Diamond-Blackfan Anemia 8 (DBA8)

Alias:
Dba8
Rps7-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diamond-Blackfan Anemia 8, also known as dba8, is related to alzheimer disease mitochondrial and severe congenital neutropenia 1. An important gene associated with Diamond-Blackfan Anemia 8 is RPS7 (Ribosomal Protein S7), and among its related pathways/superpathways are Complex I biogenesis and SARS-CoV-2 modulates host translation machinery. Affiliated tissues include bone marrow and bone, and related phenotypes are macrocytic anemia and increased mean corpuscular volume
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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4
16
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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