Diamond-Blackfan Anemia 6 (DBA6)

Alias:
Dba6
Aase-Smith Syndrome Ii
Aase Smith Syndrome 2
Aase Syndrome
Rpl5-Related Diamond-Blackfan Anemia
Anemia, Diamond-Blackfan, Type 6
Diamond-Blackfan Anemia 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Diamond-Blackfan Anemia 6, also known as dba6, is related to diamond-blackfan anemia and diamond-blackfan anemia 1. An important gene associated with Diamond-Blackfan Anemia 6 is RPL5 (Ribosomal Protein L5), and among its related pathways/superpathways are Metabolism and Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include bone marrow and bone, and related phenotypes are cleft palate and micrognathia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
10
50
7

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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