CDLS5
MCID: CRN209
MIFTS: 25

Cornelia De Lange Syndrome 5 (CDLS5)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cornelia De Lange Syndrome 5

MalaCards integrated aliases for Cornelia De Lange Syndrome 5:

Name: Cornelia De Lange Syndrome 5 58 12 76 30 13 6 74
Cdls5 58 76
Cornelia De Lange Syndrome, Type 5 41

Characteristics:

OMIM:

58
Miscellaneous:
variable severity
females may be unaffected or mildly affected

Inheritance:
x-linked dominant


HPO:

33
cornelia de lange syndrome 5:
Onset and clinical course variable expressivity
Inheritance x-linked inheritance x-linked dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 5

OMIM : 58 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, testes and bone, and related phenotypes are hearing impairment and high palate

Disease Ontology : 12 A Cornelia de Lange syndrome that has material basis in by mutation in the HDAC8 gene on chromosome Xq13.

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Cornelia De Lange Syndrome 5

Symptoms & Phenotypes for Cornelia De Lange Syndrome 5

Human phenotypes related to Cornelia De Lange Syndrome 5:

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

Symptoms via clinical synopsis from OMIM:

58
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)

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

Clinical features from OMIM:

300882

Drugs & Therapeutics for Cornelia De Lange Syndrome 5

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

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 30 HDAC8

Anatomical Context for Cornelia De Lange Syndrome 5

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

42
Eye, Testes, Bone

Publications for Cornelia De Lange Syndrome 5

Articles related to Cornelia De Lange Syndrome 5:

# Title Authors Year
1
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. ( 22885700 )
2012
2
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. ( 22889856 )
2012

Variations for Cornelia De Lange Syndrome 5

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

76
# 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 top 50) (show all 68)
# 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.958G> A (p.Gly320Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs398122909 GRCh37 Chromosome X, 71681901: 71681901
10 HDAC8 NM_018486.2(HDAC8): c.958G> A (p.Gly320Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs398122909 GRCh38 Chromosome X, 72462051: 72462051
11 HDAC8 NM_018486.2(HDAC8): c.1001A> G (p.His334Arg) single nucleotide variant Pathogenic rs397515418 GRCh37 Chromosome X, 71681858: 71681858
12 HDAC8 NM_018486.2(HDAC8): c.1001A> G (p.His334Arg) single nucleotide variant Pathogenic rs397515418 GRCh38 Chromosome X, 72462008: 72462008
13 HDAC8 NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met) single nucleotide variant Pathogenic rs587779380 GRCh37 Chromosome X, 71787820: 71787820
14 HDAC8 NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met) single nucleotide variant Pathogenic rs587779380 GRCh38 Chromosome X, 72567970: 72567970
15 HDAC8 NM_018486.2(HDAC8): c.421_423del (p.Trp141del) deletion Uncertain significance rs587783664 GRCh37 Chromosome X, 71787753: 71787755
16 HDAC8 NM_018486.2(HDAC8): c.421_423del (p.Trp141del) deletion Uncertain significance rs587783664 GRCh38 Chromosome X, 72567903: 72567905
17 HDAC8 NM_018486.2(HDAC8): c.131del (p.Leu44Terfs) deletion Pathogenic rs587783663 GRCh37 Chromosome X, 71791940: 71791940
18 HDAC8 NM_018486.2(HDAC8): c.131del (p.Leu44Terfs) deletion Pathogenic rs587783663 GRCh38 Chromosome X, 72572090: 72572090
19 HDAC8 NM_018486.2(HDAC8): c.24G> A (p.Ala8=) single nucleotide variant Uncertain significance rs61736843 GRCh37 Chromosome X, 71792588: 71792588
20 HDAC8 NM_018486.2(HDAC8): c.24G> A (p.Ala8=) single nucleotide variant Uncertain significance rs61736843 GRCh38 Chromosome X, 72572738: 72572738
21 HDAC8 NM_018486.2(HDAC8): c.-5G> T single nucleotide variant Uncertain significance rs587783662 GRCh37 Chromosome X, 71792616: 71792616
22 HDAC8 NM_018486.2(HDAC8): c.-5G> T single nucleotide variant Uncertain significance rs587783662 GRCh38 Chromosome X, 72572766: 72572766
23 HDAC8 NC_000023.10: g.71681853_72434328del752476 deletion Pathogenic GRCh37 Chromosome X, 71681853: 72434328
24 HDAC8 NM_018486.2(HDAC8): c.770C> A (p.Pro257His) single nucleotide variant Likely pathogenic rs797045613 GRCh38 Chromosome X, 72464699: 72464699
25 HDAC8 NM_018486.2(HDAC8): c.770C> A (p.Pro257His) single nucleotide variant Likely pathogenic rs797045613 GRCh37 Chromosome X, 71684549: 71684549
26 HDAC8 NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys) single nucleotide variant Likely pathogenic rs797045612 GRCh38 Chromosome X, 72491001: 72491001
27 HDAC8 NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys) single nucleotide variant Likely pathogenic rs797045612 GRCh37 Chromosome X, 71710851: 71710851
28 HDAC8 NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs797045611 GRCh38 Chromosome X, 72568820: 72568820
29 HDAC8 NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs797045611 GRCh37 Chromosome X, 71788670: 71788670
30 HDAC8 NM_018486.2(HDAC8): c.134_137del (p.Ile45Lysfs) deletion Pathogenic rs797045610 GRCh37 Chromosome X, 71791934: 71791937
31 HDAC8 NM_018486.2(HDAC8): c.134_137del (p.Ile45Lysfs) deletion Pathogenic rs797045610 GRCh38 Chromosome X, 72572084: 72572087
32 HDAC8 NM_018486.2(HDAC8): c.1006-2A> G single nucleotide variant Likely pathogenic rs863224877 GRCh38 Chromosome X, 72351840: 72351840
33 HDAC8 NM_018486.2(HDAC8): c.1006-2A> G single nucleotide variant Likely pathogenic rs863224877 GRCh37 Chromosome X, 71571690: 71571690
34 HDAC8 NM_018486.2(HDAC8): c.737+1G> A single nucleotide variant Likely pathogenic rs869312660 GRCh37 Chromosome X, 71708782: 71708782
35 HDAC8 NM_018486.2(HDAC8): c.737+1G> A single nucleotide variant Likely pathogenic rs869312660 GRCh38 Chromosome X, 72488932: 72488932
36 HDAC8 NM_018486.2(HDAC8): c.787C> T (p.Gln263Ter) single nucleotide variant Pathogenic rs886041838 GRCh37 Chromosome X, 71684532: 71684532
37 HDAC8 NM_018486.2(HDAC8): c.787C> T (p.Gln263Ter) single nucleotide variant Pathogenic rs886041838 GRCh38 Chromosome X, 72464682: 72464682
38 HDAC8 NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer) indel Likely pathogenic rs1057516037 GRCh38 Chromosome X, 72464626: 72464630
39 HDAC8 NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer) indel Likely pathogenic rs1057516037 GRCh37 Chromosome X, 71684476: 71684480
40 HDAC8 NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly) single nucleotide variant Likely pathogenic rs1057518727 GRCh37 Chromosome X, 71715029: 71715029
41 HDAC8 NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly) single nucleotide variant Likely pathogenic rs1057518727 GRCh38 Chromosome X, 72495179: 72495179
42 HDAC8 NM_018486.2(HDAC8): c.1112-2A> G single nucleotide variant Uncertain significance rs1131690790 GRCh37 Chromosome X, 71549928: 71549928
43 HDAC8 NM_018486.2(HDAC8): c.1112-2A> G single nucleotide variant Uncertain significance rs1131690790 GRCh38 Chromosome X, 72330078: 72330078
44 HDAC8 NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter) single nucleotide variant Likely pathogenic rs1555948969 GRCh37 Chromosome X, 71571613: 71571613
45 HDAC8 NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter) single nucleotide variant Likely pathogenic rs1555948969 GRCh38 Chromosome X, 72351763: 72351763
46 HDAC8 NM_018486.2(HDAC8): c.522C> A (p.Tyr174Ter) single nucleotide variant Pathogenic rs146015223 GRCh38 Chromosome X, 72495184: 72495184
47 HDAC8 NM_018486.2(HDAC8): c.522C> A (p.Tyr174Ter) single nucleotide variant Pathogenic rs146015223 GRCh37 Chromosome X, 71715034: 71715034
48 HDAC8 NM_018486.2(HDAC8): c.1019A> C (p.Tyr340Ser) single nucleotide variant Likely pathogenic rs1555949010 GRCh37 Chromosome X, 71571675: 71571675
49 HDAC8 NM_018486.2(HDAC8): c.1019A> C (p.Tyr340Ser) single nucleotide variant Likely pathogenic rs1555949010 GRCh38 Chromosome X, 72351825: 72351825
50 HDAC8 NM_018486.2(HDAC8): c.937C> T (p.Arg313Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 72462072: 72462072

Expression for Cornelia De Lange Syndrome 5

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

Pathways for Cornelia De Lange Syndrome 5

GO Terms for Cornelia De Lange Syndrome 5

Sources for Cornelia De Lange Syndrome 5

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