Transaldolase Deficiency (TALDOD)

Alias:
Taldo Deficiency
Deficiency of Transaldolase
Eyaid Syndrome
Taldod
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Transaldolase Deficiency, also known as taldo deficiency, is related to liver cirrhosis and cutis laxa, and has symptoms including hepatosplenomegaly An important gene associated with Transaldolase Deficiency is TALDO1 (Transaldolase 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Nuclear events mediated by NFE2L2. Affiliated tissues include liver and skin, and related phenotypes are anemia and cirrhosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
2
7
8

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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