Shaheen Syndrome (SHNS)

Alias:
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Shns
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Shaheen Syndrome, also known as hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, is related to pachyonychia congenita 3. An important gene associated with Shaheen Syndrome is COG6 (Component Of Oligomeric Golgi Complex 6). Affiliated tissues include skin and prostate, and related phenotypes are intellectual disability and recurrent respiratory infections
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
3
5

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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