Barber-Say Syndrome (BBRSAY)

Alias:
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia
Barber Say Syndrome
Bbrsay
Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Barber-Say Syndrome, also known as hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, is related to bernard-soulier syndrome and brooke-spiegler syndrome, and has symptoms including dry skin An important gene associated with Barber-Say Syndrome is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
<1/1000000
9
30
16

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

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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
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IF
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