MCID: DBT086
MIFTS: 13

Diabetes Mellitus, Noninsulin-Dependent, 5

Categories: Genetic diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Diabetes Mellitus, Noninsulin-Dependent, 5

MalaCards integrated aliases for Diabetes Mellitus, Noninsulin-Dependent, 5:

Name: Diabetes Mellitus, Noninsulin-Dependent, 5 57 29 6 73
Niddm5 57 75
Diabetes Mellitus, Noninsulin-Dependent, Type 5 40
Diabetes Mellitus, Non-Insulin-Dependent, 5 75

Classifications:



External Ids:

OMIM 57 616087
MedGen 42 CN221135
MeSH 44 D003924
UMLS 73 C4015183

Summaries for Diabetes Mellitus, Noninsulin-Dependent, 5

UniProtKB/Swiss-Prot : 75 Diabetes mellitus, non-insulin-dependent, 5: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

MalaCards based summary : Diabetes Mellitus, Noninsulin-Dependent, 5, is also known as niddm5. An important gene associated with Diabetes Mellitus, Noninsulin-Dependent, 5 is TBC1D4 (TBC1 Domain Family Member 4). Affiliated tissues include kidney and eye.

Description from OMIM: 616087

Related Diseases for Diabetes Mellitus, Noninsulin-Dependent, 5

Symptoms & Phenotypes for Diabetes Mellitus, Noninsulin-Dependent, 5

Clinical features from OMIM:

616087

Drugs & Therapeutics for Diabetes Mellitus, Noninsulin-Dependent, 5

Search Clinical Trials , NIH Clinical Center for Diabetes Mellitus, Noninsulin-Dependent, 5

Genetic Tests for Diabetes Mellitus, Noninsulin-Dependent, 5

Genetic tests related to Diabetes Mellitus, Noninsulin-Dependent, 5:

# Genetic test Affiliating Genes
1 Diabetes Mellitus, Noninsulin-Dependent, 5 29 TBC1D4

Anatomical Context for Diabetes Mellitus, Noninsulin-Dependent, 5

MalaCards organs/tissues related to Diabetes Mellitus, Noninsulin-Dependent, 5:

41
Kidney, Eye

Publications for Diabetes Mellitus, Noninsulin-Dependent, 5

Variations for Diabetes Mellitus, Noninsulin-Dependent, 5

ClinVar genetic disease variations for Diabetes Mellitus, Noninsulin-Dependent, 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBC1D4 NM_014832.4(TBC1D4): c.2050C> T (p.Arg684Ter) single nucleotide variant Pathogenic rs61736969 GRCh38 Chromosome 13, 75324385: 75324385
2 TBC1D4 NM_014832.4(TBC1D4): c.2050C> T (p.Arg684Ter) single nucleotide variant Pathogenic rs61736969 GRCh37 Chromosome 13, 75898521: 75898521

Expression for Diabetes Mellitus, Noninsulin-Dependent, 5

Search GEO for disease gene expression data for Diabetes Mellitus, Noninsulin-Dependent, 5.

Pathways for Diabetes Mellitus, Noninsulin-Dependent, 5

GO Terms for Diabetes Mellitus, Noninsulin-Dependent, 5

Sources for Diabetes Mellitus, Noninsulin-Dependent, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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