MCID: RRD012
MIFTS: 9

Rare Diabetes Mellitus Type 1

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

Aliases & Classifications for Rare Diabetes Mellitus Type 1

MalaCards integrated aliases for Rare Diabetes Mellitus Type 1:

Name: Rare Diabetes Mellitus Type 1 58
Rare Insulin-Dependent Diabetes Mellitus 58

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

UMLS via Orphanet 72 C0011854
Orphanet 58 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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNF1A NM_000545.6(HNF1A):c.814C>T (p.Arg272Cys)SNV Pathogenic 447503 rs1555212014 12:121432067-121432067 12:120994264-120994264
2 HNF1A NM_000545.6(HNF1A):c.872dup (p.Gly292fs)duplication Pathogenic 14927 rs587776825 12:121432117-121432118 12:120994314-120994315
3 HNF1A NM_000545.6(HNF1A):c.1340C>T (p.Pro447Leu)SNV Pathogenic 14928 rs137853236 12:121435307-121435307 12:120997504-120997504
4 HNF1A NM_000545.6(HNF1A):c.608G>A (p.Arg203His)SNV Likely pathogenic 129235 rs587780357 12:121431404-121431404 12:120993601-120993601
5 FOXP3 NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu)SNV Likely pathogenic 268095 rs782511378 X:49113940-49113940 X:49257483-49257483
6 HNF1A NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala)SNV Conflicting interpretations of pathogenicity 431970 rs754729248 12:121434371-121434371 12:120996568-120996568
7 HNF1A NM_000545.6(HNF1A):c.1501+6C>TSNV Conflicting interpretations of pathogenicity 435420 rs374306837 12:121435474-121435474 12:120997671-120997671
8 HNF1A NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp)SNV Conflicting interpretations of pathogenicity 14948 rs137853247 12:121416663-121416663 12:120978860-120978860
9 CEL NM_001807.5(CEL):c.1966G>C (p.Ala656Pro)SNV Uncertain significance 128688 rs587780309 9:135946855-135946855 9:133071468-133071468
10 46;XX;inv(14)(q24.1q32.1)dninversion Uncertain significance 267889

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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