Cornelia de Lange syndrome

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Information
Disease name
Cornelia de Lange syndrome
Disease ID
DOID:11725
Description
"A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features." [url:http\://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome, url:http\://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome, url:http\://www.omim.org/entry/122470, url:http\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
NIPBL 5 36,876,769 37,066,413 206
SMC1A X 53,374,149 53,422,654 2
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT04381897 Not yet recruiting Phase 2 Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome September 1, 2024 May 1, 2026
NCT01793168 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford July 2010 December 2100
NCT04463316 Recruiting GROWing Up With Rare GENEtic Syndromes October 1, 2018 January 1, 2030
NCT05829668 Recruiting N/A Behavioral Assessment and Treatment of Problem Behavior in Children With Cornelia de Lange Syndrome August 2, 2023 June 25, 2026
NCT03113877 Terminated Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) August 2016 September 1, 2017
Disase is a (Disease Ontology)
DOID:225
Cross Reference ID (Disease Ontology)
GARD:10109
Cross Reference ID (Disease Ontology)
ICD10CM:Q87.19
Cross Reference ID (Disease Ontology)
MESH:D003635
Cross Reference ID (Disease Ontology)
MIM:PS122470
Cross Reference ID (Disease Ontology)
NCI:C75016
Cross Reference ID (Disease Ontology)
ORDO:199
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:40354009
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0270972
Exact Synonym (Disease Ontology)
Brachmann de Lange syndrome
Exact Synonym (Disease Ontology)
De Lange syndrome
OMIM Phenotype Series Number (OMIM)
PS122470
OrphaNumber from OrphaNet (Orphanet)
199