Sjogren-Larsson Syndrome (SLS)

Alias:
Sjögren-Larsson Syndrome
Fatty Acid Alcohol Oxidoreductase Deficiency
Sls
Faldh Deficiency
Fatty Aldehyde Dehydrogenase Deficiency
Congenital Icthyosis Mental Retardation Spasticity Syndrome
Ichthyosis, Spastic Neurologic Disorder, and Oligophrenia
Fatty Alcohol:nad+ Oxidoreductase Deficiency
Ichthyosis Oligophrenia Syndrome
Sjogren-Larsson's Syndrome
Sjoegren-Larsson Syndrome
Sjogren Larsson Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sjogren-Larsson Syndrome, also known as sjögren-larsson syndrome, is related to spastic cerebral palsy and paraplegia, and has symptoms including muscle spasticity, seizures and photophobia. An important gene associated with Sjogren-Larsson Syndrome is ALDH3A2 (Aldehyde Dehydrogenase 3 Family Member A2), and among its related pathways/superpathways are Metabolism and Cyclophosphamide Pathway, Pharmacodynamics. Affiliated tissues include skin and eye, and related phenotypes are intellectual disability and spasticity
Related ID:
MESH:D016111
ICD11:418359090

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
17
113
71

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
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IF
No Data Found!
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