MCID: HMR041
MIFTS: 4

Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation malady

Categories: Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Aliases & Descriptions for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation:

Name: Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 56

Characteristics:

Orphanet epidemiological data:

56
hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

Classifications:



External Ids:

Orphanet 56 ORPHA178396

Summaries for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

MalaCards based summary : Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation An important gene associated with Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation is SERPINA1 (Serpin Family A Member 1).

Related Diseases for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Diseases in the Hemorrhagic Disease family:

Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation

Symptoms & Phenotypes for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Drugs & Therapeutics for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Search Clinical Trials , NIH Clinical Center for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation

Genetic Tests for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Anatomical Context for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Publications for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Variations for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

ClinVar genetic disease variations for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh37 Chromosome 14, 94844898: 94844898

Expression for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Search GEO for disease gene expression data for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation.

Pathways for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

GO Terms for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

Sources for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh...

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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