Alstrom Syndrome (ALMS)

Alias:
Alström Syndrome
Alms
Alstrom-Hallgren Syndrome
Alstrom's Syndrome
Alstroem Syndrome
Alss
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alstrom Syndrome, also known as alström syndrome, is related to fundus dystrophy and polydactyly. An important gene associated with Alstrom Syndrome is ALMS1 (ALMS1 Centrosome And Basal Body Associated Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Liver Extracts and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include liver and eye, and related phenotypes are nystagmus and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
25
171
138

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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