Mercaptolactate-Cysteine Disulfiduria (MCDU)

Alias:
Mcdu
3-Mercaptopyruvate Sulfurtransferase Deficiency
Beta-Mercaptolactate Cysteine Disulfiduria
Ampola Syndrome
Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria
Disulfiduria, Mixed
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mercaptolactate-Cysteine Disulfiduria, also known as mcdu, is related to anxiety and acute lung injury. An important gene associated with Mercaptolactate-Cysteine Disulfiduria is MPST (Mercaptopyruvate Sulfurtransferase). Affiliated tissues include skin, and related phenotypes are intellectual disability and seizure

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
1
12
5

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
Year
IF
No Data Found!
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