Nicolaides-Baraitser Syndrome (NCBRS)

Alias:
Ncbrs
Nbs
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome
Sparse Hair-Impaired Intellectual Development Syndrome
Nicolaides Baraitser Syndrome
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nicolaides-Baraitser Syndrome, also known as ncbrs, is related to clark-baraitser syndrome and familial isolated trichomegaly. An important gene associated with Nicolaides-Baraitser Syndrome is SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2), and among its related pathways/superpathways are Thermogenesis and Transcription Ligand-dependent activation of the ESR1/SP pathway. Affiliated tissues include skin and testes, and related phenotypes are intellectual disability and aphasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
4
42
18

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top