Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to (OTCD)

Alias:
Ornithine Carbamoyltransferase Deficiency
Ornithine Transcarbamylase Deficiency
Otc Deficiency
Ornithine Carbamoyltransferase Deficiency Disease
Oct Deficiency
Hyperammonemia Due to Ornithine Carbamoyltransferase Deficiency
Deficiency, Ornithine Carbamoyltransferase
Deficiency of Citrulline Phosphorylase
Otcd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to, also known as ornithine carbamoyltransferase deficiency, is related to brain edema and reye syndrome, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to is OTC (Ornithine Transcarbamylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include Liver and brain, and related phenotypes are splenomegaly and aminoaciduria
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
All ages
1-9/100000
19
124
289

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

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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