Cornelia De Lange Syndrome (BDLS)

Alias:
Brachmann-De Lange Syndrome
De Lange Syndrome
Brachmann De Lange Syndrome
Cdls
Bdls
Typus Degenerativus Amstelodamensis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cornelia De Lange Syndrome, also known as brachmann-de lange syndrome, is related to cornelia de lange syndrome 1 and cornelia de lange syndrome 3 with or without midline brain defects. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and high palate
Related ID:
MESH:D003635

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
XL
Antenatal
1-9/100000
85
568
112

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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