Cornelia De Lange Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CRN209 MIFTS: 23	Cornelia De Lange Syndrome 5 Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Cornelia De Lange Syndrome 5

MalaCards integrated aliases for Cornelia De Lange Syndrome 5:

Name: Cornelia De Lange Syndrome 5 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Cdls5 ⁵⁷ ⁷⁵

Cornelia De Lange Syndrome, Type 5 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Miscellaneous:
variable severity
females may be unaffected or mildly affected

Inheritance:
x-linked dominant

HPO:

³²

cornelia de lange syndrome 5:
Onset and clinical course variable expressivity
Inheritance x-linked inheritance x-linked dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Muscle diseases Neuronal diseases Eye diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 300882

MedGen ⁴² C3550903 CN159225

MeSH ⁴⁴ D003635

SNOMED-CT via HPO ⁶⁹ 204878001 34911001 48130008 more

UMLS ⁷³ C3550903

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Summaries for Cornelia De Lange Syndrome 5

OMIM : ⁵⁷ Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (300040) (CDLS2; 300590) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. (300882)

MalaCards based summary : Cornelia De Lange Syndrome 5, is also known as cdls5. An important gene associated with Cornelia De Lange Syndrome 5 is HDAC8 (Histone Deacetylase 8). Affiliated tissues include eye and testes, and related phenotypes are hypertelorism and short neck

UniProtKB/Swiss-Prot : ⁷⁵ Cornelia de Lange syndrome 5: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

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Related Diseases for Cornelia De Lange Syndrome 5

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1	Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5	Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 4

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Symptoms & Phenotypes for Cornelia De Lange Syndrome 5

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Eyes:
hypertelorism
ptosis
myopia
telecanthus
long eyelashes
more

Neurologic Central Nervous System:
intellectual disability
mental retardation (in males)
learning disabilities (in females)

Head And Neck Nose:
depressed nasal bridge
broad nasal tip
anteverted nostrils
long columella

Head And Neck Head:
brachycephaly
small head circumference

Head And Neck Face:
long philtrum
micrognathia
retrognathia

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Skin Nails Hair Skin:
cutis marmorata
nevus flammus

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
hearing loss (in some patients)

Growth Height:
short stature (family h)

Genitourinary External Genitalia Male:
small penis (family h)

Endocrine Features:
hypogonadism (family h)

Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems

Head And Neck Mouth:
cleft palate
high-arched palate
downturned corners of the mouth

Growth Other:
postnatal growth retardation

Skeletal Feet:
toe syndactyly
small feet

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
behavioral disorders

Skeletal Hands:
small hands

Skeletal Skull:
delayed closure of the fontanels

Growth Weight:
truncal obesity (family h)

GenitourinaryInternal GenitaliaMale:
small testes (family h)
cryptorchidism (family h)

Clinical features from OMIM:

300882

Human phenotypes related to Cornelia De Lange Syndrome 5:

³² (show all 48)

#	Description	HPO Frequency	HPO Source Accession
1	hypertelorism ³²		HP:0000316
2	short neck ³²		HP:0000470
3	high palate ³²	very rare (1%)	HP:0000218
4	ptosis ³²	very rare (1%)	HP:0000508
5	intellectual disability ³²		HP:0001249
6	seizures ³²		HP:0001250
7	hearing impairment ³²	occasional (7.5%)	HP:0000365
8	widely spaced teeth ³²		HP:0000687
9	global developmental delay ³²	very rare (1%)	HP:0001263
10	depressed nasal bridge ³²		HP:0005280
11	microcephaly ³²		HP:0000252
12	anteverted nares ³²	very rare (1%)	HP:0000463
13	short stature ³²		HP:0004322
14	gastroesophageal reflux ³²		HP:0002020
15	feeding difficulties in infancy ³²	very rare (1%)	HP:0008872
16	brachycephaly ³²	very rare (1%)	HP:0000248
17	cleft palate ³²		HP:0000175
18	long philtrum ³²	very rare (1%)	HP:0000343
19	micrognathia ³²	very rare (1%)	HP:0000347
20	retrognathia ³²		HP:0000278
21	short foot ³²	very rare (1%)	HP:0001773
22	cryptorchidism ³²		HP:0000028
23	postnatal growth retardation ³²		HP:0008897
24	myopia ³²		HP:0000545
25	ventriculomegaly ³²	very rare (1%)	HP:0002119
26	hypogonadism ³²		HP:0000135
27	prominent nasal bridge ³²	very rare (1%)	HP:0000426
28	telecanthus ³²		HP:0000506
29	deeply set eye ³²		HP:0000490
30	clinodactyly of the 5th finger ³²	very rare (1%)	HP:0004209
31	decreased testicular size ³²		HP:0008734
32	small hand ³²	very rare (1%)	HP:0200055
33	downturned corners of mouth ³²	very rare (1%)	HP:0002714
34	broad nasal tip ³²		HP:0000455
35	low anterior hairline ³²	very rare (1%)	HP:0000294
36	highly arched eyebrow ³²	very rare (1%)	HP:0002553
37	thin vermilion border ³²	very rare (1%)	HP:0000233
38	long eyelashes ³²	very rare (1%)	HP:0000527
39	toe syndactyly ³²		HP:0001770
40	synophrys ³²	very rare (1%)	HP:0000664
41	proximal placement of thumb ³²	very rare (1%)	HP:0009623
42	cutis marmorata ³²	very rare (1%)	HP:0000965
43	truncal obesity ³²		HP:0001956
44	micropenis ³²		HP:0000054
45	generalized hypotonia ³²		HP:0001290
46	limited elbow extension ³²	very rare (1%)	HP:0001377
47	hirsutism ³²	very rare (1%)	HP:0001007
48	happy demeanor ³²		HP:0040082

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Drugs & Therapeutics for Cornelia De Lange Syndrome 5

Search Clinical Trials , NIH Clinical Center for Cornelia De Lange Syndrome 5

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Genetic Tests for Cornelia De Lange Syndrome 5

Genetic tests related to Cornelia De Lange Syndrome 5:

#	Genetic test	Affiliating Genes
1	Cornelia De Lange Syndrome 5 ²⁹	HDAC8

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Anatomical Context for Cornelia De Lange Syndrome 5

MalaCards organs/tissues related to Cornelia De Lange Syndrome 5:

⁴¹

Eye, Testes

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Publications for Cornelia De Lange Syndrome 5

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Genes for Cornelia De Lange Syndrome 5

Genes related to Cornelia De Lange Syndrome 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	HDAC8	Histone Deacetylase 8	Protein Coding	1330	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22885700 20301283 22889856

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Variations for Cornelia De Lange Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 5:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	HDAC8	p.His180Arg	VAR_069140	rs397515416
2	HDAC8	p.Thr311Met	VAR_069141	rs397515417
3	HDAC8	p.Gly320Arg	VAR_069142	rs398122909
4	HDAC8	p.His334Arg	VAR_069143	rs397515418

ClinVar genetic disease variations for Cornelia De Lange Syndrome 5:

⁶

(show all 48)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	HDAC8	NM_018486.2(HDAC8): c.164+5G> A	single nucleotide variant	Pathogenic	rs398122888	GRCh37	Chromosome X, 71791902: 71791902
2	HDAC8	NM_018486.2(HDAC8): c.164+5G> A	single nucleotide variant	Pathogenic	rs398122888	GRCh38	Chromosome X, 72572052: 72572052
3	HDAC8	NM_018486.2(HDAC8): c.490C> T (p.Arg164Ter)	single nucleotide variant	Pathogenic	rs397515415	GRCh37	Chromosome X, 71715066: 71715066
4	HDAC8	NM_018486.2(HDAC8): c.490C> T (p.Arg164Ter)	single nucleotide variant	Pathogenic	rs397515415	GRCh38	Chromosome X, 72495216: 72495216
5	HDAC8	NM_018486.2(HDAC8): c.539A> G (p.His180Arg)	single nucleotide variant	Pathogenic	rs397515416	GRCh37	Chromosome X, 71715017: 71715017
6	HDAC8	NM_018486.2(HDAC8): c.539A> G (p.His180Arg)	single nucleotide variant	Pathogenic	rs397515416	GRCh38	Chromosome X, 72495167: 72495167
7	HDAC8	NM_018486.2(HDAC8): c.932C> T (p.Thr311Met)	single nucleotide variant	Pathogenic	rs397515417	GRCh37	Chromosome X, 71681927: 71681927
8	HDAC8	NM_018486.2(HDAC8): c.932C> T (p.Thr311Met)	single nucleotide variant	Pathogenic	rs397515417	GRCh38	Chromosome X, 72462077: 72462077
9	HDAC8	NM_018486.2(HDAC8): c.1001A> G (p.His334Arg)	single nucleotide variant	Pathogenic	rs397515418	GRCh37	Chromosome X, 71681858: 71681858
10	HDAC8	NM_018486.2(HDAC8): c.1001A> G (p.His334Arg)	single nucleotide variant	Pathogenic	rs397515418	GRCh38	Chromosome X, 72462008: 72462008
11	HDAC8	NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met)	single nucleotide variant	Pathogenic	rs587779380	GRCh37	Chromosome X, 71787820: 71787820
12	HDAC8	NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met)	single nucleotide variant	Pathogenic	rs587779380	GRCh38	Chromosome X, 72567970: 72567970
13	HDAC8	NM_018486.2(HDAC8): c.421_423delTGG (p.Trp141del)	deletion	Uncertain significance	rs587783664	GRCh37	Chromosome X, 71787753: 71787755
14	HDAC8	NM_018486.2(HDAC8): c.421_423delTGG (p.Trp141del)	deletion	Uncertain significance	rs587783664	GRCh38	Chromosome X, 72567903: 72567905
15	HDAC8	NM_018486.2(HDAC8): c.131delT (p.Leu44Terfs)	deletion	Pathogenic	rs587783663	GRCh37	Chromosome X, 71791940: 71791940
16	HDAC8	NM_018486.2(HDAC8): c.131delT (p.Leu44Terfs)	deletion	Pathogenic	rs587783663	GRCh38	Chromosome X, 72572090: 72572090
17	HDAC8	NM_018486.2(HDAC8): c.24G> A (p.Ala8=)	single nucleotide variant	Uncertain significance	rs61736843	GRCh37	Chromosome X, 71792588: 71792588
18	HDAC8	NM_018486.2(HDAC8): c.24G> A (p.Ala8=)	single nucleotide variant	Uncertain significance	rs61736843	GRCh38	Chromosome X, 72572738: 72572738
19	HDAC8	NM_018486.2(HDAC8): c.-5G> T	single nucleotide variant	Uncertain significance	rs587783662	GRCh37	Chromosome X, 71792616: 71792616
20	HDAC8	NM_018486.2(HDAC8): c.-5G> T	single nucleotide variant	Uncertain significance	rs587783662	GRCh38	Chromosome X, 72572766: 72572766
21	HDAC8	NC_000023.10: g.71681853_72434328del752476	deletion	Pathogenic		GRCh37	Chromosome X, 71681853: 72434328
22	HDAC8	NM_018486.2(HDAC8): c.770C> A (p.Pro257His)	single nucleotide variant	Likely pathogenic	rs797045613	GRCh38	Chromosome X, 72464699: 72464699
23	HDAC8	NM_018486.2(HDAC8): c.770C> A (p.Pro257His)	single nucleotide variant	Likely pathogenic	rs797045613	GRCh37	Chromosome X, 71684549: 71684549
24	HDAC8	NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys)	single nucleotide variant	Likely pathogenic	rs797045612	GRCh38	Chromosome X, 72491001: 72491001
25	HDAC8	NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys)	single nucleotide variant	Likely pathogenic	rs797045612	GRCh37	Chromosome X, 71710851: 71710851
26	HDAC8	NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter)	single nucleotide variant	Pathogenic	rs797045611	GRCh38	Chromosome X, 72568820: 72568820
27	HDAC8	NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter)	single nucleotide variant	Pathogenic	rs797045611	GRCh37	Chromosome X, 71788670: 71788670
28	HDAC8	NM_018486.2(HDAC8): c.134_137delTTGA (p.Ile45Lysfs)	deletion	Pathogenic	rs797045610	GRCh37	Chromosome X, 71791934: 71791937
29	HDAC8	NM_018486.2(HDAC8): c.134_137delTTGA (p.Ile45Lysfs)	deletion	Pathogenic	rs797045610	GRCh38	Chromosome X, 72572084: 72572087
30	HDAC8	NM_018486.2(HDAC8): c.1006-2A> G	single nucleotide variant	Likely pathogenic	rs863224877	GRCh38	Chromosome X, 72351840: 72351840
31	HDAC8	NM_018486.2(HDAC8): c.1006-2A> G	single nucleotide variant	Likely pathogenic	rs863224877	GRCh37	Chromosome X, 71571690: 71571690
32	HDAC8	NM_018486.2(HDAC8): c.737+1G> A	single nucleotide variant	Likely pathogenic	rs869312660	GRCh37	Chromosome X, 71708782: 71708782
33	HDAC8	NM_018486.2(HDAC8): c.737+1G> A	single nucleotide variant	Likely pathogenic	rs869312660	GRCh38	Chromosome X, 72488932: 72488932
34	HDAC8	NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer)	indel	Likely pathogenic	rs1057516037	GRCh38	Chromosome X, 72464626: 72464630
35	HDAC8	NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer)	indel	Likely pathogenic	rs1057516037	GRCh37	Chromosome X, 71684476: 71684480
36	HDAC8	NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly)	single nucleotide variant	Likely pathogenic	rs1057518727	GRCh37	Chromosome X, 71715029: 71715029
37	HDAC8	NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly)	single nucleotide variant	Likely pathogenic	rs1057518727	GRCh38	Chromosome X, 72495179: 72495179
38	HDAC8	NM_018486.2(HDAC8): c.1112-2A> G	single nucleotide variant	Uncertain significance	rs1131690790	GRCh37	Chromosome X, 71549928: 71549928
39	HDAC8	NM_018486.2(HDAC8): c.1112-2A> G	single nucleotide variant	Uncertain significance	rs1131690790	GRCh38	Chromosome X, 72330078: 72330078
40	HDAC8	NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome X, 71571613: 71571613
41	HDAC8	NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome X, 72351763: 72351763
42	HDAC8	NM_018486.2(HDAC8): c.522C> A (p.Tyr174Ter)	single nucleotide variant	Pathogenic	rs146015223	GRCh38	Chromosome X, 72495184: 72495184
43	HDAC8	NM_018486.2(HDAC8): c.522C> A (p.Tyr174Ter)	single nucleotide variant	Pathogenic	rs146015223	GRCh37	Chromosome X, 71715034: 71715034
44	HDAC8	NM_018486.2(HDAC8): c.1019A> C (p.Tyr340Ser)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome X, 71571675: 71571675
45	HDAC8	NM_018486.2(HDAC8): c.1019A> C (p.Tyr340Ser)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome X, 72351825: 72351825
46	HDAC8	NC_000023.10: g.(?_71681834)_(71715138_?)dup	duplication	Likely pathogenic		GRCh37	Chromosome X, 71681834: 71715138
47	HDAC8	NM_018486.2(HDAC8): c.104_105delCC (p.Pro35Glnfs)	deletion	Pathogenic		GRCh37	Chromosome X, 71792507: 71792508
48	HDAC8	NM_018486.2(HDAC8): c.104_105delCC (p.Pro35Glnfs)	deletion	Pathogenic		GRCh38	Chromosome X, 72572657: 72572658

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Expression for Cornelia De Lange Syndrome 5

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 5.

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Pathways for Cornelia De Lange Syndrome 5

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GO Terms for Cornelia De Lange Syndrome 5

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