Dyskeratosis Congenita, Autosomal Dominant 6 (DKCA6)

Alias:
Dyskeratosis Congenita, Autosomal Recessive 7
Dkca6
Dyskeratosis Congenita, Autosomal Recessive, 7
Dyskeratosis Congenita, Autosomal Dominant, 6
Autosomal Dominant Dyskeratosis Congenita 6
Hereditary Isolated Aplastic Anemia
Dyskeratosis Congenita
Dkcb7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Dyskeratosis Congenita, Autosomal Dominant 6, also known as dyskeratosis congenita, autosomal recessive 7, is related to dyskeratosis congenita and pancytopenia. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 6 is ACD (ACD Shelterin Complex Subunit And Telomerase Recruitment Factor), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Hematopoietic Stem Cells and Lineage-specific Markers. The drugs Fludarabine and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are abnormality of the dentition and short telomere length
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
--
3
22
4

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

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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