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Serine Deficiency

Alias:
Serine Biosynthesis Disorders
Serine Deficiency Disorders
Serine Synthesis Disorders
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Serine Deficiency, also known as serine biosynthesis disorders, is related to neu-laxova syndrome 1 and neu-laxova syndrome 2. An important gene associated with Serine Deficiency is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include spinal cord and brain, and related phenotype is vision/eye.
Related ID：
MALACARDS：SRN001

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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20
118
24
SRN001

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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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
No Data Found!
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