Blepharocheilodontic Syndrome 1 (BCDS1)

Alias:
Blepharocheilodontic Syndrome
Elschnig Syndrome
Bcd Syndrome
Blepharo-Cheilo-Odontic Syndrome
Ectropion, Inferior, with Cleft Lip and/or Palate
Lagophthalmia with Bilateral Cleft Lip and Palate
Clefting, Ectropion, and Conical Teeth
Blepharo-Cheilo-Dontic Syndrome
Bcds
Ectropion Inferior-Cleft Lip and/or Palate Syndrome
Lagophthalmia-Cleft Lip and Palate Syndrome
Clefting-Ectropion-Conical Teeth Syndrome
Bcds1
Blepharocheilodontic Syndrome, Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blepharocheilodontic Syndrome 1, also known as blepharocheilodontic syndrome, is related to blepharocheilodontic syndrome 2 and euryblepharon. An important gene associated with Blepharocheilodontic Syndrome 1 is CDH1 (Cadherin 1), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye and thyroid, and related phenotypes are abnormal eyelid morphology and distichiasis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
13
73
15

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
No Data Found!
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