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De Lange Syndrome (Cornelia De Lange Syndrome)

A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Also Known As:
Cornelia De Lange Syndrome; CdLS, X-Linked; CdLS2; Cornelia de Lange Syndrome 1; Cornelia de Lange Syndrome 2; Cornelia de Lange Syndrome 3; Cornelia de Lange Syndrome, X-Linked; De Lange's Syndrome; Typus Degenerativus Amstelodamensis; Amstelodamensis, Typus Degenerativus; Brachmann De Lange Syndrome; CdLS, X Linked; CdLSs, X-Linked; Cornelia de Lange Syndrome, X Linked; Syndrome, Brachmann-De Lange; X-Linked CdLS; X-Linked CdLSs; Brachmann-De Lange Syndrome
Networked: 186 relevant articles (2 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Retinal Telangiectasis
2. Cri-du-Chat Syndrome (5p- Syndrome)
3. Intellectual Disability (Idiocy)
4. Roberts Syndrome
5. Inborn Genetic Diseases (Disease, Hereditary)

Experts

1. Krantz, Ian D: 19 articles (01/2022 - 03/2007)
2. Deardorff, Matthew A: 15 articles (01/2022 - 03/2007)
3. Dorsett, Dale: 14 articles (01/2022 - 10/2004)
4. Selicorni, Angelo: 13 articles (02/2021 - 02/2005)
5. Musio, Antonio: 11 articles (01/2022 - 03/2007)
6. Kaiser, Frank J: 10 articles (01/2021 - 09/2012)
7. Shirahige, Katsuhiko: 10 articles (01/2019 - 02/2008)
8. Kline, Antonie D: 9 articles (01/2022 - 03/2007)
9. Massa, Valentina: 8 articles (02/2021 - 03/2016)
10. Calof, Anne L: 8 articles (01/2019 - 10/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to De Lange Syndrome:
1. Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA
2. Fluorescein (Funduscein)FDA LinkGeneric
3. AntioxidantsIBA
4. Proteins (Proteins, Gene)FDA Link
5. Histones (Histone)IBA
01/01/2023 - "In this study, peripheral blood mononuclear cells were isolated from a young male patient bearing a histone deacetyl-lase 8 (HDAC8) mutation and suffering from Cornelia de Lange Syndrome verified by clinical and genetic diagnosis. "
11/01/2019 - "Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member 4; ANKRD11: Ankyrin Repeat Domain 11; APC: Anaphase Promoter Complex; ASD: Atrial Septal Defect; ATRX: ATRX Chromatin Remodeler; ATRX: Alpha Thalassemia X-linked intellectual disability syndrome; BIRC5: Baculoviral IAP Repeat Containing 5; BMP: Bone Morphogenetic Protein; BRD4: Bromodomain Containing 4; BUB1: BUB1 Mitotic Checkpoint Serine/Threonine Kinase; CAID: Chronic Atrial and Intestinal Dysrhythmia; CDK1: Cyclin Dependent Kinase 1; CdLS: Cornelia de Lange Syndrome; CHD: Congenital Heart Disease; CHOPS: Cognitive impairment, coarse facies, Heart defects, Obesity, Pulmonary involvement, Short stature, and skeletal dysplasia; CIPO: Chronic Intestinal Pseudo-Obstruction; c-kit: KIT Proto-Oncogene Receptor Tyrosine Kinase; CoATs: Cohesin Acetyltransferases; CTCF: CCCTC-Binding Factor; DDX11: DEAD/H-Box Helicase 11; ERG: Transcriptional Regulator ERG; ESCO2: Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2; GJC1: Gap Junction Protein Gamma 1; H2A: Histone H2A; H3K4: Histone H3 Lysine 4; H3K9: Histone H3 Lysine 9; HCN4: Hyperpolarization Activated Cyclic Nucleotide Gated Potassium and Sodium Channel 4;p HDAC8: Histone deacetylases 8; HP1: Heterochromatin Protein 1; ICC: Interstitial Cells of Cajal; ICC-MP: Myenteric Plexus Interstitial cells of Cajal; ICC-DMP: Deep Muscular Plexus Interstitial cells of Cajal; If: Pacemaker Funny Current; IP3: Inositol trisphosphate; JNK: C-Jun N-Terminal Kinase; LDS: Loeys-Dietz Syndrome; LOAD: Late-Onset Alzheimer Disease; MAPK: Mitogen-Activated Protein Kinase; MAU: MAU Sister Chromatid Cohesion Factor; MFS: Marfan Syndrome; NIPBL: NIPBL, Cohesin Loading Factor; OCT4: Octamer-Binding Protein 4; P38: P38 MAP Kinase; PDA: Patent Ductus Arteriosus; PDS5: PDS5 Cohesin Associated Factor; P-H3: Phospho Histone H3; PLK1: Polo Like Kinase 1; POPDC1: Popeye Domain Containing 1; POPDC2: Popeye Domain Containing 2; PP2A: Protein Phosphatase 2; RAD21: RAD21 Cohesin Complex Component; RBS: Roberts Syndrome; REC8: REC8 Meiotic Recombination Protein; RNAP2: RNA polymerase II; SAN: Sinoatrial node; SCN5A: Sodium Voltage-Gated Channel Alpha Subunit 5; SEC: Super Elongation Complex; SGO1: Shogoshin-1; SMAD: SMAD Family Member; SMC1A: Structural Maintenance of Chromosomes 1A; SMC3: Structural Maintenance of Chromosomes 3; SNV: Single Nucleotide Variant; SOX2: SRY-Box 2; SOX17: SRY-Box 17; SSS: Sick Sinus Syndrome; STAG2: Cohesin Subunit SA-2; TADs: Topology Associated Domains; TBX: T-box transcription factors; TGF-β: Transforming Growth Factor β; TGFBR: Transforming Growth Factor β receptor; TOF: Tetralogy of Fallot; TREK1: TREK-1 K(+) Channel Subunit; VSD: Ventricular Septal Defect; WABS: Warsaw Breakage Syndrome; WAPL: WAPL Cohesin Release Factor."
6. shengjingIBA
7. chenodeoxycholate sulfate conjugate (CDCS)IBA
8. CohesinsIBA
9. Anesthetics (Anesthetic Agents)IBA
10. ChromatinIBA

Therapies and Procedures

1. Therapeutics
2. Lasers (Laser)
3. General Anesthesia
4. Herniorrhaphy
5. Airway Management