Homocystinuria Due to Cystathionine Beta-Synthase Deficiency (CBSD)

Alias:
Homocystinuria with or Without Response to Pyridoxine
Homocystinuria, B6-Responsive and Nonresponsive Types
Hyperhomocysteinemia, Thrombotic, Cbs-Related
Cystathionine Beta-Synthase Deficiency
Cbs Deficiency
Homocystinuria Due to Cystathionine Beta-Synthase
Cystathionine Beta-Synthase Deficiency Disease
Hyperhomocysteinemia Thrombotic Cbs-Related
Thrombosis, Hyperhomocysteinemic
Homocystinuria, Cbs Deficiency
Classic Homocystinuria
Cbsd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency, also known as homocystinuria with or without response to pyridoxine, is related to homocystinuria caused by cystathionine beta-synthase deficiency and homocystinuria, and has symptoms including seizures An important gene associated with Homocystinuria Due to Cystathionine Beta-Synthase Deficiency is CBS (Cystathionine Beta-Synthase). The drugs Acetaminophen and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are failure to thrive and lens subluxation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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4
173
213

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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