Maturity-Onset Diabetes of the Young, Type 1 (MODY1) malady

Genetic diseases, Rare diseases, Endocrine diseases, Liver diseases, Nephrological diseases, Fetal diseases, Neuronal diseases categories
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Summaries for Maturity-Onset Diabetes of the Young, Type 1

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MalaCards based summary: Maturity-Onset Diabetes of the Young, Type 1, also known as type 1 maturity-onset diabetes of the young, is related to hyperinsulinemic hypoglycemia and diabetic ketoacidosis, and has symptoms including An important gene associated with Maturity-Onset Diabetes of the Young, Type 1 is HNF4A (hepatocyte nuclear factor 4, alpha), and among its related pathways are Dichloroethylene metabolism and Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs insulin and insulin, aspart, human and the compounds proglucagon and phosphoenolpyruvate have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and renal/urinary system.

Descriptions from OMIM:46 125850, 125851, 600496, 606391, 606392 606394, 609812, 610508, 612225, 613370, 613375 more

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 1

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42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Maturity-Onset Diabetes of the Young, Type 1, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young, Type 1 42 62
Type 1 Maturity-Onset Diabetes of the Young 42 20 22
Maturity-Onset Diabetes of the Young 48 62
Diabetes Mellitus, Insulin-Dependent 62
Diabetes Mellitus Mody Type 1 42
Mody Hnf4a Related 42
Mody Syndrome 48
Mody, Type I 46
Mody Type 1 42
Mody1 42


Characteristics (Orphanet epidemiological data):

maturity-onset diabetes of the young:
Inheritance: Autosomal dominant; Age of onset: Adulthood

External Ids:

ICD10 via Orphanet26 E11.8

Related Diseases for Maturity-Onset Diabetes of the Young, Type 1

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Diseases in the Maturity-Onset Diabetes of the Young, Type 1 family:

Maturity-Onset Diabetes of the Young Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 5 Maturity-Onset Diabetes of the Young, Type 6
Maturity-Onset Diabetes of the Young, Type 7 Maturity-Onset Diabetes of the Young, Type 8
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 11
Maturity-Onset Diabetes of the Young, Type 10

Diseases related to Maturity-Onset Diabetes of the Young, Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia30.9ABCC8, INS
2diabetic ketoacidosis30.9INS
3type 1 diabetes mellitus30.6HNF1A, INS, HNF4A, GCK
4permanent neonatal diabetes mellitus30.5GCK, ABCC8, INS
5hypoglycemia30.4HNF4A, GCK, ABCC8, KCNJ11, INS
6insulin resistance30.1PAX4, ABCC8, HNF1A, GCK, HNF4A, INS
7hyperinsulinism29.9GCK, ABCC8, KCNJ11, INS
8obesity29.7INS, ABCC8, GCK, KCNJ11, HNF4A, HNF1A
9maturity-onset diabetes of the young29.7HNF1A, NEUROD1, PAX4, HNF4A, INS, PDX1
10gestational diabetes29.6HNF4A, KCNJ11, ABCC8, HNF1A, INS, GCK
11type 2 diabetes mellitus29.2PDX1, GCK, HNF4A, HNF1A, ABCC8, NEUROD1
12hyperglycemia28.8ABCC8, INS, KCNJ11, GCK, PDX1, HNF4A
13diabetes mellitus28.4GCK, PDX1, NEUROD1, PAX4, INS, KCNJ11
14maturity-onset diabetes of the young, type 211.0
15maturity-onset diabetes of the young, type 311.0
16maturity-onset diabetes of the young, type 510.8
17maturity-onset diabetes of the young, type 810.8
18maturity-onset diabetes of the young, type 410.7
19maturity-onset diabetes of the young, type 610.7
20maturity-onset diabetes of the young, type 710.7
21maturity-onset diabetes of the young, type 910.7
23maturity-onset diabetes of the young, type 1110.6
24maturity-onset diabetes of the young, type 1010.6
25pancreatic agenesis10.5PDX1
27maturity-onset diabetes of the young type1010.5
28maturity-onset diabetes of the young type1110.5
29fanconi renotubular syndrome 4, with maturity-onset diabetes of the young10.5
30exocrine pancreatic insufficiency10.3CEL
31colorectal cancer10.3
32diabetic nephropathy10.3
33diabetic retinopathy10.3
34granuloma annulare10.3
35proliferative diabetic retinopathy10.3
36necrobiosis lipoidica10.3
37kidney disease10.3
39transient neonatal diabetes mellitus10.3
40fanconi renotubular syndrome 210.3
42renal dysplasia10.3
43hyperuricemia10.1GCK, INS
44monogenic diabetes10.1
46myeloid leukemia10.1
48diabetes mellitus, noninsulin-dependent10.0HNF4A, ABCC8, NEUROD1
49primary hyperoxaluria9.9HNF4A, HNF1A, INS
50familial hyperinsulinism9.9ABCC8, KCNJ11, GCK

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 1:

Diseases related to maturity-onset diabetes of the young, type 1

Symptoms for Maturity-Onset Diabetes of the Young, Type 1

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:

125850, 125851, 600496, 606391, 606392, 606394, 609812, 610508, 612225, 613370 613375 more

HPO human phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 maturity-onset diabetes of the young HP:0004904

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 1

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Genetic tests related to Maturity-Onset Diabetes of the Young, Type 1:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 120 HNF4A
2 Maturity-Onset Diabetes of the Young, Type 122

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 1

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Animal Models for Maturity-Onset Diabetes of the Young, Type 1 or affiliated genes

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MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 1:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5HNF1A, HNF4A, CEL, INS, PDX1, GCK
2MP:00053678.4INS, NEUROD1, HNF1A, PDX1, GCK
3MP:00028738.3BLK, INS, PAX4, HNF4A, PDX1, KLF11
4MP:00053818.3CEL, NEUROD1, INS, PDX1, HNF1A
5MP:00053758.1KCNJ11, INS, CEL, HNF1A
6MP:00053848.0ZBTB16, INS, PDX1, HNF4A, HNF1A, NEUROD1
7MP:00030127.6ZBTB16, HNF1A, ABCC8, KCNJ11, PDX1, INS
8MP:00107687.1KCNJ11, GCK, PDX1, HNF4A, HNF1A, NEUROD1
9MP:00053786.8PAX4, KCNJ11, INS, CEL, HNF1A, HNF4A
10MP:00053796.5PDX1, GCK, NEUROD1, PAX4, INS, KCNJ11
11MP:00053766.3ZBTB16, ABCC8, NEUROD1, GCK, PDX1, HNF4A

Publications for Maturity-Onset Diabetes of the Young, Type 1

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Articles related to Maturity-Onset Diabetes of the Young, Type 1:

Detection and characterization of two novel mutations in the HNF4A gene in maturity-onset diabetes of the young type 1 in two Japanese families. (23652628)
Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator. (11435618)
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. (10940385)

Variations for Maturity-Onset Diabetes of the Young, Type 1

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UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 1:

6 (show all 167)
id Gene Name Type Significance SNP ID Assembly Location
1BLKNM_001715.2(BLK): c.211G> A (p.Ala71Thr)single nucleotide variantPathogenicrs55758736GRCh37Chr 8, 11405576: 11405576
2BLKBLK, CHR8: 11,459,364, T-Gsingle nucleotide variantPathogenic
3BLKBLK, CHR8: 11,468,050, C-Tsingle nucleotide variantPathogenic
4BLKBLK, CHR8: 11,369,157, G-Asingle nucleotide variantPathogenic
5BLKBLK, CHR8: 11,459,531, G-Tsingle nucleotide variantPathogenic
6NM_000207.2(INS): c.16C> T (p.Arg6Cys)single nucleotide variantPathogenicrs121908278GRCh37Chr 11, 2182186: 2182186
7NM_000207.2(INS): c.137G> A (p.Arg46Gln)single nucleotide variantPathogenicrs121908260GRCh37Chr 11, 2182065: 2182065
8PAX4NM_006193.2(PAX4): c.490C> T (p.Arg164Trp)single nucleotide variantPathogenicrs121917718GRCh37Chr 7, 127253858: 127253858
9PAX4PAX4, IVS7, G-A, -1single nucleotide variantPathogenic
10HNF1ANM_000545.5(HNF1A): c.1340C> T (p.Pro447Leu)single nucleotide variantPathogenicrs137853236GRCh37Chr 12, 121435307: 121435307
11HNF1AHNF1A, 1-BP DELdeletionPathogenic
12HNF1ANM_000545.5(HNF1A): c.365A> G (p.Tyr122Cys)single nucleotide variantPathogenicrs137853237GRCh37Chr 12, 121426674: 121426674
13HNF1AHNF1A, A-C, -58single nucleotide variantPathogenic
14HNF1ANM_000545.5(HNF1A): c.1859C> T (p.Thr620Ile)single nucleotide variantPathogenicrs137853241GRCh37Chr 12, 121438958: 121438958
15HNF1AHNF1A, 1-BP DEL, -119GdeletionPathogenic
16HNF1ANM_000545.5(HNF1A): c.1720G> A (p.Gly574Ser)single nucleotide variantPathogenicrs1169305GRCh37Chr 12, 121437382: 121437382
17HNF1ANM_000545.5(HNF1A): c.1748G> A (p.Arg583Gln)single nucleotide variantLikely pathogenicrs137853242GRCh37Chr 12, 121437410: 121437410
18HNF1AHNF1A, IVS3, G-A, -1single nucleotide variantPathogenic
19HNF1ANM_000545.5(HNF1A): c.335C> T (p.Pro112Leu)single nucleotide variantPathogenicrs137853243GRCh37Chr 12, 121426644: 121426644
20HNF1ANM_000545.5(HNF1A): c.391C> T (p.Arg131Trp)single nucleotide variantPathogenicrs137853244GRCh37Chr 12, 121426700: 121426700
21HNF1AHNF1A, 4-BP DELdeletionPathogenic
22HNF1ANM_000545.5(HNF1A): c.827C> A (p.Ala276Asp)single nucleotide variantPathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
23HNF1AHNF1A, 2-BP DEL, AGdeletionPathogenic
24HNF1ANM_000545.5(HNF1A): c.1592G> C (p.Ser531Thr)single nucleotide variantPathogenicrs137853246GRCh37Chr 12, 121437161: 121437161
25HNF1ANM_000545.5(HNF1A): c.92G> A (p.Gly31Asp)single nucleotide variantPathogenicrs137853247GRCh37Chr 12, 121416663: 121416663
26GCKNM_000162.3(GCK): c.683C> T (p.Thr228Met)single nucleotide variantPathogenicrs80356655GRCh37Chr 7, 44187429: 44187429
27CELCEL, 1-BP DEL, 1686TdeletionPathogenic
28CELCEL, 1-BP DEL, 1785CdeletionPathogenic
29CELNM_001807.4(CEL): c.1785delC (p.Val596Cysfs)deletionLikely pathogenicrs193922638GRCh37Chr 9, 135946665: 135946665
30GCKNM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet)indelLikely pathogenicrs193922252GRCh37Chr 7, 44186078: 44186079
31GCKNM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs)insertionLikely pathogenicrs193922253GRCh37Chr 7, 44186077: 44186078
32GCKNM_000162.3(GCK): c.1003delG (p.Val335Cysfs)deletionLikely pathogenicrs193922254GRCh37Chr 7, 44186078: 44186078
33GCKNM_000162.3(GCK): c.1018A> G (p.Ser340Gly)single nucleotide variantLikely pathogenicrs193922255GRCh37Chr 7, 44186063: 44186063
34GCKNM_000162.3(GCK): c.1020-1G> Csingle nucleotide variantLikely pathogenicrs193922258GRCh37Chr 7, 44185330: 44185330
35GCKNM_000162.3(GCK): c.103A> T (p.Arg35Ter)single nucleotide variantLikely pathogenicrs193922259GRCh37Chr 7, 44193005: 44193005
36GCKNM_000162.3(GCK): c.1042A> T (p.Ile348Phe)single nucleotide variantLikely pathogenicrs193922260GRCh37Chr 7, 44185307: 44185307
37GCKNM_000162.3(GCK): c.107G> C (p.Arg36Pro)single nucleotide variantLikely pathogenicrs193922261GRCh37Chr 7, 44193001: 44193001
38GCKNM_000162.3(GCK): c.1114G> T (p.Glu372Ter)single nucleotide variantLikely pathogenicrs193922262GRCh37Chr 7, 44185235: 44185235
39GCKNM_000162.3(GCK): c.1124C> T (p.Ser375Phe)single nucleotide variantLikely pathogenicrs193922263GRCh37Chr 7, 44185225: 44185225
40GCKNM_000162.3(GCK): c.1130G> A (p.Arg377His)single nucleotide variantLikely pathogenicrs193922264GRCh37Chr 7, 44185219: 44185219
41GCKNM_000162.3(GCK): c.1136C> A (p.Ala379Glu)single nucleotide variantLikely pathogenicrs193922265GRCh37Chr 7, 44185213: 44185213
42GCKNM_000162.3(GCK): c.1142T> G (p.Met381Arg)single nucleotide variantLikely pathogenicrs193922266GRCh37Chr 7, 44185207: 44185207
43GCKNM_000162.3(GCK): c.1153G> A (p.Gly385Arg)single nucleotide variantLikely pathogenicrs193922267GRCh37Chr 7, 44185196: 44185196
44GCKNM_000162.3(GCK): c.1157T> C (p.Leu386Pro)single nucleotide variantLikely pathogenicrs193922268GRCh37Chr 7, 44185192: 44185192
45GCKNM_000162.3(GCK): c.1160C> A (p.Ala387Glu)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
46GCKNM_000162.3(GCK): c.1160C> T (p.Ala387Val)single nucleotide variantLikely pathogenicrs193921338GRCh37Chr 7, 44185189: 44185189
47GCKNM_000162.3(GCK): c.1169T> A (p.Ile390Asn)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
48GCKNM_000162.3(GCK): c.1169T> C (p.Ile390Thr)single nucleotide variantLikely pathogenicrs193921340GRCh37Chr 7, 44185180: 44185180
49GCKNM_000162.3(GCK): c.1175G> T (p.Arg392Leu)single nucleotide variantLikely pathogenicrs193922269GRCh37Chr 7, 44185174: 44185174
50GCKNM_000162.3(GCK): c.1207C> G (p.Arg403Gly)single nucleotide variantLikely pathogenicrs193922271GRCh37Chr 7, 44185142: 44185142
51GCKNM_000162.3(GCK): c.1240A> G (p.Lys414Glu)single nucleotide variantLikely pathogenicrs193922272GRCh37Chr 7, 44185109: 44185109
52GCKNM_000162.3(GCK): c.1268T> A (p.Phe423Tyr)single nucleotide variantLikely pathogenicrs193922273GRCh37Chr 7, 44184865: 44184865
53GCKNM_000162.3(GCK)indelLikely pathogenicrs193922274GRCh37Chr 7, 44184775: 44184854
54GCKNM_000162.3(GCK): c.1283_1284delGC (p.Arg428Glnfs)deletionLikely pathogenicrs193922275GRCh37Chr 7, 44184849: 44184850
55GCKNM_000162.3(GCK): c.1289T> C (p.Leu430Pro)single nucleotide variantLikely pathogenicrs193922277GRCh37Chr 7, 44184844: 44184844
56GCKNM_000162.3(GCK): c.1307T> A (p.Ile436Asn)single nucleotide variantLikely pathogenicrs193922278GRCh37Chr 7, 44184826: 44184826
57GCKNM_000162.3(GCK): c.131G> A (p.Gly44Asp)single nucleotide variantLikely pathogenicrs193922279GRCh37Chr 7, 44192977: 44192977
58GCKNM_000162.3(GCK): c.1332delC (p.Ser445Valfs)deletionLikely pathogenicrs193922280GRCh37Chr 7, 44184801: 44184801
59GCKNM_000162.3(GCK): c.1339C> G (p.Arg447Gly)single nucleotide variantLikely pathogenicrs193922281GRCh37Chr 7, 44184794: 44184794
60GCKNM_000162.3(GCK): c.1345G> A (p.Ala449Thr)single nucleotide variantLikely pathogenicrs193922282GRCh37Chr 7, 44184788: 44184788
61GCKNM_000162.3(GCK): c.1358C> T (p.Ser453Leu)single nucleotide variantLikely pathogenicrs193922283GRCh37Chr 7, 44184775: 44184775
62GCKNM_000162.3(GCK): c.1372_1373delAA (p.Lys458Glufs)deletionLikely pathogenicrs193922284GRCh37Chr 7, 44184760: 44184761
63GCKNM_000162.3(GCK): c.1386G> T (p.Met462Ile)single nucleotide variantLikely pathogenicrs193922285GRCh37Chr 7, 44184747: 44184747
64GCKp.X466Trpsingle nucleotide variantLikely pathogenic
65GCKNM_000162.3(GCK): c.146C> A (p.Thr49Asn)single nucleotide variantLikely pathogenicrs193922286GRCh37Chr 7, 44192962: 44192962
66GCKNM_000162.3(GCK): c.175C> T (p.Pro59Ser)single nucleotide variantLikely pathogenicrs193922287GRCh37Chr 7, 44192933: 44192933
67GCKNM_000162.3(GCK): c.214G> A (p.Gly72Arg)single nucleotide variantPathogenicrs193922289GRCh37Chr 7, 44192019: 44192019
68GCKNM_000162.3(GCK): c.253A> T (p.Arg85Trp)single nucleotide variantLikely pathogenicrs193922290GRCh37Chr 7, 44191980: 44191980
69GCKNM_000162.3(GCK): c.304A> T (p.Lys102Ter)single nucleotide variantLikely pathogenicrs193922291GRCh37Chr 7, 44191929: 44191929
70GCKNM_000162.3(GCK): c.322T> G (p.Tyr108Asp)single nucleotide variantLikely pathogenicrs193922292GRCh37Chr 7, 44191911: 44191911
71GCKNM_000162.3(GCK): c.393delC (p.Asp132Thrfs)deletionLikely pathogenicrs193922295GRCh37Chr 7, 44190645: 44190645
72GCKNM_000162.3(GCK): c.440G> A (p.Gly147Asp)single nucleotide variantLikely pathogenicrs193922296GRCh37Chr 7, 44190598: 44190598
73GCKNM_000162.3(GCK): c.449T> C (p.Phe150Ser)single nucleotide variantLikely pathogenicrs193922297GRCh37Chr 7, 44190589: 44190589
74GCKNM_000162.3(GCK): c.457C> T (p.Pro153Ser)single nucleotide variantLikely pathogenicrs193922300GRCh37Chr 7, 44190581: 44190581
75GCKNM_000162.3(GCK): c.463A> G (p.Arg155Gly)single nucleotide variantLikely pathogenicrs193922301GRCh37Chr 7, 44190575: 44190575
76GCKNM_000162.3(GCK): c.483G> A (p.Lys161=)single nucleotide variantLikely pathogenicrs193922302GRCh37Chr 7, 44190555: 44190555
77GCKNM_000162.3(GCK): c.509G> T (p.Gly170Val)single nucleotide variantLikely pathogenicrs193922303GRCh37Chr 7, 44189638: 44189638
78GCKNM_000162.3(GCK): c.527C> G (p.Ala176Gly)single nucleotide variantLikely pathogenicrs193922304GRCh37Chr 7, 44189620: 44189620
79GCKNM_000162.3(GCK): c.532G> A (p.Gly178Arg)single nucleotide variantLikely pathogenicrs193922305GRCh37Chr 7, 44189615: 44189615
80GCKNM_000162.3(GCK): c.542T> C (p.Val181Ala)single nucleotide variantLikely pathogenicrs193922306GRCh37Chr 7, 44189605: 44189605
81GCKNM_000162.3(GCK): c.563C> T (p.Ala188Val)single nucleotide variantLikely pathogenicrs193922307GRCh37Chr 7, 44189584: 44189584
82GCKNM_000162.3(GCK): c.57C> G (p.Ile19Met)single nucleotide variantLikely pathogenicrs193922308GRCh37Chr 7, 44193051: 44193051
83GCKNM_000162.3(GCK): c.587A> G (p.Glu196Gly)single nucleotide variantLikely pathogenicrs193922309GRCh37Chr 7, 44189451: 44189451
84GCKNM_000162.3(GCK): c.604A> G (p.Met202Val)single nucleotide variantLikely pathogenicrs193922310GRCh37Chr 7, 44189434: 44189434
85GCKNM_000162.3(GCK): c.605T> C (p.Met202Thr)single nucleotide variantLikely pathogenicrs193922311GRCh37Chr 7, 44189433: 44189433
86GCKNM_000162.3(GCK): c.615C> G (p.Asp205Glu)single nucleotide variantLikely pathogenicrs193922312GRCh37Chr 7, 44189423: 44189423
87GCKNM_000162.3(GCK): c.630G> T (p.Met210Ile)single nucleotide variantLikely pathogenicrs193922313GRCh37Chr 7, 44189408: 44189408
88GCKNM_000162.3(GCK): c.635_637delCCT (p.Ser212del)deletionLikely pathogenicrs193922314GRCh37Chr 7, 44189401: 44189403
89GCKNM_000162.3(GCK): c.645C> G (p.Tyr215Ter)single nucleotide variantPathogenicrs144723656GRCh37Chr 7, 44189393: 44189393
90GCKNM_000162.3(GCK): c.658T> C (p.Cys220Arg)single nucleotide variantLikely pathogenicrs193922315GRCh37Chr 7, 44189380: 44189380
91GCKNM_000162.3(GCK): c.659G> A (p.Cys220Tyr)single nucleotide variantLikely pathogenicrs193922316GRCh37Chr 7, 44189379: 44189379
92GCKNM_000162.3(GCK): c.661G> A (p.Glu221Lys)single nucleotide variantLikely pathogenicrs193922317GRCh37Chr 7, 44189377: 44189377
93GCKNM_000162.3(GCK): c.676G> A (p.Val226Met)single nucleotide variantPathogenicrs148311934GRCh37Chr 7, 44189362: 44189362
94GCKNM_000162.3(GCK): c.677T> C (p.Val226Ala)single nucleotide variantLikely pathogenicrs193922319GRCh37Chr 7, 44189361: 44189361
95GCKNM_000162.3(GCK): c.679+1delGdeletionLikely pathogenicrs193922320GRCh37Chr 7, 44189358: 44189358
96GCKNM_000162.3(GCK): c.694G> A (p.Ala232Thr)single nucleotide variantLikely pathogenicrs193922322GRCh37Chr 7, 44187418: 44187418
97GCKNM_000162.3(GCK): c.704T> C (p.Met235Thr)single nucleotide variantLikely pathogenicrs193922323GRCh37Chr 7, 44187408: 44187408
98GCKNM_000162.3(GCK): c.74T> G (p.Leu25Arg)single nucleotide variantLikely pathogenicrs193922325GRCh37Chr 7, 44193034: 44193034
99GCKNM_000162.3(GCK): c.752T> C (p.Met251Thr)single nucleotide variantLikely pathogenicrs193922326GRCh37Chr 7, 44187360: 44187360
100GCKNM_000162.3(GCK): c.758T> C (p.Val253Ala)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
101GCKNM_000162.3(GCK): c.758T> G (p.Val253Gly)single nucleotide variantLikely pathogenicrs193921400GRCh37Chr 7, 44187354: 44187354
102GCKNM_000162.3(GCK): c.760A> C (p.Asn254His)single nucleotide variantLikely pathogenicrs193922327GRCh37Chr 7, 44187352: 44187352
103GCKNM_000162.3(GCK): c.768G> C (p.Glu256Asp)single nucleotide variantLikely pathogenicrs193922328GRCh37Chr 7, 44187344: 44187344
104GCKNM_000162.3(GCK): c.76C> T (p.Gln26Ter)single nucleotide variantLikely pathogenicrs193922329GRCh37Chr 7, 44193032: 44193032
105GCKNM_000162.3(GCK): c.779T> C (p.Phe260Ser)single nucleotide variantLikely pathogenicrs193922330GRCh37Chr 7, 44187333: 44187333
106GCKNM_000162.3(GCK): c.812T> C (p.Leu271Pro)single nucleotide variantLikely pathogenicrs193922332GRCh37Chr 7, 44187300: 44187300
107GCKNM_000162.3(GCK): c.833A> T (p.Asp278Val)single nucleotide variantLikely pathogenicrs193922333GRCh37Chr 7, 44187279: 44187279
108GCKNM_000162.3(GCK): c.871A> T (p.Lys291Ter)single nucleotide variantPathogenicrs193922335GRCh37Chr 7, 44186210: 44186210
109GCKNM_000162.3(GCK): c.907C> T (p.Arg303Trp)single nucleotide variantLikely pathogenicrs193922336GRCh37Chr 7, 44186174: 44186174
110GCKNM_000162.3(GCK): c.917T> C (p.Leu306Pro)single nucleotide variantLikely pathogenicrs193922337GRCh37Chr 7, 44186164: 44186164
111GCKNM_000162.3(GCK): c.944T> A (p.Leu315His)single nucleotide variantPathogenicrs193922338GRCh37Chr 7, 44186137: 44186137
112GCKNM_000162.3(GCK): c.947T> A (p.Phe316Tyr)single nucleotide variantLikely pathogenicrs193922339GRCh37Chr 7, 44186134: 44186134
113GCKNM_000162.3(GCK): c.952G> T (p.Gly318Trp)single nucleotide variantLikely pathogenicrs193922340GRCh37Chr 7, 44186129: 44186129
114GCKNM_000162.3(GCK): c.971T> C (p.Leu324Pro)single nucleotide variantLikely pathogenicrs193922341GRCh37Chr 7, 44186110: 44186110
115GCKGCK: c.dup_Exon2-6duplicationLikely pathogenic
116HNF4ANM_000457.4(HNF4A): c.1163C> G (p.Pro388Arg)single nucleotide variantLikely pathogenicrs193922469GRCh37Chr 20, 43057008: 43057008
117HNF4ANM_000457.4(HNF4A): c.1253G> C (p.Cys418Ser)single nucleotide variantLikely pathogenicrs193922470GRCh37Chr 20, 43057098: 43057098
118HNF4ANM_000457.4(HNF4A): c.347_348delGGinsC (p.Arg116Thrfs)indelLikely pathogenicrs193922471GRCh37Chr 20, 43036077: 43036078
119HNF4ANM_000457.4(HNF4A): c.427A> G (p.Ser143Gly)single nucleotide variantLikely pathogenicrs193922472GRCh37Chr 20, 43042375: 43042375
120HNF4ANM_000457.4(HNF4A): c.505G> A (p.Val169Ile)single nucleotide variantLikely pathogenicrs142204928GRCh37Chr 20, 43043159: 43043159
121HNF4ANM_000457.4(HNF4A): c.619G> C (p.Ala207Pro)single nucleotide variantLikely pathogenicrs193922474GRCh37Chr 20, 43043273: 43043273
122HNF4ANM_000457.4: c.641_648+10del18deletionLikely pathogenicrs193922475GRCh37Chr 20, 43043295: 43043312
123HNF4ANM_000457.4(HNF4A): c.726_728delGCTinsTCAA (p.Leu243Glnfs)indelLikely pathogenicrs193922476GRCh37Chr 20, 43047142: 43047144
124HNF4ANM_000457.4(HNF4A): c.834G> C (p.Glu278Asp)single nucleotide variantLikely pathogenicrs193922477GRCh37Chr 20, 43048458: 43048458
125HNF4ANM_000457.4(HNF4A): c.991C> T (p.Arg331Cys)single nucleotide variantLikely pathogenicrs193922479GRCh37Chr 20, 43052756: 43052756
126HNF4ANM_000457.4(HNF4A): c.997C> T (p.Arg333Cys)single nucleotide variantLikely pathogenicrs193922480GRCh37Chr 20, 43052762: 43052762
127HNF4AHNF4A: c.del_exon4-10deletionLikely pathogenic
128PDX1NM_000209.3(PDX1): c.442C> G (p.Arg148Gly)single nucleotide variantLikely pathogenicrs193922355GRCh37Chr 13, 28498428: 28498428
129PDX1NM_000209.3(PDX1): c.571A> C (p.Lys191Gln)single nucleotide variantLikely pathogenicrs193922356GRCh37Chr 13, 28498557: 28498557
130PDX1NM_000209.3(PDX1): c.725C> T (p.Pro242Leu)single nucleotide variantLikely pathogenicrs193922358GRCh37Chr 13, 28498711: 28498711
131PDX1NM_000209.3(PDX1): c.773A> G (p.Glu258Gly)single nucleotide variantLikely pathogenicrs193922360GRCh37Chr 13, 28498759: 28498759
132HNF1ANM_000545.5(HNF1A): c.1129delC (p.Leu377Serfs)deletionLikely pathogenicrs193922576GRCh37Chr 12, 121434365: 121434365
133HNF1ANM_000545.5(HNF1A): c.1265T> C (p.Leu422Pro)single nucleotide variantLikely pathogenicrs193922577GRCh37Chr 12, 121434501: 121434501
134HNF1ANM_000545.5(HNF1A): c.130delC (p.Leu44Trpfs)deletionPathogenicrs193922578GRCh37Chr 12, 121416701: 121416701
135HNF1ANM_000545.5(HNF1A): c.1424C> T (p.Pro475Leu)single nucleotide variantLikely pathogenicrs193922580GRCh37Chr 12, 121435391: 121435391
136HNF1ANM_000545.5(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs)duplicationLikely pathogenicrs193922582GRCh37Chr 12, 121437076: 121437077
137HNF1ANM_000545.5(HNF1A): c.1663C> T (p.Leu555Phe)single nucleotide variantLikely pathogenicrs193922587GRCh37Chr 12, 121437325: 121437325
138HNF1ANM_000545.5(HNF1A): c.169delC (p.Leu57Trpfs)deletionLikely pathogenicrs193922588GRCh37Chr 12, 121416740: 121416740
139HNF1ANM_000545.5(HNF1A): c.1745A> G (p.His582Arg)single nucleotide variantLikely pathogenicrs193922589GRCh37Chr 12, 121437407: 121437407
140HNF1ANM_000545.5(HNF1A): c.1854C> G (p.Ile618Met)single nucleotide variantLikely pathogenicrs193922591GRCh37Chr 12, 121438953: 121438953
141HNF1ANM_000545.5(HNF1A): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs193922592GRCh37Chr 12, 121416572: 121416572
142HNF1ANM_000545.5(HNF1A): c.281C> T (p.Pro94Leu)single nucleotide variantLikely pathogenicrs193922593GRCh37Chr 12, 121416852: 121416852
143HNF1ANM_000545.5(HNF1A): c.313dupG (p.Glu105Glyfs)duplicationLikely pathogenicrs193922594GRCh37Chr 12, 121416884: 121416885
144HNF1ANM_000545.5(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln)duplicationLikely pathogenicrs193922596GRCh37Chr 12, 121426684: 121426686
145HNF1ANM_000545.5(HNF1A): c.441C> A (p.His147Gln)single nucleotide variantLikely pathogenicrs193922597GRCh37Chr 12, 121426750: 121426750
146HNF1ANM_000545.5(HNF1A): c.467C> T (p.Thr156Met)single nucleotide variantLikely pathogenicrs150513055GRCh37Chr 12, 121426776: 121426776
147HNF1ANM_000545.5(HNF1A): c.518_526+37del46deletionLikely pathogenicrs386134267GRCh37Chr 12, 121426827: 121426872
148HNF1ANM_000545.5(HNF1A): c.598C> T (p.Arg200Trp)single nucleotide variantLikely pathogenicrs193922598GRCh37Chr 12, 121431394: 121431394
149HNF1ANM_000545.5(HNF1A): c.666_668delGAA (p.Lys222del)deletionLikely pathogenicrs193922599GRCh37Chr 12, 121431462: 121431464
150HNF1ANM_000545.5(HNF1A): c.670C> T (p.Pro224Ser)single nucleotide variantLikely pathogenicrs193922600GRCh37Chr 12, 121431466: 121431466
151HNF1ANM_000545.5(HNF1A): c.731G> T (p.Arg244Ile)single nucleotide variantLikely pathogenicrs193922602GRCh37Chr 12, 121431984: 121431984
152HNF1ANM_000545.5(HNF1A): c.734G> T (p.Gly245Val)single nucleotide variantLikely pathogenicrs193922603GRCh37Chr 12, 121431987: 121431987
153HNF1ANM_000545.5(HNF1A): c.790G> T (p.Val264Phe)single nucleotide variantLikely pathogenicrs193922604GRCh37Chr 12, 121432043: 121432043
154HNF1ANM_000545.5(HNF1A): c.803T> C (p.Phe268Ser)single nucleotide variantLikely pathogenicrs193922605GRCh37Chr 12, 121432056: 121432056
155HNF1ANM_000545.5(HNF1A): c.827C> G (p.Ala276Gly)single nucleotide variantLikely pathogenicrs137853245GRCh37Chr 12, 121432080: 121432080
156HNF1ANM_000545.5(HNF1A): c.872C> G (p.Pro291Arg)single nucleotide variantLikely pathogenicrs193922606GRCh37Chr 12, 121432125: 121432125
157HNF1ANM_000545.5(HNF1A): c.965A> G (p.Tyr322Cys)single nucleotide variantLikely pathogenicrs140491072GRCh37Chr 12, 121434074: 121434074
158KLF11NM_003597.4(KLF11): c.1039G> T (p.Ala347Ser)single nucleotide variantPathogenicrs121912645GRCh37Chr 2, 10188503: 10188503
159KLF11NM_003597.4(KLF11): c.659C> T (p.Thr220Met)single nucleotide variantPathogenicrs34336420GRCh37Chr 2, 10188123: 10188123
160PDX1PDX1, 1-BP DEL, 188CdeletionPathogenic
161PDX1NM_000209.3(PDX1): c.226G> A (p.Asp76Asn)single nucleotide variantrisk factorrs137852783GRCh37Chr 13, 28494501: 28494501
162HNF4ANM_000457.4(HNF4A): c.829C> T (p.Gln277Ter)single nucleotide variantPathogenicrs137853334GRCh37Chr 20, 43048453: 43048453
163HNF4ANM_000457.4(HNF4A): c.487C> T (p.Arg163Ter)single nucleotide variantPathogenicrs137853335GRCh37Chr 20, 43042435: 43042435
164HNF4ANM_000457.4(HNF4A): c.406C> T (p.Arg136Trp)single nucleotide variantPathogenicrs137853336GRCh37Chr 20, 43042354: 43042354
165HNF4AHNF4A, 1-BP DEL, PHE75TdeletionPathogenic
166HNF4AHNF4A, IVS5, DEL A, -2deletionPathogenic
167HNF4ANM_000457.4(HNF4A): c.1118T> G (p.Met373Arg)single nucleotide variantPathogenicrs137853338GRCh37Chr 20, 43052883: 43052883

Expression for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Expression patterns in normal tissues for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 1.

Pathways for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Pathways related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9HNF4A, HNF1A
39.4BLK, INS
49.2PDX1, INS, HNF1A
59.1ABCC8, KCNJ11
69.1KCNJ11, ABCC8
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9.1ABCC8, KCNJ11
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Compounds for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Compounds related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1proglucagon4410.1GCK, PDX1
2phosphoenolpyruvate44 1111.0HNF1A, GCK, HNF4A
3chromium picolinate4410.0GCK, INS
4digitonin449.9GCK, BLK
5pyruvate449.7HNF1A, GCK, HNF4A, PDX1
6preproinsulin449.7PDX1, INS, GCK
7meglitinide449.7ABCC8, INS
8i-app449.7GCK, PDX1, INS
9incretin449.7GCK, INS, PDX1
10sterol449.7HNF1A, HNF4A, GCK
11mitiglinide44 1110.7ABCC8, INS
12streptozotocin449.7PDX1, GCK, INS
13chloramphenicol44 2 50 1112.6PDX1, HNF4A, HNF1A
14glipizide44 50 1111.6INS, ABCC8
15myristic acid44 24 1111.6HNF4A, CEL, INS
16chlorpropamide44 50 1111.6ABCC8, INS
17cibenzoline449.5ABCC8, KCNJ11
18nicorandil44 2810.5KCNJ11, ABCC8
19mgadp449.5KCNJ11, ABCC8
20cromakalim44 2810.4KCNJ11, ABCC8
21glycerol44 24 1111.4CEL, GCK, INS, HNF4A
22oligonucleotide449.3HNF1A, HNF4A, PDX1, GCK, CEL
23nateglinide44 50 1111.3INS, ABCC8
24minoxidil44 28 1111.3KCNJ11, ABCC8
25orlistat44 61 1111.2INS, CEL
26glycogen44 2410.1ABCC8, INS, HNF4A, GCK
27glutamine449.0GCK, HNF4A, HNF1A, KCNJ11
28gliclazide44 50 1110.9ABCC8, KCNJ11, INS
29glimepiride44 50 1110.9INS, KCNJ11, ABCC8
30glibenclamide44 28 50 6111.9ABCC8, INS, KCNJ11
31potassium44 24 1110.8GCK, ABCC8, KCNJ11, HNF1A
32retinoic acid44 249.8GCK, PDX1, HNF4A, NEUROD1, ZBTB16, HNF1A
33leucine448.7HNF4A, ABCC8, KCNJ11, HNF1A, GCK
34diazoxide44 61 28 1111.7INS, KCNJ11, ABCC8, GCK
35metformin44 50 1110.7ABCC8, KCNJ11, INS, GCK
36fatty acid448.6HNF4A, GCK, CEL, HNF1A, INS, ABCC8
37cholesterol44 28 24 1111.6ABCC8, GCK, HNF4A, HNF1A, CEL, INS
38testosterone44 61 24 1111.5INS, ZBTB16, HNF4A, ABCC8
39lipid448.5CEL, ABCC8, HNF1A, HNF4A, GCK, INS
40serine448.4INS, PDX1, CEL, GCK, ABCC8, HNF4A
41katp448.4INS, GCK, PDX1, KCNJ11, ABCC8
42tolbutamide44 28 50 1111.4KCNJ11, INS, GCK, HNF1A, ABCC8
43c-peptide448.3HNF1A, INS, PDX1, GCK, KCNJ11, HNF4A
44arginine448.3KCNJ11, ABCC8, HNF4A, GCK, INS
45glutamate448.3INS, GCK, ABCC8, KCNJ11, HNF4A
46tyrosine448.1ZBTB16, HNF4A, HNF1A, INS, BLK, ABCC8
47sulfonylurea448.1HNF1A, GCK, PDX1, INS, KCNJ11, ABCC8
48repaglinide50 44 1110.1KCNJ11, PAX4, ABCC8, NEUROD1, INS
49calcium44 50 24 1110.4HNF4A, NEUROD1, GCK, KCNJ11, ABCC8, BLK
50glucose446.6PDX1, INS, PAX4, KCNJ11, NEUROD1, HNF1A

GO Terms for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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Biological processes related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:05159410.2GCK, PDX1
2negative regulation of gluconeogenesisGO:0457219.9GCK, INS
3positive regulation of glycolytic processGO:0458219.8GCK, INS
4signal transduction involved in regulation of gene expressionGO:0230199.8NEUROD1, HNF4A
5positive regulation of insulin secretionGO:0320249.8GCK, PDX1, BLK
6nitric oxide mediated signal transductionGO:0072639.8PDX1, NEUROD1
7positive regulation of glycogen biosynthetic processGO:0457259.8GCK, INS
8insulin secretionGO:0300739.7PDX1, HNF1A, NEUROD1
9negative regulation of cell proliferationGO:0082859.4KLF11, HNF4A, ZBTB16, PDX1
10positive regulation of cell differentiationGO:0455979.3INS, PAX4, NEUROD1
11potassium ion transmembrane transportGO:0718059.1KCNJ11, ABCC8
12positive regulation of transcription, DNA-templatedGO:0458939.1ZBTB16, HNF1A, HNF4A, NEUROD1
13positive regulation of transcription from RNA polymerase II promoterGO:0459449.1HNF1A, HNF4A, PDX1, NEUROD1
14cellular response to glucose stimulusGO:0713339.0KCNJ11, NEUROD1
15glucose metabolic processGO:0060069.0PDX1, KCNJ11, INS
16positive regulation of apoptotic processGO:0430658.9ZBTB16, KLF11, NEUROD1
17energy reserve metabolic processGO:0061128.8ABCC8, KCNJ11, INS
18response to drugGO:0424938.8PAX4, PDX1, NEUROD1, KCNJ11
19glucose homeostasisGO:0425938.5GCK, PDX1, HNF4A, HNF1A, NEUROD1, INS
20endocrine pancreas developmentGO:0310188.5PDX1, INS, PAX4, NEUROD1, HNF4A, GCK
21small molecule metabolic processGO:0442818.0ABCC8, GCK, CEL, INS, KCNJ11
22regulation of insulin secretionGO:0507967.8ABCC8, NEUROD1, GCK, HNF4A, INS, KCNJ11

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II activating transcription factor bindingGO:0011029.7NEUROD1, HNF4A
2transcription regulatory region DNA bindingGO:0442129.3KLF11, HNF4A, HNF1A
3double-stranded DNA bindingGO:0036909.1ZBTB16, PAX4, NEUROD1
4sequence-specific DNA bindingGO:0435658.9NEUROD1, HNF1A, HNF4A, PAX4
5sequence-specific DNA binding transcription factor activityGO:0037008.0NEUROD1, ZBTB16, PAX4, HNF1A, HNF4A, PDX1

Products for genes affiliated with Maturity-Onset Diabetes of the Young, Type 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Maturity-Onset Diabetes of the Young, Type 1

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet