MODY1
MCID: MTR018
MIFTS: 63

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

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 autosomal dominant inheritanceand maturity-onset diabetes of the young. 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 HIF-1-alpha transcription factor network and Dichloroethylene metabolism. The drugs insulin and insulin, aspart, human and the compounds proglucagon and chromium picolinate 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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Sources:
42NIH Rare Diseases, 21GeneTests, 23GTR, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet
See all sources

Maturity-Onset Diabetes of the Young, Type 1, Aliases & Descriptions:

Name: Maturity-Onset Diabetes of the Young, Type 1 42 61
Type 1 Maturity-Onset Diabetes of the Young 42 21 23
Maturity-Onset Diabetes of the Young 48 61
Diabetes Mellitus, Insulin-Dependent 61
Diabetes Mellitus Mody Type 1 42
 
Mody Hnf4a Related 42
Mody Syndrome 48
Mody, Type I 46
Mody Type 1 42
Mody1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
maturity-onset diabetes of the young:
Inheritance: Autosomal dominant; Age of onset: Adulthood


External Ids:

ICD10 via Orphanet27 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1hyperinsulinemic hypoglycemia30.9INS, ABCC8
2diabetic ketoacidosis30.9INS
3type 1 diabetes mellitus30.6INS, HNF1A, HNF4A, GCK
4permanent neonatal diabetes mellitus30.5ABCC8, INS, GCK
5hypoglycemia30.4ABCC8, KCNJ11, INS, HNF4A, GCK
6insulin resistance30.0ABCC8, INS, PAX4, HNF1A, HNF4A, GCK
7hyperinsulinism29.9GCK, INS, KCNJ11, ABCC8
8obesity29.7ABCC8, KCNJ11, INS, HNF1A, HNF4A, GCK
9maturity-onset diabetes of the young29.6GCK, PDX1, HNF4A, HNF1A, NEUROD1, PAX4
10gestational diabetes29.6GCK, HNF4A, HNF1A, INS, KCNJ11, ABCC8
11type 2 diabetes mellitus29.1ABCC8, KCNJ11, INS, PAX4, NEUROD1, HNF1A
12hyperglycemia28.8GCK, PDX1, HNF4A, HNF1A, NEUROD1, PAX4
13diabetes mellitus28.4ABCC8, KCNJ11, INS, PAX4, NEUROD1, HNF1A
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
22hepatitis10.7
23maturity-onset diabetes of the young, type 1110.6
24maturity-onset diabetes of the young, type 1010.6
25pancreatic agenesis10.5PDX1
26duodenitis10.5
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 insufficiency10.4CEL
31colorectal cancer10.3
32diabetic nephropathy10.3
33diabetic retinopathy10.3
34granuloma annulare10.3
35proliferative diabetic retinopathy10.3
36necrobiosis lipoidica10.3
37kidney disease10.3
38thyroiditis10.3
39transient neonatal diabetes mellitus10.3
40fanconi renotubular syndrome 210.3
41blindness10.3
42renal dysplasia10.3
43hepatoblastoma10.2HNF4A, HNF1A
44hyperuricemia10.1GCK, INS
45monogenic diabetes10.1
46leukemia10.1
47myeloid leukemia10.1
48pancreatitis10.1
49diabetes mellitus, noninsulin-dependent10.0HNF4A, NEUROD1, ABCC8
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:

125850

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 121 HNF4A
2 Maturity-Onset Diabetes of the Young, Type 123

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
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4INS, CEL, HNF1A, HNF4A, PDX1, GCK
2MP:00053678.4INS, NEUROD1, HNF1A, PDX1, GCK
3MP:00053758.3HNF1A, CEL, INS, KCNJ11
4MP:00028738.2BLK, INS, PAX4, HNF4A, PDX1, KLF11
5MP:00053818.0INS, NEUROD1, CEL, HNF1A, PDX1
6MP:00030127.7PDX1, HNF1A, INS, KCNJ11, ABCC8
7MP:00107687.0KCNJ11, INS, PAX4, NEUROD1, HNF1A, HNF4A
8MP:00053796.8GCK, ABCC8, KCNJ11, INS, PAX4, NEUROD1
9MP:00053786.7KCNJ11, INS, PAX4, NEUROD1, CEL, HNF1A
10MP:00053766.6ABCC8, KCNJ11, INS, NEUROD1, CEL, HNF1A

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:

idTitleAuthorsYear
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)
2013
2
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)
2001
3
Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1. (10940385)
2000

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:

63
id Symbol AA change Variation ID SNP ID
1HNF4Ap.Arg136TrpVAR_004668rs137853336
2HNF4Ap.Glu285GlnVAR_010601

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

7 (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 pathogenic, 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 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9GCK, HNF4A
29.9HNF4A, HNF1A
39.7HNF4A, NEUROD1
49.4INS, BLK
59.2INS, HNF1A, PDX1
69.1KCNJ11, ABCC8
7
Show member pathways
9.1ABCC8, KCNJ11
89.1ABCC8, KCNJ11
9
Show member pathways
8.8GCK, HNF4A, NEUROD1, INS
10
Show member pathways
8.5INS, KCNJ11, ABCC8
118.4INS, NEUROD1, HNF1A, HNF4A, PDX1
12
Show member pathways
7.9ABCC8, KCNJ11, INS, PDX1, GCK
13
Show member pathways
7.9GCK, CEL, INS, KCNJ11, ABCC8
14
Show member pathways
7.7PAX4, INS, NEUROD1, HNF1A, HNF4A, GCK
15
Show member pathways
7.7INS, PAX4, NEUROD1, HNF1A, HNF4A, PDX1
167.3GCK, PDX1, HNF4A, HNF1A, INS, KCNJ11
17
Show member pathways
6.8GCK, PDX1, HNF4A, HNF1A, NEUROD1, INS

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 62)
idCompoundScoreTop Affiliating Genes
1proglucagon4410.0PDX1, GCK
2chromium picolinate4410.0GCK, INS
3phosphoenolpyruvate44 1210.9HNF1A, HNF4A, GCK
4digitonin449.9BLK, GCK
5sterol449.7GCK, HNF4A, HNF1A
6meglitinide449.7INS, ABCC8
7mitiglinide44 1210.7INS, ABCC8
8preproinsulin449.7INS, PDX1, GCK
9i-app449.7INS, PDX1, GCK
10incretin449.7GCK, PDX1, INS
11pyruvate449.7HNF1A, HNF4A, PDX1, GCK
12streptozotocin449.6INS, PDX1, GCK
13glipizide44 50 1211.6ABCC8, INS
14chlorpropamide44 50 1211.6INS, ABCC8
15cibenzoline449.5ABCC8, KCNJ11
16myristic acid44 25 1211.5INS, CEL, HNF4A
17orlistat44 60 1211.5CEL, INS
18nicorandil44 2910.5KCNJ11, ABCC8
19mgadp449.5KCNJ11, ABCC8
20chloramphenicol44 3 50 1212.4HNF1A, HNF4A, PDX1
21nateglinide44 50 1211.4INS, ABCC8
22cromakalim44 2910.4KCNJ11, ABCC8
23minoxidil44 29 1211.3KCNJ11, ABCC8
24glycerol44 25 1211.3GCK, HNF4A, CEL, INS
25oligonucleotide449.3GCK, PDX1, HNF4A, HNF1A, CEL
26glycogen44 2510.1GCK, HNF4A, INS, ABCC8
27glutamine449.0GCK, HNF4A, HNF1A, KCNJ11
28retinoic acid44 2510.0NEUROD1, HNF1A, HNF4A, PDX1, GCK
29gliclazide44 50 1210.9ABCC8, KCNJ11, INS
30glimepiride44 50 1210.9INS, KCNJ11, ABCC8
31glibenclamide44 29 50 6011.9ABCC8, KCNJ11, INS
32phosphatidylinositol448.8PDX1, HNF4A, INS, BLK
33potassium44 25 1210.8GCK, HNF1A, KCNJ11, ABCC8
34diazoxide44 60 29 1211.7GCK, INS, KCNJ11, ABCC8
35dexamethasone44 50 29 1211.7GCK, HNF4A, HNF1A, INS
36metformin44 50 1210.7GCK, INS, KCNJ11, ABCC8
37leucine448.6ABCC8, KCNJ11, HNF1A, HNF4A, GCK
38fatty acid448.5ABCC8, INS, CEL, HNF1A, HNF4A, GCK
39cholesterol44 29 25 1211.5ABCC8, INS, CEL, HNF1A, HNF4A, GCK
40lipid448.4ABCC8, INS, CEL, HNF1A, HNF4A, GCK
41serine448.4ABCC8, INS, CEL, HNF4A, PDX1, GCK
42katp448.3ABCC8, KCNJ11, INS, PDX1, GCK
43tolbutamide44 29 50 1211.3ABCC8, KCNJ11, INS, HNF1A, GCK
44arginine448.3ABCC8, KCNJ11, INS, HNF4A, GCK
45glutamate448.3ABCC8, KCNJ11, INS, HNF4A, GCK
46c-peptide448.3KCNJ11, INS, HNF1A, HNF4A, PDX1, GCK
47repaglinide50 44 1210.0ABCC8, KCNJ11, INS, PAX4, NEUROD1
48sulfonylurea448.0GCK, ABCC8, KCNJ11, INS, HNF1A, PDX1
49calcium44 50 25 1210.3ABCC8, BLK, KCNJ11, NEUROD1, CEL, HNF4A
50glucose446.5ABCC8, KCNJ11, INS, PAX4, NEUROD1, HNF1A

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

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056549.0GCK, HNF4A, NEUROD1, PAX4

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:05159410.2PDX1, GCK
2signal transduction involved in regulation of gene expressionGO:0230199.9HNF4A, NEUROD1
3negative regulation of gluconeogenesisGO:0457219.8GCK, INS
4nitric oxide mediated signal transductionGO:0072639.8PDX1, NEUROD1
5positive regulation of glycolytic processGO:0458219.8GCK, INS
6positive regulation of glycogen biosynthetic processGO:0457259.8INS, GCK
7positive regulation of insulin secretionGO:0320249.7GCK, PDX1, BLK
8insulin secretionGO:0300739.6NEUROD1, HNF1A, PDX1
9glucose transportGO:0157589.6GCK, INS
10negative regulation of cell proliferationGO:0082859.5KLF11, PDX1, HNF4A
11response to glucoseGO:0097499.4HNF4A, NEUROD1
12positive regulation of cell differentiationGO:0455979.3NEUROD1, PAX4, INS
13cellular response to glucose stimulusGO:0713339.2NEUROD1, KCNJ11
14positive regulation of transcription from RNA polymerase II promoterGO:0459449.1PDX1, HNF4A, HNF1A, NEUROD1
15potassium ion transmembrane transportGO:0718059.1ABCC8, KCNJ11
16glucose metabolic processGO:0060069.0PDX1, INS, KCNJ11
17energy reserve metabolic processGO:0061128.8ABCC8, KCNJ11, INS
18response to drugGO:0424938.7PDX1, NEUROD1, PAX4, KCNJ11
19glucose homeostasisGO:0425938.5INS, GCK, PDX1, HNF4A, HNF1A, NEUROD1
20endocrine pancreas developmentGO:0310188.4GCK, PDX1, HNF4A, NEUROD1, PAX4, INS
21small molecule metabolic processGO:0442818.0ABCC8, KCNJ11, INS, CEL, GCK
22regulation of insulin secretionGO:0507967.8HNF4A, NEUROD1, INS, KCNJ11, ABCC8, GCK

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.5KLF11, HNF4A, HNF1A
2RNA polymerase II activating transcription factor bindingGO:0011029.4NEUROD1, HNF4A
3protein heterodimerization activityGO:0469829.3PDX1, HNF1A, NEUROD1
4sequence-specific DNA bindingGO:0435658.9PAX4, NEUROD1, HNF1A, HNF4A
5sequence-specific DNA binding transcription factor activityGO:0037008.4KLF11, PDX1, HNF4A, HNF1A, NEUROD1, PAX4

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet