615 11:17409481-17409481 11:17387934-17387934
27 KCNJ11 NM_000525.3(KCNJ11):c.176T>G (p.Val59Gly) SNV Pathogenic 8669 rs80356617 11:17409463-17409463 11:17387916-17387916
28 KCNJ11 NM_000525.3(KCNJ11):c.997T>A (p.Phe333Ile) SNV Pathogenic 21205 rs193929357 11:17408642-17408642 11:17387095-17387095
29 KCNJ11 NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) SNV Pathogenic 8667 rs80356616 11:17409464-17409464 11:17387917-17387917
30 INS-IGF2 NM_000207.3(INS):c.*59A>G SNV Pathogenic 65581 rs397515519 11:2181023-2181023 11:2159793-2159793
31 INS-IGF2 NM_000207.3(INS):c.-39A>C SNV Pathogenic 431444 rs1554921033 11:2182419-2182419 11:2161189-2161189
32 INS NM_000207.2(INS):c.-152C>A SNV Pathogenic 431442 rs748749585 11:2182532-2182532 11:2161302-2161302
33 INS NM_000207.2(INS):c.-152C>G SNV Pathogenic 431443 rs748749585 11:2182532-2182532 11:2161302-2161302
34 INS NM_000207.2(INS):c.-187_-164del Deletion Pathogenic 431441 rs1135401727 11:2182544-2182567 11:2161314-2161337
35 INS-IGF2 NM_000207.2(INS):c.(?_-191)_(187_?)+1del Deletion Pathogenic 431440 11:2182014-2182571 11:2160784-2161341
36 INS-IGF2 NM_000207.3(INS):c.3G>A (p.Met1Ile) SNV Pathogenic 65587 rs397515521 11:2182199-2182199 11:2160969-2160969
37 INS-IGF2 NM_000207.3(INS):c.3G>T (p.Met1Ile) SNV Pathogenic 65588 rs397515521 11:2182199-2182199 11:2160969-2160969
38 INS-IGF2 NM_000207.3(INS):c.188-31G>A SNV Pathogenic 211186 rs797045623 11:2181258-2181258 11:2160028-2160028
39 KCNJ11 NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) SNV Pathogenic 21204 rs193929356 11:17408650-17408650 11:17387103-17387103
40 KCNJ11 NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) SNV Pathogenic 21203 rs193929355 11:17408675-17408675 11:17387128-17387128
41 KCNJ11 NM_000525.3(KCNJ11):c.886A>G (p.Ile296Val) SNV Pathogenic 21202 rs193929353 11:17408753-17408753 11:17387206-17387206
42 KCNJ11 NM_000525.3(KCNJ11):c.886A>C (p.Ile296Leu) SNV Pathogenic 21201 rs193929353 11:17408753-17408753 11:17387206-17387206
43 KCNJ11 NM_000525.3(KCNJ11):c.755T>C (p.Val252Ala) SNV Pathogenic 21200 rs193929352 11:17408884-17408884 11:17387337-17387337
44 KCNJ11 NM_000525.3(KCNJ11):c.602G>T (p.Arg201Leu) SNV Pathogenic 21199 rs80356624 11:17409037-17409037 11:17387490-17387490
45 KCNJ11 NM_000525.3(KCNJ11):c.544A>G (p.Ile182Val) SNV Pathogenic 21198 rs193929348 11:17409095-17409095 11:17387548-17387548
46 KCNJ11 NM_000525.3(KCNJ11):c.499A>C (p.Ile167Leu) SNV Pathogenic 8680 rs80356620 11:17409140-17409140 11:17387593-17387593
47 KCNJ11 NM_000525.3(KCNJ11):c.497G>T (p.Cys166Phe) SNV Pathogenic 8679 rs80356618 11:17409142-17409142 11:17387595-17387595
48 KCNJ11 NM_000525.3(KCNJ11):c.497G>A (p.Cys166Tyr) SNV Pathogenic 21197 rs80356618 11:17409142-17409142 11:17387595-17387595
49 KCNJ11 NM_000525.3(KCNJ11):c.368dup (p.Ser124fs) Duplication Pathogenic 522957 rs1554901822 11:17409270-17409271 11:17387723-17387724
50 GCK NM_000162.5(GCK):c.766G>A (p.Glu256Lys) SNV Pathogenic 265175 rs769268803 7:44187346-44187346 7:44147747-44147747

UniProtKB/Swiss-Prot genetic disease variations for Diabetes Mellitus, Permanent Neonatal, 1:

73 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GCK p.Thr228Met VAR_003705 rs80356655
2 GCK p.Gly261Arg VAR_003708 rs104894008
3 GCK p.Leu164Pro VAR_012350
4 GCK p.Met210Lys VAR_012351 rs80356654
5 GCK p.Glu40Lys VAR_079433 rs794727236
6 GCK p.Arg43Cys VAR_079434 rs148628002
7 GCK p.His50Asp VAR_079437
8 GCK p.Gly72Arg VAR_079440 rs193922289
9 GCK p.Ser151Thr VAR_079446
10 GCK p.Thr168Ala VAR_079448
11 GCK p.Lys169Arg VAR_079449
12 GCK p.Met393Thr VAR_079469
13 GCK p.Arg397Leu VAR_079470 rs193929375
14 GCK p.Ser441Leu VAR_079475 rs128680419
15 GCK p.Ala449Thr VAR_079476 rs193922282

Expression for Diabetes Mellitus, Permanent Neonatal, 1

Search GEO for disease gene expression data for Diabetes Mellitus, Permanent Neonatal, 1.

Pathways for Diabetes Mellitus, Permanent Neonatal, 1

Pathways related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 PDX1 KCNJ11 INS GCK ABCC8
2
Show member pathways
11.91 KCNJ11 INS ABCC8
3
Show member pathways
11.59 PDX1 INS GCK
4
Show member pathways
11.52 KCNJ11 ABCC8
5
Show member pathways
11.43 PDX1 INS GCK
6 11.18 KCNJ11 ABCC8
7 11.12 KCNJ11 ABCC8
8
Show member pathways
11.08 PDX1 KCNJ11 INS-IGF2 INS GCK ABCC8
9 11 PDX1 KCNJ11 INS GCK ABCC8

GO Terms for Diabetes Mellitus, Permanent Neonatal, 1

Cellular components related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 8.96 KCNJ11 ABCC8
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.65 PDX1 KCNJ11 ABCC8
2 positive regulation of insulin secretion GO:0032024 9.49 PDX1 GCK
3 negative regulation of insulin secretion GO:0046676 9.46 KCNJ11 ABCC8
4 cellular glucose homeostasis GO:0001678 9.43 GCK ABCC8
5 glucose homeostasis GO:0042593 9.43 PDX1 INS GCK
6 negative regulation of gluconeogenesis GO:0045721 9.4 INS GCK
7 inorganic cation transmembrane transport GO:0098662 9.37 KCNJ11 ABCC8
8 regulation of insulin secretion GO:0050796 9.33 KCNJ11 GCK ABCC8
9 positive regulation of glycogen biosynthetic process GO:0045725 9.32 INS GCK
10 detection of glucose GO:0051594 8.96 PDX1 GCK
11 glucose metabolic process GO:0006006 8.92 PDX1 KCNJ11 INS GCK

Molecular functions related to Diabetes Mellitus, Permanent Neonatal, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.16 INS-IGF2 INS
2 cation-transporting ATPase activity GO:0019829 8.96 KCNJ11 ABCC8
3 ATP-activated inward rectifier potassium channel activity GO:0015272 8.62 KCNJ11 ABCC8

Sources for Diabetes Mellitus, Permanent Neonatal, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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