MCID: HMR041

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

Categories: Blood diseases, Rare diseases

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

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

Name: Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh Mutation 52

Characteristics:

Orphanet epidemiological data:

52
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:

Orphanet52 ORPHA178396

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

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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...

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

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

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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...

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

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Animal Models for Hemorrhagic Disease Due to Alpha-1-Antitrypsin Pittsburgh... or affiliated genes

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

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

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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)single nucleotide variantPathogenicrs121912713GRCh37Chr 14, 94844898: 94844898

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

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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...

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet