MCID: MTR044
MIFTS: 28

Maturity-Onset Diabetes of the Young, Type 10

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 10

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 10:

Name: Maturity-Onset Diabetes of the Young, Type 10 54 29 13 69
Mody10 12 24 71
Maturity-Onset Diabetes of the Young Type 10 12 24
Maturity-Onset Diabetes of the Young 10 71
Mody Type 10 71
Mody-10 71

Characteristics:

OMIM:

54
Miscellaneous:
diagnosed in second or third decade of life
occasionally low-dose insulin required

Inheritance:
autosomal dominant


HPO:

32
maturity-onset diabetes of the young, type 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613370
Disease Ontology 12 DOID:0111108
MedGen 40 C3150617
MeSH 42 D003924
SNOMED-CT via HPO 65 263681008 609561005

Summaries for Maturity-Onset Diabetes of the Young, Type 10

UniProtKB/Swiss-Prot : 71 Maturity-onset diabetes of the young 10: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 10, also known as mody10, is related to maturity-onset diabetes of the young, and has symptoms including maturity-onset diabetes of the young An important gene associated with Maturity-Onset Diabetes of the Young, Type 10 is INS (Insulin). The drugs Moxonidine and Pitavastatin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and breast.

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the INS gene on chromosome 11p15.5.

Description from OMIM: 613370

Related Diseases for Maturity-Onset Diabetes of the Young, Type 10

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type Vii Maturity-Onset Diabetes of the Young 6
Maturity-Onset Diabetes of the Young, Type 14 Maturity-Onset Diabetes of the Young, Type Ix
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type Viii
Maturity-Onset Diabetes of the Young, Type 10 Maturity-Onset Diabetes of the Young, Type 13

Diseases related to Maturity-Onset Diabetes of the Young, Type 10 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 10.9

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 10

Symptoms via clinical synopsis from OMIM:

54

Endocrine Features:
diabetes mellitus


Clinical features from OMIM:

613370

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 10:

32
id Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 10

Drugs for Maturity-Onset Diabetes of the Young, Type 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 79)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Moxonidine Approved Phase 4 75438-57-2 4810
2
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
3 Mirabegron Approved Phase 4 223673-61-8
4 Hormones Phase 4,Phase 3,Phase 2,Phase 1
5 insulin Phase 4,Phase 2,Phase 1
6 Insulin, Globin Zinc Phase 4,Phase 2,Phase 1
7 Antihypertensive Agents Phase 4
8 Anticholesteremic Agents Phase 4
9 Antimetabolites Phase 4
10 Atorvastatin Calcium Phase 4 134523-03-8
11 Calcium, Dietary Phase 4
12 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
13 Hypolipidemic Agents Phase 4
14 Lipid Regulating Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Adrenergic Agents Phase 4
17 Adrenergic Agonists Phase 4
18 Adrenergic beta-3 Receptor Agonists Phase 4
19 Adrenergic beta-Agonists Phase 4
20
Exenatide Approved, Investigational Phase 3 141758-74-9 15991534
21
Metformin Approved Phase 3 657-24-9 14219 4091
22 Hormone Antagonists Phase 3,Phase 2,Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1
24 Incretins Phase 3,Phase 1
25 Hypoglycemic Agents Phase 3,Phase 1
26
Methyltestosterone Approved Phase 2 58-18-4 6010
27
Testosterone Approved, Investigational Phase 2 58-22-0 6013
28
Enclomiphene Investigational Phase 2 15690-57-0
29 Antineoplastic Agents, Hormonal Phase 2,Phase 1
30 Anabolic Agents Phase 2
31 Androgens Phase 2
32 Clomiphene Phase 2
33 Estrogen Antagonists Phase 2
34 Estrogen Receptor Modulators Phase 2
35 Estrogens Phase 2
36 Fertility Agents Phase 2
37 Selective Estrogen Receptor Modulators Phase 2
38 Testosterone 17 beta-cypionate Phase 2
39
Testosterone enanthate Phase 2 315-37-7 9416
40 Testosterone undecanoate Phase 2
41 Zuclomiphene Phase 2
42 Citrate Nutraceutical Phase 2
43
Citric Acid Nutraceutical, Vet_approved Phase 2 77-92-9 311
44
Octreotide Approved, Investigational Phase 1 83150-76-9 383414 6400441
45
Somatostatin Approved Phase 1 38916-34-6, 51110-01-1 53481605
46
Zinc Approved Phase 1 7440-66-6 32051 23994
47
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
48
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
49 tannic acid Approved, Nutraceutical Phase 1
50 Glucagon-Like Peptide 1 Phase 1

Interventional clinical trials:

(show all 24)

id Name Status NCT ID Phase Drugs
1 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
2 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
3 Efficacy and Safety Study of Pitavastatin Compared to atoRvastatin in Type 2 dIabeTes Mellitus With Hypercholesterolemia Completed NCT00889226 Phase 4 Pitavastatin;Atorvastatin
4 Mirabegron and Brown Adipose Tissue Recruiting NCT03012113 Phase 4 Mirabegron;Placebo Oral Capsule
5 Evaluation of the Effect on Glucose Control of AC2993 in Patients With Type 2 Diabetes Mellitus Treated With a Sulfonylurea Completed NCT00039026 Phase 3 AC2993;AC2993;Placebo;Placebo
6 Extension Study for 2993-112 Completed NCT01789957 Phase 3 AC2993
7 Partners for Better Health in Adolescent Type 2 Diabetes: The Buddy Study Completed NCT01007266 Phase 2
8 Hypogonadism in Young Men With Type 2 Diabetes Terminated NCT01155518 Phase 2 testosterone;clomiphene;placebo;placebo
9 A Study of MK-0893 on Glucagon-Induced Glycemic Excursion in Healthy Male Participants Following Intravenous Administration of Glucagon, Sandostatine® and Insulin (MK-0893-002) Completed NCT02012166 Phase 1 MK-0893 10 mg;MK-0893 40 mg;MK-0893 200 mg;MK-0893 1000 mg;Placebo
10 Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance in Type 1 Diabetes and Maturity Onset Diabetes of the Young, Type 2 (MODY2) Recruiting NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
11 Open-Label Study Evaluating the Safety and Tolerability of LJM716, BYL719 and Trastuzumab in Patients With Metastatic HER2+ Breast Cancer Recruiting NCT02167854 Phase 1 BYL719;LJM716;TRASTUZUMAB
12 MoCa Test for the Early Detection of Mild Cognitive Impairment During Annual Assessment of Young Adults With Diabetes and in a Control Group Without Diabetes Unknown status NCT02545062
13 Screening Adolescents for Type 2 Diabetes Mellitus in a Community Clinic Unknown status NCT00042042
14 The Effects of Premeal Consumption of Protein-enriched Bar on Blood Glucose Level and Secretion of Hormones Unknown status NCT02589028
15 Orthogonal Polarisation Study in Young, Elderly and Type 2 Diabetics Completed NCT01476384
16 A Comparison Chocolate With and Without High Cocoa Solids in Patients With Type 2 Diabetes in a Randomised Clinical Trial Completed NCT01617603
17 The Acute Effects of Low-dose TNF-α on Glucose Metabolism and β-cell Function in Humans Completed NCT01953393
18 Effects of 3 Months of Selective Serotonin Reuptake Inhibitor (SSRI)-Treatment on Metabolism and Hypothalamic-pituitary-adrenal (HPA)-Axis in Young Men Born With Low Birth Weight Completed NCT00971815 Escitalopram;placebo
19 Foundations for Health Completed NCT01304615
20 Effects of Nitrate on Liver Perfusion and Sugar Control Completed NCT02195856
21 Resilient, Empowered, Active Living: REAL Diabetes Study Completed NCT02214641
22 Creative Arts Diabetes Initiative for Youth/Young Adults Transitioning to Adult Care Recruiting NCT02790892
23 Exercise Resistance in Type 2 Diabetes Active, not recruiting NCT01911104
24 Effect of Diet and Physical Activity on Incidence of Type 2 Diabetes Active, not recruiting NCT01777893

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 10

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 10

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 10:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 10 29
2 Maturity-Onset Diabetes of the Young Type 10 24 INS

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 10

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 10:

39
Liver, Testes, Breast, Thyroid, Pituitary

Publications for Maturity-Onset Diabetes of the Young, Type 10

Variations for Maturity-Onset Diabetes of the Young, Type 10

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 10:

71
id Symbol AA change Variation ID SNP ID
1 INS p.Arg6Cys VAR_063721 rs121908278
2 INS p.Arg6His VAR_063722 rs121908259
3 INS p.Arg46Gln VAR_063729 rs121908260

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 10:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 INS NM_000207.2(INS): c.16C> T (p.Arg6Cys) single nucleotide variant Pathogenic rs121908278 GRCh37 Chromosome 11, 2182186: 2182186
2 INS NM_000207.2(INS): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs121908260 GRCh37 Chromosome 11, 2182065: 2182065
3 INS NM_000207.2(INS): c.125T> C (p.Val42Ala) single nucleotide variant Likely pathogenic rs886037863 GRCh37 Chromosome 11, 2182077: 2182077

Expression for Maturity-Onset Diabetes of the Young, Type 10

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 10.

Pathways for Maturity-Onset Diabetes of the Young, Type 10

GO Terms for Maturity-Onset Diabetes of the Young, Type 10

Sources for Maturity-Onset Diabetes of the Young, Type 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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