Nance-Horan Syndrome (NHS)

Alias:
Cataract-Dental Syndrome
Nhs
Cataract, X-Linked, with Hutchinsonian Teeth
Mesiodens-Cataract Syndrome
Cataract Dental Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to cataract 28 and cataract 40. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways is 1q21.1 copy number variation syndrome. Affiliated tissues include eye and brain, and related phenotypes are nystagmus and cataract
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
--
19
144
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
Year
IF
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