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

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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 ¹¹ ⁷³ ²⁸ ⁵ ¹⁴ ⁷¹

Cdls5 ⁵⁷ ⁷³

Cornelia De Lange Syndrome, Type 5 ³⁸

Characteristics:

Inheritance:

X-linked dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
variable severity
females may be unaffected or mildly affected

HPO:

³⁰

cornelia de lange syndrome 5:
Onset and clinical course variable expressivity

Classifications:

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

See all MalaCards categories (disease lists)

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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) (Updated 08-Dec-2022)

MalaCards based summary: Cornelia De Lange Syndrome 5, also known as cdls5, is related to cornelia de lange syndrome and cornelia de lange syndrome 1. An important gene associated with Cornelia De Lange Syndrome 5 is HDAC8 (Histone Deacetylase 8), and among its related pathways/superpathways is Chromatin organization. Affiliated tissues include heart, testes and eye, and related phenotypes are hearing impairment and ptosis

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A Cornelia de Lange syndrome that has material basis in by mutation in the HDAC8 gene on chromosome Xq13.

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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

Diseases related to Cornelia De Lange Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	cornelia de lange syndrome	30.3	NSD1 HDAC8
2	cornelia de lange syndrome 1	30.2	NSD1 HDAC8
3	eyelid disease	9.9	KAT6B HDAC8
4	kbg syndrome	9.9	KAT6B HDAC8
5	sotos syndrome	9.8	NSD1 NFIX
6	sotos syndrome 3	9.8	NSD1 NFIX
7	kabuki syndrome 1	9.8	NSD1 KAT6B
8	atrial heart septal defect	9.8	NSD1 HDAC8
9	marshall-smith syndrome	9.8	NSD1 NFIX
10	laryngomalacia	9.7	NFIX KAT6B
11	weaver syndrome	9.7	NSD1 NFIX
12	hypertelorism	9.6	NSD1 KAT6B HDAC8
13	chromosome 16p13.3 deletion syndrome, proximal	9.6	NSD1 KAT6B HDAC8
14	cryptorchidism, unilateral or bilateral	9.6	NSD1 KAT6B
15	sotos syndrome 2	9.5	TMTC4 NSD1 NFIX
16	sotos syndrome 1	9.5	TMTC4 NSD1 NFIX
17	congenital nervous system abnormality	9.5	NSD1 KAT6B HDAC8
18	scoliosis	9.4	NSD1 NFIX KAT6B

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 5:

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Symptoms & Phenotypes for Cornelia De Lange Syndrome 5

Human phenotypes related to Cornelia De Lange Syndrome 5:

³⁰ (show all 49)

#	Description	HPO Frequency	HPO Source Accession
1	hearing impairment ³⁰	Occasional (7.5%)	HP:0000365
2	ptosis ³⁰	Very rare (1%)	HP:0000508
3	high palate ³⁰	Very rare (1%)	HP:0000218
4	global developmental delay ³⁰	Very rare (1%)	HP:0001263
5	anteverted nares ³⁰	Very rare (1%)	HP:0000463
6	feeding difficulties in infancy ³⁰	Very rare (1%)	HP:0008872
7	brachycephaly ³⁰	Very rare (1%)	HP:0000248
8	micrognathia ³⁰	Very rare (1%)	HP:0000347
9	downturned corners of mouth ³⁰	Very rare (1%)	HP:0002714
10	clinodactyly of the 5th finger ³⁰	Very rare (1%)	HP:0004209
11	highly arched eyebrow ³⁰	Very rare (1%)	HP:0002553
12	long philtrum ³⁰	Very rare (1%)	HP:0000343
13	ventriculomegaly ³⁰	Very rare (1%)	HP:0002119
14	low anterior hairline ³⁰	Very rare (1%)	HP:0000294
15	prominent nasal bridge ³⁰	Very rare (1%)	HP:0000426
16	small hand ³⁰	Very rare (1%)	HP:0200055
17	thin vermilion border ³⁰	Very rare (1%)	HP:0000233
18	proximal placement of thumb ³⁰	Very rare (1%)	HP:0009623
19	synophrys ³⁰	Very rare (1%)	HP:0000664
20	short foot ³⁰	Very rare (1%)	HP:0001773
21	cutis marmorata ³⁰	Very rare (1%)	HP:0000965
22	long eyelashes ³⁰	Very rare (1%)	HP:0000527
23	hirsutism ³⁰	Very rare (1%)	HP:0001007
24	limited elbow extension ³⁰	Very rare (1%)	HP:0001377
25	intellectual disability ³⁰		HP:0001249
26	seizure ³⁰		HP:0001250
27	short neck ³⁰		HP:0000470
28	depressed nasal bridge ³⁰		HP:0005280
29	hypertelorism ³⁰		HP:0000316
30	widely spaced teeth ³⁰		HP:0000687
31	microcephaly ³⁰		HP:0000252
32	short stature ³⁰		HP:0004322
33	gastroesophageal reflux ³⁰		HP:0002020
34	cleft palate ³⁰		HP:0000175
35	cryptorchidism ³⁰		HP:0000028
36	postnatal growth retardation ³⁰		HP:0008897
37	retrognathia ³⁰		HP:0000278
38	myopia ³⁰		HP:0000545
39	nevus ³⁰		HP:0003764
40	micropenis ³⁰		HP:0000054
41	deeply set eye ³⁰		HP:0000490
42	telecanthus ³⁰		HP:0000506
43	decreased testicular size ³⁰		HP:0008734
44	toe syndactyly ³⁰		HP:0001770
45	truncal obesity ³⁰		HP:0001956
46	hypogonadism ³⁰		HP:0000135
47	broad nasal tip ³⁰		HP:0000455
48	generalized hypotonia ³⁰		HP:0001290
49	happy demeanor ³⁰		HP:0040082

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Head And Neck Neck:
short neck

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

Abdomen Gastrointestinal:
gastroesophageal reflux
feeding problems

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

Head And Neck Face:
retrognathia
micrognathia
long philtrum

Skeletal Feet:
toe syndactyly
small feet

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
behavioral disorders

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 Eyes:
ptosis
hypertelorism
myopia
telecanthus
synophrys
more

Muscle Soft Tissue:
hypotonia

Head And Neck Teeth:
widely spaced teeth

Head And Neck Head:
brachycephaly
small head circumference

Growth Other:
postnatal growth retardation

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Skin Nails Hair Skin:
cutis marmorata
nevus flammus

Skeletal Hands:
small hands

Skeletal Skull:
delayed closure of the fontanels

Growth Weight:
truncal obesity (family h)

Genitourinary Internal Genitalia Male:
small testes (family h)
cryptorchidism (family h)

Clinical features from OMIM®:

300882 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Cornelia De Lange Syndrome 5:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear	MP:0005377	8.8	KAT6B NFIX TMTC4

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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 ²⁸	HDAC8

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Anatomical Context for Cornelia De Lange Syndrome 5

Organs/tissues related to Cornelia De Lange Syndrome 5:

MalaCards : Heart, Testes, Eye, Brain

ODiseA: Brain, Heart-Atrium, Heart-Ventricle, Heart

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Publications for Cornelia De Lange Syndrome 5

Articles related to Cornelia De Lange Syndrome 5:

(show all 23)

#	Title	Authors	PMID	Year
1	Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. ⁵⁷ ⁵	Kaiser FJ...Deardorff MA	24403048	2014
2	HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. ⁵⁷ ⁵	Deardorff MA...Shirahige K	22885700	2012
3	X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. ⁵⁷ ⁵	Harakalova M...Ploos van Amstel HK	22889856	2012
4	Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype. ⁶² ⁵⁷	Jezela-Stanek A...Ploski R	30921088	2019
5	Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. ⁵	Yuan B...Liu P	30158690	2019
6	A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. ⁵	Stark Z...White SM	26938784	2016
7	Molecular diagnostic experience of whole-exome sequencing in adult patients. ⁵	Posey JE...Plon SE	26633545	2016
8	Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. ⁵	Parenti I...Kaiser FJ	26671848	2016
9	Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disorders. ⁵	Decroos C...Christianson DW	26463496	2015
10	HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity. ⁵⁷	Mordaunt DA...McLauchlan A	25800122	2015
11	Cornelia de Lange syndrome. ⁵⁷	Boyle MI...Tumer Z	25209348	2015
12	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. ⁵	Richards S...ACMG Laboratory Quality Assurance Committee	25741868	2015
13	Large-scale discovery of novel genetic causes of developmental disorders. ⁵	Deciphering Developmental Disorders Study	25533962	2015
14	Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. ⁵	Yuan B...Lupski JR	25574841	2015
15	Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disorders. ⁵	Decroos C...Christianson DW	25075551	2014
16	DIAMUND: direct comparison of genomes to detect mutations. ⁵	Salzberg SL...Sobreira N	24375697	2014
17	In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome. ⁵⁷	Hoppman-Chaney N...Hodge JC	22106055	2012
18	Epigenetic control of skull morphogenesis by histone deacetylase 8. ⁵	Haberland M...Olson EN	19605684	2009
19	X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. ⁵⁷	Musio A...Larizza L	16604071	2006
20	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
21	Generation of an induced pluripotent stem cell line SJTUXHi001-A from an autism spectrum disorder patient carrying a heterozygous mutation in HDAC8 (p.P359S). ⁶²	Chen Z...Li F	35358829	2022
22	[Clinical and genetic analysis of a neonate with Cornelia de Lange syndrome 5 caused by HDAC8 gene mutation]. ⁶²	Ma J...Liu Y	31302920	2019
23	Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. ⁶²	Salehi Karlslatt K...Nordenskjold A	30632303	2019

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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	PubMed IDs
1	HDAC8	Histone Deacetylase 8	Protein Coding	1340.29	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	19605684 22885700 22889856 (more) 24403048 25075551 25574841 26463496 26633545 26671848 30158690 16199547 25533962 25741868 26938784
2	TMTC4	Transmembrane O-Mannosyltransferase Targeting Cadherins 4	Protein Coding	6.54	DISEASES inferred ¹⁴
3	KAT6B	Lysine Acetyltransferase 6B	Protein Coding	6.01	DISEASES inferred ¹⁴
4	NFIX	Nuclear Factor I X	Protein Coding	4.77	DISEASES inferred ¹⁴
5	NSD1	Nuclear Receptor Binding SET Domain Protein 1	Protein Coding	4.34	DISEASES inferred ¹⁴

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Variations for Cornelia De Lange Syndrome 5

ClinVar genetic disease variations for Cornelia De Lange Syndrome 5:

⁵ (show top 50) (show all 113)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	HDAC8	NM_018486.3(HDAC8):c.164+5G>A	SNV	Pathogenic	37252	rs398122888	GRCh37: X:71791902-71791902 GRCh38: X:72572052-72572052
2	overlap with 7 genes	NC_000023.10:g.71681853_72434328del752476	DEL	Pathogenic	209109		GRCh37: X:71681853-72434328 GRCh38:
3	HDAC8	NM_018486.3(HDAC8):c.104_105del (p.Pro35fs)	DEL	Pathogenic	545414	rs1556165162	GRCh37: X:71792507-71792508 GRCh38: X:72572657-72572658
4	HDAC8	NM_018486.3(HDAC8):c.787C>T (p.Gln263Ter)	SNV	Pathogenic	280671	rs886041838	GRCh37: X:71684532-71684532 GRCh38: X:72464682-72464682
5	HDAC8	NM_018486.3(HDAC8):c.738-1G>A	SNV	Pathogenic	804029	rs1602975601	GRCh37: X:71684582-71684582 GRCh38: X:72464732-72464732
6	HDAC8	NM_018486.3(HDAC8):c.1081C>T (p.Arg361Ter)	SNV	Pathogenic	433191	rs1555948969	GRCh37: X:71571613-71571613 GRCh38: X:72351763-72351763
7	HDAC8	NM_018486.3(HDAC8):c.522C>A (p.Tyr174Ter)	SNV	Pathogenic	446297	rs146015223	GRCh37: X:71715034-71715034 GRCh38: X:72495184-72495184
8	HDAC8	NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg)	SNV	Pathogenic	987749	rs587779380	GRCh37: X:71787820-71787820 GRCh38: X:72567970-72567970
9	HDAC8	NM_018486.3(HDAC8):c.881G>A (p.Trp294Ter)	SNV	Pathogenic	1333326		GRCh37: X:71684438-71684438 GRCh38: X:72464588-72464588
10	HDAC8	NM_018486.3(HDAC8):c.1001A>G (p.His334Arg)	SNV	Pathogenic	39714	rs397515418	GRCh37: X:71681858-71681858 GRCh38: X:72462008-72462008
11	HDAC8	NM_018486.3(HDAC8):c.539A>G (p.His180Arg)	SNV	Pathogenic	39711	rs397515416	GRCh37: X:71715017-71715017 GRCh38: X:72495167-72495167
12	HDAC8	NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)	SNV	Pathogenic	39710	rs397515415	GRCh37: X:71715066-71715066 GRCh38: X:72495216-72495216
13	HDAC8	NM_018486.3(HDAC8):c.75_82del (p.Val25_Ser26insTer)	DEL	Pathogenic	1323053		GRCh37: X:71792530-71792537 GRCh38: X:72572680-72572687
14	HDAC8	NM_018486.3(HDAC8):c.471T>G (p.Asp157Glu)	SNV	Pathogenic	1164056		GRCh37: X:71715085-71715085 GRCh38: X:72495235-72495235
15	HDAC8	NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter)	SNV	Pathogenic	523222	rs1569316085	GRCh37: X:71681922-71681922 GRCh38: X:72462072-72462072
16	HDAC8	NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)	DEL	Pathogenic	158658	rs587783663	GRCh37: X:71791940-71791940 GRCh38: X:72572090-72572090
17	HDAC8	NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)	SNV	Pathogenic	39712	rs397515417	GRCh37: X:71681927-71681927 GRCh38: X:72462077-72462077
18	overlap with 2 genes		DEL	Pathogenic	584437		GRCh37: X:71790521-71833766 GRCh38: X:72570671-72613916
19	HDAC8	NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)	SNV	Pathogenic	211141	rs797045611	GRCh37: X:71788670-71788670 GRCh38: X:72568820-72568820
20	HDAC8	NM_018486.3(HDAC8):c.295+2T>G	SNV	Pathogenic	844191	rs2051897517	GRCh37: X:71788602-71788602 GRCh38: X:72568752-72568752
21	HDAC8	NM_018486.3(HDAC8):c.164+2dup	DUP	Pathogenic	1072722		GRCh37: X:71791904-71791905 GRCh38: X:72572054-72572055
22	HDAC8	NM_018486.3(HDAC8):c.522C>G (p.Tyr174Ter)	SNV	Pathogenic	1076180		GRCh37: X:71715034-71715034 GRCh38: X:72495184-72495184
23	HDAC8	NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)	MICROSAT	Pathogenic	211139	rs797045610	GRCh37: X:71791934-71791937 GRCh38: X:72572084-72572087
24	HDAC8	NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)	SNV	Pathogenic	39713	rs398122909	GRCh37: X:71681901-71681901 GRCh38: X:72462051-72462051
25	HDAC8	NM_018486.3(HDAC8):c.976_996del (p.Thr326_Pro332del)	DEL	Likely Pathogenic	1707472		GRCh37: X:71681863-71681883 GRCh38: X:72462013-72462033
26	HDAC8	NM_018486.3(HDAC8):c.839_843delinsGT (p.Thr280_Pro281delinsSer)	INDEL	Likely Pathogenic	369669	rs1057516037	GRCh37: X:71684476-71684480 GRCh38: X:72464626-72464630
27	HDAC8	NM_018486.3(HDAC8):c.556G>A (p.Glu186Lys)	SNV	Likely Pathogenic	211142	rs797045612	GRCh37: X:71710851-71710851 GRCh38: X:72491001-72491001
28	HDAC8		DEL	Likely Pathogenic	1684651		GRCh37: GRCh38: X:72456277-72483823
29	HDAC8	NC_000023.10:g.(?_71681834)_(71715138_?)dup	DUP	Likely Pathogenic	540333		GRCh37: X:71681834-71715138 GRCh38:
30	HDAC8	NM_018486.3(HDAC8):c.302A>G (p.Asp101Gly)	SNV	Likely Pathogenic	975708	rs2051867176	GRCh37: X:71787874-71787874 GRCh38: X:72568024-72568024
31	HDAC8	NM_018486.3(HDAC8):c.770C>A (p.Pro257His)	SNV	Likely Pathogenic	211143	rs797045613	GRCh37: X:71684549-71684549 GRCh38: X:72464699-72464699
32	HDAC8	NM_018486.3(HDAC8):c.1005+2T>C	SNV	Likely Pathogenic	1519914		GRCh37: X:71681852-71681852 GRCh38: X:72462002-72462002
33	HDAC8	NM_018486.3(HDAC8):c.551del (p.Gly184fs)	DEL	Likely Pathogenic	1333346		GRCh37: X:71710856-71710856 GRCh38: X:72491006-72491006
34	HDAC8	NM_018486.3(HDAC8):c.1019A>C (p.Tyr340Ser)	SNV	Likely Pathogenic	473110	rs1555949010	GRCh37: X:71571675-71571675 GRCh38: X:72351825-72351825
35	HDAC8	NM_018486.3(HDAC8):c.799G>A (p.Asp267Asn)	SNV	Likely Pathogenic	869426	rs2047965357	GRCh37: X:71684520-71684520 GRCh38: X:72464670-72464670
36	HDAC8	NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter)	SNV	Likely Pathogenic	928844	rs2048769063	GRCh37: X:71708800-71708800 GRCh38: X:72488950-72488950
37	HDAC8	NM_018486.3(HDAC8):c.584T>A (p.Val195Asp)	SNV	Likely Pathogenic	523220	rs1556009247	GRCh37: X:71710823-71710823 GRCh38: X:72490973-72490973
38	HDAC8	NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg)	SNV	Likely Pathogenic	523221	rs1569318004	GRCh37: X:71684526-71684526 GRCh38: X:72464676-72464676
39	HDAC8	NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp)	SNV	Likely Pathogenic	623138	rs1556007534	GRCh37: X:71708853-71708853 GRCh38: X:72489003-72489003
40	HDAC8	NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)	SNV	Likely Pathogenic	689725	rs1602975455	GRCh37: X:71684550-71684550 GRCh38: X:72464700-72464700
41	HDAC8	NM_018486.3(HDAC8):c.859T>C (p.Cys287Arg)	SNV	Likely Pathogenic	800965	rs1602975122	GRCh37: X:71684460-71684460 GRCh38: X:72464610-72464610
42	HDAC8	NM_018486.3(HDAC8):c.796G>C (p.Ala266Pro)	SNV	Likely Pathogenic	560685	rs1569317995	GRCh37: X:71684523-71684523 GRCh38: X:72464673-72464673
43	HDAC8	NM_018486.3(HDAC8):c.1006-2A>G	SNV	Likely Pathogenic	216939	rs863224877	GRCh37: X:71571690-71571690 GRCh38: X:72351840-72351840
44	HDAC8	NM_018486.3(HDAC8):c.737+1G>A	SNV	Likely Pathogenic	224074	rs869312660	GRCh37: X:71708782-71708782 GRCh38: X:72488932-72488932
45	HDAC8	NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly)	SNV	Likely Pathogenic	374393	rs1057518727	GRCh37: X:71715029-71715029 GRCh38: X:72495179-72495179
46	HDAC8	NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)	SNV	Conflicting Interpretations Of Pathogenicity	92043	rs587779380	GRCh37: X:71787820-71787820 GRCh38: X:72567970-72567970
47	HDAC8	NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr)	SNV	Conflicting Interpretations Of Pathogenicity	931504	rs200093133	GRCh37: X:71792590-71792590 GRCh38: X:72572740-72572740
48	HDAC8	NM_018486.3(HDAC8):c.-5G>T	SNV	Uncertain Significance	158657	rs587783662	GRCh37: X:71792616-71792616 GRCh38: X:72572766-72572766
49	HDAC8	NM_018486.3(HDAC8):c.738-9969T>C	SNV	Uncertain Significance	1333188		GRCh37: X:71694550-71694550 GRCh38: X:72474700-72474700
50	HDAC8	NM_018486.3(HDAC8):c.24G>A (p.Ala8=)	SNV	Uncertain Significance	158660	rs61736843	GRCh37: X:71792588-71792588 GRCh38: X:72572738-72572738

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

⁷³

#	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

Sources

Expression for Cornelia De Lange Syndrome 5

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

Sources

Pathways for Cornelia De Lange Syndrome 5

Pathways related to Cornelia De Lange Syndrome 5 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	11.64	NSD1 KAT6B HDAC8

Sources

GO Terms for Cornelia De Lange Syndrome 5

Biological processes related to Cornelia De Lange Syndrome 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin organization	GO:0006325	9.02	NSD1 KAT6B HDAC8
2	DNA-templated transcription elongation	GO:0006354	8.96	NSD1 KAT6B

Molecular functions related to Cornelia De Lange Syndrome 5 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription coregulator activity	GO:0003712	8.92	NSD1 KAT6B

Sources

Sources for Cornelia De Lange Syndrome 5

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

CDLS5 MCID: CRN209 MIFTS: 40	Cornelia De Lange Syndrome 5 (CDLS5) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Cornelia De Lange Syndrome 5 (CDLS5)

Aliases & Classifications for Cornelia De Lange Syndrome 5

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