MCID: HMR041

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...

About this section

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

Name: Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 54

Characteristics:

Orphanet epidemiological data:

54
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:

Orphanet54 ORPHA178396

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

About this section
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...

About this section

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...

About this section

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

About this section

Interventional clinical trials:

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

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

About this section

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

About this section

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

About this section

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

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1SERPINA1NM_001127701.1(SERPINA1): c.1145T> G (p.Met382Arg)SNVPathogenicrs121912713GRCh37Chr 14, 94844898: 94844898

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

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

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

About this section

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

About this section

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet