Molybdenum Cofactor Deficiency, Complementation Group a (MOCODA)

Alias:
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type a
Mocoda
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type a
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase
Molybdenum Cofactor Deficiency Type a
Molybdenum Cofactor Deficiency a
Mocod Type a
Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase, Combined Deficiency of
Deficiency, Molybdenum Cofactor, Complementation Group a
Molybdenum Cofactor Deficiency Complementation Group a
Molybdenum Cofactor Deficiency, Type a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Molybdenum Cofactor Deficiency, Complementation Group a, also known as sulfite oxidase deficiency due to molybdenum cofactor deficiency type a, is related to molybdenum cofactor deficiency, complementation group c and molybdenum cofactor deficiency, complementation group b, and has symptoms including opisthotonus An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group a is MOCS1 (Molybdenum Cofactor Synthesis 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include eye and brain, and related phenotypes are macrocephaly and intellectual disability
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
<1/1000000
17
87
36

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
Journal
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IF
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