MCID: HMR041
MIFTS: 5

Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation

Categories: Blood diseases, Rare diseases, Immune 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 59 6

Characteristics:

Orphanet epidemiological data:

59
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 59 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
# 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
2 SERPINA1 NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg) single nucleotide variant Pathogenic rs121912713 GRCh38 Chromosome 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 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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