MCID: CRN209
MIFTS: 23

Cornelia De Lange Syndrome 5

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

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:



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.

Related Diseases for Cornelia De Lange Syndrome 5

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

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 29 HDAC8

Anatomical Context for Cornelia De Lange Syndrome 5

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

41
Eye, Testes

Publications for Cornelia De Lange Syndrome 5

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

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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