MCID: RRD012
MIFTS: 9

Rare Diabetes Mellitus Type 1

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Rare Diabetes Mellitus Type 1

MalaCards integrated aliases for Rare Diabetes Mellitus Type 1:

Name: Rare Diabetes Mellitus Type 1 59
Rare Insulin-Dependent Diabetes Mellitus 59

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

UMLS via Orphanet 73 C0011854
Orphanet 59 ORPHA181371

Summaries for Rare Diabetes Mellitus Type 1

MalaCards based summary : Rare Diabetes Mellitus Type 1, is also known as rare insulin-dependent diabetes mellitus. An important gene associated with Rare Diabetes Mellitus Type 1 is HNF1A (HNF1 Homeobox A).

Related Diseases for Rare Diabetes Mellitus Type 1

Symptoms & Phenotypes for Rare Diabetes Mellitus Type 1

Drugs & Therapeutics for Rare Diabetes Mellitus Type 1

Search Clinical Trials , NIH Clinical Center for Rare Diabetes Mellitus Type 1

Genetic Tests for Rare Diabetes Mellitus Type 1

Anatomical Context for Rare Diabetes Mellitus Type 1

Publications for Rare Diabetes Mellitus Type 1

Variations for Rare Diabetes Mellitus Type 1

ClinVar genetic disease variations for Rare Diabetes Mellitus Type 1:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs1555212014 12:121432067-121432067 12:120994264-120994264
2 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 12:121435307-121435307 12:120997504-120997504
3 HNF1A NM_000545.6(HNF1A): c.872dup (p.Gly292fs) duplication Pathogenic rs587776825 12:121432125-121432125 12:120994322-120994322
4 HNF1A NM_000545.6(HNF1A): c.1135C> G (p.Pro379Ala) single nucleotide variant Pathogenic/Likely pathogenic rs754729248 12:121434371-121434371 12:120996568-120996568
5 HNF1A NM_000545.6(HNF1A): c.608G> A (p.Arg203His) single nucleotide variant Likely pathogenic rs587780357 12:121431404-121431404 12:120993601-120993601
6 FOXP3 NM_014009.3(FOXP3): c.398C> T (p.Pro133Leu) single nucleotide variant Likely pathogenic rs782511378 X:49113940-49113940 X:49257483-49257483
7 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs137853247 12:121416663-121416663 12:120978860-120978860
8 HNF1A NM_000545.6(HNF1A): c.1501+6C> T single nucleotide variant Uncertain significance rs374306837 12:121435474-121435474 12:120997671-120997671

Expression for Rare Diabetes Mellitus Type 1

Search GEO for disease gene expression data for Rare Diabetes Mellitus Type 1.

Pathways for Rare Diabetes Mellitus Type 1

GO Terms for Rare Diabetes Mellitus Type 1

Sources for Rare Diabetes Mellitus Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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