MCID: HMR041
MIFTS: 9

Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation

Categories: Blood diseases, Immune diseases, Rare diseases

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

MalaCards integrated aliases for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation:

Name: Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 58 6

Characteristics:

Orphanet epidemiological data:

58
hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Orphanet 58 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...

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...

Articles related to Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation:

# Title Authors PMID Year
1
Mechanism of protein C deficiency in a patient with arginine 358 alpha 1-antitrypsin (Pittsburgh mutation): role in the maintenance of hemostatic balance. 6
7706910 1995
2
The molecular basis of genetic dominance. 6
8182727 1994
3
Met 358 to Arg mutation of alpha 1-antitrypsin associated with protein C deficiency in a patient with mild bleeding tendency. 6
1569192 1992
4
Alpha-1-antitrypsin-Pittsburgh. A potent inhibitor of human plasma factor XIa, kallikrein, and factor XIIf. 6
3484755 1986
5
Recombinant alpha 1-antitrypsin Pittsburgh (Met 358----Arg) is a potent inhibitor of plasma kallikrein and activated factor XII fragment. 6
3484756 1986
6
Mutation of antitrypsin to antithrombin. alpha 1-antitrypsin Pittsburgh (358 Met leads to Arg), a fatal bleeding disorder. 6
6604220 1983
7
Antithrombin Pittsburgh: an alpha1-antitrypsin variant causing hemorrhagic disease. 6
412531 1978

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
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SERPINA1 NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg) SNV Pathogenic 17982 rs121912713 GRCh37: 14:94844898-94844898
GRCh38: 14:94378561-94378561

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
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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