Galloway-Mowat Syndrome 5 (GAMOS5)

Alias:
Gamos5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Galloway-Mowat Syndrome 5, also known as gamos5, is related to rare autosomal recessive non-syndromic sensorineural deafness type dfnb and mitochondrial dna depletion syndrome 4a. An important gene associated with Galloway-Mowat Syndrome 5 is TPRKB (TP53RK Binding Protein). Affiliated tissues include brain and kidney, and related phenotypes are intellectual disability and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
20
1

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
No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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