Atransferrinemia (ATRAF)

Alias:
Familial Hypotransferrinemia
Hypotransferrinemia, Familial
Congenital Atransferrinemia
Atraf
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Atransferrinemia, also known as familial hypotransferrinemia, is related to hemosiderosis and iron overload. An important gene associated with Atransferrinemia is TF (Transferrin), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Insulin receptor recycling. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include heart and liver, and related phenotypes are congestive heart failure and abnormality of the liver
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
--
13
138
14

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

Name
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
Journal
Year
IF
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