Cornelia De Lange Syndrome malady

NIH Rare Diseases: Cornelia de Lange syndrome (CdLS) is a developmental disorder that affects many parts of the body. The features of this disorder, including distinctive facial characteristics, growth delays, intellectual disability and limb defects, vary widely among affected individuals and range from relatively mild to severe. This condition is caused by mutations in at least three genes, including NIPBL, SMC1A, and SMC3. In about 35 percent of cases, the cause of CdLS remains unknown. Cornelia de Lange syndrome may be inherited in an autosomal dominant or X-linked pattern of inheritance. Most cases result from new gene mutations and occur in people with no history of the condition in their family.³⁰

MalaCards: Cornelia De Lange Syndrome, also known as de lange syndrome, is related to smc1a-related cornelia de lange syndrome and nipbl-related cornelia de lange syndrome. An important gene associated with Cornelia De Lange Syndrome is NIPBL (Nipped-B homolog (Drosophila)), and among its related pathways are Telomere Extension by Telomerase and Cell cycle Spindle assembly and chromosome separation. Affiliated tissues include t cells and b cells, and related mouse phenotypes are craniofacial and digestive/alimentary.

Genetics Home Reference: Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.¹⁷

Wikipedia: Cornelia de Lange Syndrome (CdLS) often termed as Bushy Syndrome and also known as Amsterdam dwarfism,...⁴⁴ more...

GeneReviews summary for cdls

Aliases & Descriptions:

cornelia de lange syndrome 6 7 15 30 16 17 8 32 de lange syndrome 15 30 16 17 cdls 15 30 16 17 brachmann-de lange syndrome 15 16 17 bdls 15 16 17

brachmann de lange syndrome 6 30 typus degenerativus amstelodamensis 30 de lange syndrome (disorder) 6 des syndrome 43

Diseases related to cornelia de lange syndrome by text searches and GeneDecks gene sharing:

(show all 16)

id	Related Disease	Score	Top Affiliating Genes
1	smc1a-related cornelia de lange syndrome	34.6	CDL2, SMC1A
2	nipbl-related cornelia de lange syndrome	34.3	NIPBL, CDL1
3	roberts syndrome	12.9	NIPBL, SMC1A, ESCO2, SMC3
4	fanconi's anemia	11.9	MRE11A, TNKS, DDX11, THPO, RAD21
5	smc3-related cornelia de lange syndrome	9.9
6	rad21-related cornelia de lange syndrome	9.5
7	congenital diaphragmatic hernia	9.0
8	hdac8-related cornelia de lange syndrome	9.0
9	hernia	9.0
10	caudal appendage deafness	5.7
11	caudal duplication	5.7
12	caudal regression syndrome	5.7
13	lattice corneal dystrophy type 1	5.7
14	de sanctis-cacchione syndrome	4.8
15	willems de vries syndrome	4.8
16	xeroderma pigmentosum	4.8

Approved drugs:

Drug clinical trials:

Genetic tests related to cornelia de lange syndrome:

id	Genetic test	Affiliating Genes
1	Cornelia De Lange Syndrome clinical/research	RAD21, SMC1A, SMC3, NIPBL, HDAC8

MalaCards organs/tissues related to cornelia de lange syndrome:

²²

MGI Mouse Phenotypes related to cornelia de lange syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	craniofacial phenotype	MP:0005382	8.6	SOX2, SHOX2, PDS5B, PDS5A, NIPBL, ESCO2
2	digestive/alimentary phenotype	MP:0005381	8.4	SOX2, SHOX2, PDS5B, PDS5A, FBXW7, GSC
3	vision/eye phenotype	MP:0005391	8.4	SOX2, PDS5B, PDS5A, NIPBL, FBXW7, GSC
4	nervous system phenotype	MP:0003631	7.8	PDS5B, PDS5A, NIPBL, DDX11, ESCO2, FBXW7
5	cardiovascular system phenotype	MP:0005385	7.6	DDX11, NIPBL, PDS5A, PDS5B, SHOX2, TNKS
6	embryogenesis phenotype	MP:0005380	7.6	LEFTY2, SOX2, PDS5B, PDS5A, DDX11, TNKS
7	mortality/aging	MP:0010768	6.7	CTCF, SMC1A, NIPBL, PDS5A, PDS5B, SHOX2

Articles related to cornelia de lange syndrome:

(show all 38)

id	Title	Authors	Year	Affiliating Genes
1	Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations. (20124326)	Park H.D.... Kim J.K.	2010	NIPBL
2	Development of NIPBL locus-specific database using LO VD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome. (20824775)	Oliveira J.... Santos R.	2010	NIPBL
3	Cornelia de Lange syndrome case due to genomic rearra ngements including NIPBL. (20727427)	Ratajska M.... Limon J.	2010	NIPBL
4	Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. (18996922)	Revenkova E.... Musio A.	2009	SMC1A, SMC3
5	SMC1A expression and mechanism of pathogenicity in probands with X- Linked Cornelia de Lange syndrome. (19701948)	Liu J.... Krantz I.D.	2009	SMC1A, SMC3, NIPBL
6	Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings. (19242925)	Chong K.... Chitayat D.	2009	NIPBL
7	Premature chromatid separation is not a useful diagno stic marker for Cornelia de Lange syndrome. (19690971)	Castronovo P.... Larizza L.	2009	SMC1A, SMC3
8	Clinical problems and everyday abilities of a group o f Italian adolescent and young adults with Cornelia de Lange syndrome. (19876900)	Olioso G.... Selicorni A.	2009	NIPBL
9	Cornelia de Lange syndrome, cohesin, and beyond. (19793304)	Liu J.... Krantz I.D.	2009	SMC3, NIPBL
10	Cornelia de Lange syndrome: a case study. (19309268)	Kalal G.I.... Gupta B.V.	2009	NIPBL
11	Cornelia de lange syndrome: a recognizable fetal phen otype. (19816032)	Wilmink F.A.... Wessels M.W.	2009	NIPBL
12	Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndrome. (18470924)	Baynam G.... Walpole I.	2008	TNKS
13	Cornelia de Lange syndrome: description of the orofac ial features and case report. (19886366)	Guadagni M.G.... Piana G.	2008	NIPBL
14	Prenatal/neonatal pathology in two cases of Cornelia de Lange syndrome harboring novel mutations of NIPBL. (17413424)	Lalatta F.... Larizza L.	2007	NIPBL
15	Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations. (17221863)	Borck G.... Colleaux L.	2007	SMC1A, NIPBL
16	Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. (17106445)	Schoumans J.... Anderlid B.M.	2007	SMC1A, NIPBL
17	Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation. (17273969)	Deardorff M.A.... Krantz I.D.	2007	SMC1A, SMC3, ESCO2
18	Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange syndrome. (17264868)	Bhuiyan Z.A.... Hennekam R.C.	2007	NIPBL
19	Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation. (17661813)	Selicorni A.... Larizza L.	2007	NIPBL
20	Increased DNA damage sensitivity of Cornelia de Lange syndrome cells: evidence for impaired recombinational repair. (17468178)	Vrouwe M.G.... Darroudi F.	2007	NIPBL
21	Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene. (16799922)	Borck G.... Colleaux L.	2006	NIPBL
22	X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. (16604071)	Musio A.... Larizza L.	2006	SMC1A, NIPBL
23	Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study. (16606884)	Nallasamy S.... Young T.L.	2006	NIPBL
24	A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings. (16865217)	Bhuiyan Z.A.... Hennekam R.C.	2006	NIPBL
25	Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome. (16770807)	Yan J.... Wierzba J.	2006	NIPBL
26	Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience. (16236812)	Bhuiyan Z.A.... Hennekam R.C.	2006	NIPBL
27	Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome. (16958143)	Niu D.M.... Kosaki K.	2006	NIPBL
28	Cornelia de Lange Syndrome and the link between chromosomal function, DNA repair and developmental gene regulation. (15917200)	Strachan T.	2005	MRE11A, SMC1A, FBXW7
29	Ophthalmologic findings in the Cornelia de Lange Syndrome. (16213388)	Wygnanski-Jaffe T.... Levin A.V.	2005	NIPBL
30	NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. (15146185)	Tonkin E.T.... Strachan T.	2004	NIPBL
31	NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. (15318302)	Gillis L.A.... Krantz I.D.	2004	NIPBL
32	NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome. (15591270)	Borck G.... Cormier-Daire V.	2004	NIPBL
33	NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder. (15373324)	Ben-Asher E.... Lancet D.	2004	NIPBL
34	Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. (15146186)	Krantz I.D.... Jackson L.G.	2004	NIPBL
35	Exclusion of linkage to the CDL1 gene region on chrom osome 3q26.3 in some familial cases of Cornelia de Lange syndrome. (11391654)	Krantz I.D.... Jackson L.	2001	NIPBL, CDL1
36	Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. (10480362)	Smith M.... Strachan T.	1999	THPO, CLCN2, SOX2
37	Cornelia de Lange Syndrome (20301283)	Deardorff M.A.... Krantz I.D.	1993	SMC1A, SMC3, NIPBL
38	A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. (1956066)	Ireland M.... Burn J.	1991	CDL1

Genes related to cornelia de lange syndrome according to GeneCards:

(show all 34)

id	Symbol	Description	Score	GeneCards Section Context
1	NIPBL	Nipped-B homolog (Drosophila)	11.1	Publications, Summaries, Orthologs, Disorders
2	SHOX2	short stature homeobox 2	11.1	Disorders, Summaries
3	CDL2	Cornelia de Lange syndrome 2	11.1	Aliases & Descriptions
4	CDL1	Cornelia de Lange syndrome 1	11.1	Aliases & Descriptions, Publications
5	SMC1A	structural maintenance of chromosomes 1A	11.1	Disorders, Publications
6	SMC3	structural maintenance of chromosomes 3	11.1	Publications, Disorders
7	PAPPA	pregnancy-associated plasma protein A, pappalysin 1	11.1	Disorders
8	DDX11L8	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 8	11.0	Disorders
9	GSC	goosecoid homeobox	11.0	Publications
10	LEFTY2	left-right determination factor 2	11.0	Disorders
11	MRPS22	mitochondrial ribosomal protein S22	11.0	Disorders
12	MAU2	MAU2 chromatid cohesion factor homolog (C. elegans)	11.0
13	CLCN2	chloride channel, voltage-sensitive 2	11.0	Publications
14	CHRD	chordin	11.0	Publications
15	ESCO2	establishment of cohesion 1 homolog 2 (S. cerevisiae)	11.0	Publications, Disorders
16	SOX2	SRY (sex determining region Y)-box 2	11.0	Publications
17	DDX11	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	11.0
18	ESCO1	establishment of cohesion 1 homolog 1 (S. cerevisiae)	11.0	Disorders
19	STAG2	stromal antigen 2	11.0	Publications
20	CHAF1A	chromatin assembly factor 1, subunit A (p150)	11.0	Disorders
21	CTCF	CCCTC-binding factor (zinc finger protein)	11.0	Disorders
22	THPO	thrombopoietin	11.0	Publications
23	RAD21	RAD21 homolog (S. pombe)	11.0
24	PCDH11Y	protocadherin 11 Y-linked	11.0	Disorders
25	PDS5A	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	11.0	Disorders
26	PDS5B	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	11.0	Disorders
27	FBXW7	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	11.0	Publications
28	MRE11A	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	11.0	Publications
29	TNKS	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	11.0	Publications
30	SMC2	structural maintenance of chromosomes 2	11.0	Disorders
31	PCDH11X	protocadherin 11 X-linked	11.0	Disorders
32	FAM19A2	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	11.0	Disorders
33	STAG1	stromal antigen 1	11.0	Disorders
34	NAALADL2	N-acetylated alpha-linked acidic dipeptidase-like 2	11.0	Disorders, UniProt Related

Pathways related to cornelia de lange syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Telomere Extension by Telomerase36	9.7	MRE11A, TNKS
2	Cell cycle Spindle assembly and chromosome separation10	9.0	STAG2, STAG1, SMC3, SMC1A, RAD21
3	Cell cycle_Spindle assembly and chromosome separation41	9.0	STAG2, STAG1, SMC3, SMC1A, RAD21
4	Chromatin Regulation / Acetylation3	8.9	RAD21, CHAF1A, CTCF, SMC1A, SMC2, SMC3
5	Cell Cycle / Checkpoint Control3	8.9	STAG2, SMC3, SMC2, SMC1A, MRE11A, RAD21
6	Cell cycle20	8.8	STAG2, STAG1, SMC3, SMC1A, RAD21
7	Cell Cycle, Mitotic38	8.6	RAD21, SMC1A, SMC3, STAG1, STAG2

Cellular components related to cornelia de lange syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	meiotic cohesin complex	GO:030893	10.2	SMC1A, SMC3
2	SMC loading complex	GO:032116	10.2	NIPBL, MAU2
3	cohesin complex	GO:008278	9.8	RAD21, SMC3
4	chromosome, centromeric region	GO:000775	8.5	STAG2, STAG1, SMC3, CTCF, TNKS, RAD21
5	chromatin	GO:000785	8.3	MAU2, STAG2, STAG1, PDS5B, PDS5A, SMC3
6	nucleoplasm	GO:005654	7.6	STAG2, STAG1, SMC3, SMC1A, CTCF, DDX11
7	nucleus	GO:005634	5.8	SMC3, NIPBL, PDS5A, PDS5B, SHOX2, STAG1

Biological processes related to cornelia de lange syndrome according to GeneDecks:

(show all 17)

id	Name	GO ID	Score	Top Affiliating Genes
1	maintenance of mitotic sister chromatid cohesion	GO:034088	10.3	MAU2, NIPBL
2	post-translational protein acetylation	GO:034421	10.2	ESCO1, ESCO2
3	mitotic sister chromatid cohesion	GO:007064	10.2	PDS5B, NIPBL, SMC1A
4	regulation of DNA replication	GO:006275	10.2	ESCO1, ESCO2, SMC3
5	mitotic spindle organization	GO:007052	10.0	SMC3, SMC1A, TNKS
6	forebrain development	GO:030900	10.0	CHRD, GSC, SOX2
7	meiosis	GO:007126	9.9	STAG2, SMC3, SMC1A
8	negative regulation of DNA endoreduplication	GO:032876	9.6	STAG2, SMC3, SMC1A, FBXW7, MRE11A
9	DNA recombination	GO:006310	9.4	SMC2, SMC1A, MRE11A, RAD21
10	DNA repair	GO:006281	9.2	SMC3, SMC2, SMC1A, MRE11A, CHAF1A
11	mitotic metaphase/anaphase transition	GO:007091	9.2	STAG2, STAG1, SMC3, SMC1A, RAD21
12	mitotic prometaphase	GO:000236	9.2	RAD21, SMC1A, SMC3, STAG1, STAG2
13	chromosome segregation	GO:007059	9.1	RAD21, CTCF, STAG1
14	M phase of mitotic cell cycle	GO:000087	9.1	STAG2, STAG1, SMC3, SMC1A, RAD21
15	sister chromatid cohesion	GO:007062	8.9	MRE11A, FBXW7, DDX11, SMC1A, SMC2, SMC3
16	mitotic cell cycle	GO:000278	8.6	STAG2, STAG1, SMC3, SMC1A, RAD21
17	cell division	GO:051301	7.5	STAG2, STAG1, PDS5B, PDS5A, SMC3, SMC2

Molecular functions related to cornelia de lange syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	chromo shadow domain binding	GO:070087	10.1	CHAF1A, NIPBL
2	protein binding	GO:005515	5.1	RAD21, SOX2, STAG2, STAG1, PDS5B, PDS5A