Neu-Laxova Syndrome 1 (NLS1)

Alias:
Neu-Laxova Syndrome
Nls1
Neu Laxova Syndrome
Nls
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neu-Laxova Syndrome 1, also known as neu-laxova syndrome, is related to neu-laxova syndrome 2 and ectropion. An important gene associated with Neu-Laxova Syndrome 1 is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and glycolysis (BioCyc). Affiliated tissues include skin and placenta, and related phenotypes are thick vermilion border and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
5
29
25

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

Name
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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