EVC
MCID: ELL001
MIFTS: 61

Ellis-Van Creveld Syndrome (EVC)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Ellis-Van Creveld Syndrome

MalaCards integrated aliases for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 57 12 73 20 43 72 36 29 13 54 6 44 15 70
Chondroectodermal Dysplasia 57 12 73 20 43 58 72 32
Mesoectodermal Dysplasia 57 12 20 72 70
Ellis Van Creveld Syndrome 20 58
Mesodermic Dysplasia 20 58
Evc 57 72
Ellis-Van Creveld Dysplasia 43
Syndrome Ellis-Van Creveld 39

Characteristics:

Orphanet epidemiological data:

58
ellis van creveld syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in eastern pennsylvania amish


HPO:

31
ellis-van creveld syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare cardiac malformations
Rare renal diseases
Rare respiratory diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Ellis-Van Creveld Syndrome

MedlinePlus Genetics : 43 Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.The features of Ellis-van Creveld syndrome overlap with those of another, milder condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, Weyers acrofacial dysostosis involves tooth and nail abnormalities, although affected individuals have less pronounced short stature and typically do not have heart defects. The two conditions are caused by mutations in the same genes.

MalaCards based summary : Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to short-rib thoracic dysplasia 7 with or without polydactyly and short-rib thoracic dysplasia 14 with polydactyly. An important gene associated with Ellis-Van Creveld Syndrome is EVC (EvC Ciliary Complex Subunit 1), and among its related pathways/superpathways are Hedgehog signaling pathway and Organelle biogenesis and maintenance. Affiliated tissues include heart, bone and bone marrow, and related phenotypes are failure to thrive and abnormal heart valve morphology

Disease Ontology : 12 A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has material basis in homozygous or compound heterozygous mutation in either EVC or EVC2 on chromosome 4p16.2.

GARD : 20 Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature ; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly ; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes ( mutations ) in the EVC or EVC2 genes ; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

OMIM® : 57 Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002). (225500) (Updated 20-May-2021)

KEGG : 36 Ellis-van Creveld syndrome is an autosomal recessive disorder of bone growth. Indivisuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease.

UniProtKB/Swiss-Prot : 72 Ellis-van Creveld syndrome: An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.

Wikipedia : 73 Ellis-Van Creveld syndrome (also called mesoectodermal dysplasia but see 'Nomenclature' section below)... more...

Related Diseases for Ellis-Van Creveld Syndrome

Diseases related to Ellis-Van Creveld Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 7 with or without polydactyly 32.8 WDR35 WDR19 TTC21B IFT140 DYNC2I1
2 short-rib thoracic dysplasia 14 with polydactyly 32.8 KIAA0586 GLI1
3 short-rib thoracic dysplasia 5 with or without polydactyly 32.8 WDR35 WDR19 IFT140
4 short-rib thoracic dysplasia 2 with or without polydactyly 32.7 WDR19 TTC21B IFT80 DYNC2H1
5 short-rib thoracic dysplasia 8 with or without polydactyly 32.7 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
6 short-rib thoracic dysplasia 11 with or without polydactyly 32.7 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
7 short-rib thoracic dysplasia 4 with or without polydactyly 32.6 WDR35 WDR19 TTC21B IFT140 DYNC2I1
8 short-rib thoracic dysplasia 9 with or without polydactyly 32.6 WDR35 WDR19 TTC21B IFT43 IFT172 IFT140
9 weyers acrofacial dysostosis 32.0 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
10 oculoauricular syndrome 31.8 EVC2 EVC
11 osteochondrodysplasia 31.7 WDR35 WDR19 IFT80 EVC2 EVC DYNC2H1
12 dysostosis 31.7 STK32B EVC2 EVC
13 short-rib thoracic dysplasia 1 with or without polydactyly 31.7 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
14 short-rib thoracic dysplasia 3 with or without polydactyly 31.7 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
15 short-rib thoracic dysplasia 6 with or without polydactyly 31.6 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
16 short-rib thoracic dysplasia 12 31.6 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
17 cranioectodermal dysplasia 31.5 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
18 meckel syndrome, type 1 31.4 WDR19 TTC21B KIAA0586 IFT80 IFT52 IFT172
19 acrofacial dysostosis 31.3 WDR35 IFT80 EVC2 EVC EFCAB7
20 polydactyly 31.1 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
21 joubert syndrome 1 31.1 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
22 anodontia 31.1 EVC2 EVC
23 ciliopathy 31.1 TTC21B KIAA0586 IFT52 IFT140 DYNC2LI1
24 short rib-polydactyly syndrome 31.0 WDR35 IFT52 IFT43 DYNC2H1
25 brachydactyly 31.0 WDR35 WDR19 IFT43 GLI1
26 bardet-biedl syndrome 30.2 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43
27 retinitis pigmentosa 30.1 WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT52
28 nephronophthisis 30.0 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
29 asphyxiating thoracic dystrophy 29.9 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
30 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
31 short-rib thoracic dysplasia 15 with polydactyly 11.5
32 short-rib thoracic dysplasia 17 with or without polydactyly 11.5
33 short-rib thoracic dysplasia 16 with or without polydactyly 11.5
34 short-rib thoracic dysplasia 18 with polydactyly 11.5
35 short-rib thoracic dysplasia 19 with or without polydactyly 11.5
36 short-rib thoracic dysplasia 20 with polydactyly 11.5
37 atelosteogenesis, type i 11.3
38 boomerang dysplasia 11.3
39 ritscher-schinzel syndrome 1 11.3
40 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
41 chondroectodermal dysplasia with night blindness 11.2
42 ectodermal dysplasia 11.1
43 autosomal recessive disease 11.0
44 dwarfism 10.9
45 diamond-blackfan anemia 2 10.8
46 heart septal defect 10.8
47 atrial heart septal defect 10.6
48 taurodontism 10.6
49 chromosome 2q35 duplication syndrome 10.6
50 mckusick-kaufman syndrome 10.5

Graphical network of the top 20 diseases related to Ellis-Van Creveld Syndrome:



Diseases related to Ellis-Van Creveld Syndrome

Symptoms & Phenotypes for Ellis-Van Creveld Syndrome

Human phenotypes related to Ellis-Van Creveld Syndrome:

58 31 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 abnormal heart valve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001654
3 genu valgum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002857
4 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
5 hypoplastic toenails 58 31 hallmark (90%) Very frequent (99-80%) HP:0001800
6 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
7 hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001161
8 foot polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001829
9 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
10 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
11 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
12 neonatal short-limb short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0008921
13 nail dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002164
14 atrioventricular canal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0006695
15 abnormal oral mucosa morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011830
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
18 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
20 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
21 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
22 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
23 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
24 abnormality of pelvic girdle bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002644
25 aplasia/hypoplasia of the lungs 58 31 frequent (33%) Frequent (79-30%) HP:0006703
26 epispadias 58 31 frequent (33%) Frequent (79-30%) HP:0000039
27 abnormal oral frenulum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000190
28 capitate-hamate fusion 58 31 frequent (33%) Frequent (79-30%) HP:0001241
29 situs inversus totalis 58 31 frequent (33%) Frequent (79-30%) HP:0001696
30 conical incisor 58 31 frequent (33%) Frequent (79-30%) HP:0011065
31 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
32 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
33 cubitus valgus 58 31 occasional (7.5%) Occasional (29-5%) HP:0002967
34 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
35 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
36 delayed eruption of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000684
37 acute leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002488
38 abnormal hair quantity 58 31 occasional (7.5%) Occasional (29-5%) HP:0011362
39 thin vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0000233
40 synostosis of carpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005048
41 hydroureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000072
42 abnormality of bone marrow cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0005561
43 abnormal morphology of female internal genitalia 31 occasional (7.5%) HP:0000008
44 abnormality of the dentition 58 Very frequent (99-80%)
45 pectus carinatum 31 HP:0000768
46 abnormality of the nail 58 Very frequent (99-80%)
47 malformation of the heart and great vessels 58 Very frequent (99-80%)
48 abnormality of the skeletal system 58 Occasional (29-5%)
49 talipes equinovarus 31 HP:0001762
50 abnormality of female internal genitalia 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short, poorly developed ribs

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
postaxial polydactyly

Genitourinary External Genitalia Male:
hypospadias
epispadias

Chest External Features:
narrow chest

Skeletal Hands:
postaxial polydactyly
cone-shaped epiphyses of phalanges 2 to 5
difficulty forming a fist

Growth Height:
short-limb dwarfism identifiable at birth
average adult height, 109 to 152 cm

Head And Neck Mouth:
partial cleft lip
defect in alveolar ridge

Skeletal Limbs:
genu valgum
centrifugal shortening of limbs
fusion of capitate and hamate
short, thickened tubular bones

Cardiovascular Heart:
atrial septal defect
single atrium
other congenital heart defects

Neurologic Central Nervous System:
dandy-walker malformation
mental retardation (some)

Head And Neck Teeth:
hypodontia
neonatal teeth
delayed eruption

Skin Nails Hair Nails:
nail dysplasia

Head And Neck Head:
normocephaly

Head And Neck Face:
normal with exception of upper-lip defect

Skeletal Pelvis:
low iliac wings
spur-like projections at the medial and lateral aspect of acetabula

Clinical features from OMIM®:

225500 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFCAB7
2 cellular MP:0005384 10.3 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2
3 embryo MP:0005380 10.25 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 GLI1
4 cardiovascular system MP:0005385 10.22 CEP120 DYNC2H1 DYNC2I1 DYNC2LI1 IFT140 IFT172
5 craniofacial MP:0005382 10.21 DYNC2H1 EVC EVC2 GLI1 IFT140 IFT172
6 mortality/aging MP:0010768 10.21 CEP120 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EVC
7 limbs/digits/tail MP:0005371 10.17 DYNC2H1 DYNC2I2 DYNC2LI1 EVC EVC2 GLI1
8 nervous system MP:0003631 9.97 CEP120 DYNC2H1 DYNC2I2 DYNC2LI1 GLI1 IFT140
9 renal/urinary system MP:0005367 9.5 DYNC2H1 GLI1 IFT140 IFT172 IFT80 NEK1
10 skeleton MP:0005390 9.4 CEP120 DYNC2H1 EVC EVC2 IFT140 IFT172

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376

Search NIH Clinical Center for Ellis-Van Creveld Syndrome

Cochrane evidence based reviews: ellis-van creveld syndrome

Genetic Tests for Ellis-Van Creveld Syndrome

Genetic tests related to Ellis-Van Creveld Syndrome:

# Genetic test Affiliating Genes
1 Ellis-Van Creveld Syndrome 29 EVC EVC2

Anatomical Context for Ellis-Van Creveld Syndrome

MalaCards organs/tissues related to Ellis-Van Creveld Syndrome:

40
Heart, Bone, Bone Marrow, Kidney, Eye, Liver, Uterus

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 424)
# Title Authors PMID Year
1
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 54 61 6 57
17024374 2007
2
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 6 57 54 61
12468274 2002
3
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 57 6 54 61
10700184 2000
4
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 6 57 61
23220543 2013
5
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 57 6 61
21815252 2011
6
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 61 57 6
12571802 2003
7
Ellis-van Creveld syndrome and the Amish. 61 57 6
10700162 2000
8
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? 6 57 61
7628126 1995
9
Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. 61 6 57
7218275 1980
10
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. 61 6 57
14217223 1964
11
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. 54 61 6
19251731 2009
12
Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome. 61 6
31338997 2019
13
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. 6 61
29229899 2017
14
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. 61 6
29321360 2017
15
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. 61 6
28854412 2017
16
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. 61 6
26748586 2016
17
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. 6 61
26580685 2016
18
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. 6 61
26818569 2016
19
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. 61 6
25174843 2015
20
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. 6 61
23026208 2012
21
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. 61 6
22406498 2012
22
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. 61 6
22190900 2011
23
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. 61 6
21199751 2010
24
A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 6 61
19744229 2010
25
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. 6 61
20184732 2010
26
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 61 6
19810119 2009
27
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 61 6
19876929 2009
28
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. 6 61
18454448 2008
29
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. 61 6
16404586 2006
30
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. 61 57
15844783 2005
31
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. 57 61
15054850 2004
32
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 57 61
9399901 1997
33
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. 57 61
8882877 1996
34
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. 61 57
8661097 1996
35
Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. 61 57
7635486 1995
36
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. 57 61
7702088 1995
37
Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). 57 61
8465854 1993
38
Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation? 57 61
1435447 1992
39
Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? 57 61
1877634 1991
40
Dandy-Walker malformation in Ellis-van Creveld syndrome. 57 61
3223493 1988
41
Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. 61 57
3367352 1988
42
Natal teeth. 61 57
3946356 1986
43
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. 57 61
6709909 1984
44
Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. 57 61
6881201 1983
45
A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. 57 61
6938130 1980
46
Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. 61 57
876300 1977
47
Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings. 61 57
5568596 1971
48
Ellis-van Creveld syndrome associated with complete situs inversus. 61 57
5770269 1969
49
Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) with a complex cardiac malformation. 61 57
13717019 1961
50
Ellis-Van Creveld syndrome. Report of two cases. 61 57
13793041 1960

Variations for Ellis-Van Creveld Syndrome

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6 (show top 50) (show all 1071)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EVC2 EVC2, 1-BP DEL, 3660C Deletion Pathogenic 3380 GRCh37:
GRCh38:
2 EVC2 EVC2, 5-BP INS, NT198 Insertion Pathogenic 3381 GRCh37:
GRCh38:
3 EVC2 NM_147127.5(EVC2):c.2056dup (p.Gln686fs) Duplication Pathogenic 3382 rs1265421045 GRCh37: 4:5624708-5624709
GRCh38: 4:5622981-5622982
4 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic 3383 rs137852924 GRCh37: 4:5642516-5642516
GRCh38: 4:5640789-5640789
5 EVC2 NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) SNV Pathogenic 3384 rs137852925 GRCh37: 4:5630317-5630317
GRCh38: 4:5628590-5628590
6 EVC2 NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) SNV Pathogenic 3385 rs137852926 GRCh37: 4:5683009-5683009
GRCh38: 4:5681282-5681282
7 EVC2 NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) SNV Pathogenic 3386 rs137852927 GRCh37: 4:5577974-5577974
GRCh38: 4:5576247-5576247
8 EVC NM_153717.3(EVC):c.1886+5G>T SNV Pathogenic 5338 rs794726665 GRCh37: 4:5795449-5795449
GRCh38: 4:5793722-5793722
9 EVC NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) SNV Pathogenic 5339 rs121908424 GRCh37: 4:5810001-5810001
GRCh38: 4:5808274-5808274
10 EVC NM_153717.3(EVC):c.735del (p.Asp246fs) Deletion Pathogenic 5341 rs587776619 GRCh37: 4:5743474-5743474
GRCh38: 4:5741747-5741747
11 EVC NM_153717.3(EVC):c.2457del (p.Met820fs) Deletion Pathogenic 5344 rs794726666 GRCh37: 4:5806463-5806463
GRCh38: 4:5804736-5804736
12 EVC2 NM_147127.5(EVC2):c.707-2A>G SNV Pathogenic 30664 rs1302074641 GRCh37: 4:5687208-5687208
GRCh38: 4:5685481-5685481
13 EVC2 NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) SNV Pathogenic 30665 rs146538906 GRCh37: 4:5620258-5620258
GRCh38: 4:5618531-5618531
14 EVC2 NM_147127.5(EVC2):c.2746del (p.Ser916fs) Deletion Pathogenic 219180 rs886037763 GRCh37: 4:5617232-5617232
GRCh38: 4:5615505-5615505
15 EVC NM_153717.3(EVC):c.1539del (p.Glu514fs) Deletion Pathogenic 455998 rs759106605 GRCh37: 4:5758064-5758064
GRCh38: 4:5756337-5756337
16 EVC NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) Duplication Pathogenic 455996 rs1553876034 GRCh37: 4:5755598-5755599
GRCh38: 4:5753871-5753872
17 EVC NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) SNV Pathogenic 455999 rs751772225 GRCh37: 4:5785399-5785399
GRCh38: 4:5783672-5783672
18 EVC NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) SNV Pathogenic 530945 rs1446547358 GRCh37: 4:5800451-5800451
GRCh38: 4:5798724-5798724
19 EVC NM_153717.3(EVC):c.1554dup (p.Leu519fs) Duplication Pathogenic 522447 rs1553876870 GRCh37: 4:5758079-5758080
GRCh38: 4:5756352-5756353
20 EVC2 NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) SNV Pathogenic 550367 rs767072839 GRCh37: 4:5664955-5664955
GRCh38: 4:5663228-5663228
21 EVC2 NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) SNV Pathogenic 550579 rs73198165 GRCh37: 4:5627493-5627493
GRCh38: 4:5625766-5625766
22 EVC2 NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) SNV Pathogenic 552093 rs1236566474 GRCh37: 4:5687168-5687168
GRCh38: 4:5685441-5685441
23 EVC2 NM_147127.5(EVC2):c.3660del (p.Ser1220fs) Deletion Pathogenic 553833 rs753581033 GRCh37: 4:5564842-5564842
GRCh38: 4:5563115-5563115
24 EVC2 NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) Indel Pathogenic 455997 rs1553812417 GRCh37: 4:5567010-5567010
GRCh38: 4:5565283-5565283
25 EVC NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) SNV Pathogenic 555660 rs1553889992 GRCh37: 4:5795371-5795371
GRCh38: 4:5793644-5793644
26 EVC2 NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) SNV Pathogenic 280117 rs548681312 GRCh37: 4:5624289-5624289
GRCh38: 4:5622562-5622562
27 EVC NM_153717.3(EVC):c.2T>A (p.Met1Lys) SNV Pathogenic 558005 rs1553857801 GRCh37: 4:5713109-5713109
GRCh38: 4:5711382-5711382
28 EVC NM_153717.3(EVC):c.1312del (p.Arg438fs) Deletion Pathogenic 571769 rs1560340993 GRCh37: 4:5754775-5754775
GRCh38: 4:5753048-5753048
29 EVC2 NM_147127.5(EVC2):c.392dup (p.Pro132fs) Duplication Pathogenic 575995 rs774416029 GRCh37: 4:5696119-5696120
GRCh38: 4:5694392-5694393
30 EVC2 NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) SNV Pathogenic 554547 rs760382778 GRCh37: 4:5620291-5620291
GRCh38: 4:5618564-5618564
31 EVC2 NM_147127.5(EVC2):c.142_151del (p.Asp49fs) Deletion Pathogenic 550552 rs1221185345 GRCh37: 4:5710090-5710099
GRCh38: 4:5708363-5708372
32 EVC2 NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) SNV Pathogenic 580714 rs748820015 GRCh37: 4:5696171-5696171
GRCh38: 4:5694444-5694444
33 EVC NC_000004.12:g.(?_5797002)_(5797252_?)del Deletion Pathogenic 583701 GRCh37: 4:5798729-5798979
GRCh38: 4:5797002-5797252
34 EVC2 NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) SNV Pathogenic 194442 rs751356206 GRCh37: 4:5624502-5624502
GRCh38: 4:5622775-5622775
35 EVC2 NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) SNV Pathogenic 3383 rs137852924 GRCh37: 4:5642516-5642516
GRCh38: 4:5640789-5640789
36 EVC NM_153717.3(EVC):c.801dup (p.Asp268fs) Duplication Pathogenic 635328 rs777852863 GRCh37: 4:5743536-5743537
GRCh38: 4:5741809-5741810
37 EVC2 NM_147127.5(EVC2):c.3762del (p.Val1255fs) Deletion Pathogenic 639672 rs1577093258 GRCh37: 4:5564740-5564740
GRCh38: 4:5563013-5563013
38 EVC2 NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) SNV Pathogenic 647337 rs144167138 GRCh37: 4:5578034-5578034
GRCh38: 4:5576307-5576307
39 EVC2 NC_000004.12:g.(?_5689147)_(5689353_?)del Deletion Pathogenic 647967 GRCh37: 4:5690874-5691080
GRCh38: 4:5689147-5689353
40 EVC2 NM_147127.5(EVC2):c.3640del (p.Ala1214fs) Deletion Pathogenic 650524 rs1577095782 GRCh37: 4:5567004-5567004
GRCh38: 4:5565277-5565277
41 EVC2 NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) SNV Pathogenic 3386 rs137852927 GRCh37: 4:5577974-5577974
GRCh38: 4:5576247-5576247
42 EVC NM_153717.3(EVC):c.724dup (p.Met242fs) Duplication Pathogenic 645928 rs1577395250 GRCh37: 4:5743460-5743461
GRCh38: 4:5741733-5741734
43 EVC2 NM_147127.5(EVC2):c.707-2A>C SNV Pathogenic 653886 rs1302074641 GRCh37: 4:5687208-5687208
GRCh38: 4:5685481-5685481
44 EVC2 NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) SNV Pathogenic 656440 rs781623802 GRCh37: 4:5624673-5624673
GRCh38: 4:5622946-5622946
45 EVC2 NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) SNV Pathogenic 658689 rs1577170055 GRCh37: 4:5624397-5624397
GRCh38: 4:5622670-5622670
46 EVC NM_153717.3(EVC):c.758C>G (p.Ser253Ter) SNV Pathogenic 804171 rs762795511 GRCh37: 4:5743498-5743498
GRCh38: 4:5741771-5741771
47 EVC NM_153717.3(EVC):c.2376del (p.Tyr793fs) Deletion Pathogenic 804172 rs1577638781 GRCh37: 4:5803748-5803748
GRCh38: 4:5802021-5802021
48 EVC2 NC_000004.12:g.(?_5568434)_(5568650_?)del Deletion Pathogenic 830445 GRCh37: 4:5570161-5570377
GRCh38:
49 EVC2 NC_000004.12:g.(?_5562848)_(5565369_?)del Deletion Pathogenic 830808 GRCh37: 4:5564575-5567096
GRCh38:
50 overlap with 2 genes NC_000004.12:g.(?_5562838)_(5758135_?)del Deletion Pathogenic 832223 GRCh37: 4:5564565-5759862
GRCh38:

UniProtKB/Swiss-Prot genetic disease variations for Ellis-Van Creveld Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 EVC p.Arg443Gln VAR_009946 rs35953626
2 EVC p.Ser206Asn VAR_066447 rs101794605
3 EVC p.Leu623Pro VAR_066448 rs137363226
4 EVC2 p.Ile283Arg VAR_017209 rs137852926
5 EVC2 p.Arg950Trp VAR_017211 rs137852928

Expression for Ellis-Van Creveld Syndrome

Search GEO for disease gene expression data for Ellis-Van Creveld Syndrome.

Pathways for Ellis-Van Creveld Syndrome

Pathways related to Ellis-Van Creveld Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

Pathways related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43
2
Show member pathways
12.24 WDR35 WDR19 TTC21B IFT52 IFT172 IFT140
3 11.31 GLI1 EVC2 EVC EFCAB7
4 11.01 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43

GO Terms for Ellis-Van Creveld Syndrome

Cellular components related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
2 cytoskeleton GO:0005856 10.13 WDR35 WDR19 TTC21B NEK1 KIAA0586 IFT80
3 centrosome GO:0005813 10.1 WDR35 NEK1 KIAA0586 IFT80 IFT52 IFT140
4 microtubule organizing center GO:0005815 10.06 WDR35 NEK1 KIAA0586 IFT140 DYNC2LI1 DYNC2I2
5 axoneme GO:0005930 9.98 WDR35 IFT172 IFT140 GLI1 DYNC2LI1 DYNC2I2
6 ciliary basal body GO:0036064 9.97 WDR35 KIAA0586 IFT80 IFT52 IFT172 IFT140
7 ciliary tip GO:0097542 9.97 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43
8 centriole GO:0005814 9.89 KIAA0586 IFT52 IFT140 DYNC2I2 CEP120
9 motile cilium GO:0031514 9.88 WDR19 IFT52 DYNC2LI1 DYNC2H1
10 cell projection GO:0042995 9.86 WDR35 WDR19 TTC21B KIAA0586 IFT80 IFT52
11 cytoplasmic dynein complex GO:0005868 9.78 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
12 intraciliary transport particle A GO:0030991 9.77 WDR35 WDR19 TTC21B IFT43 IFT140
13 ciliary membrane GO:0060170 9.76 EVC2 EVC EFCAB7
14 photoreceptor connecting cilium GO:0032391 9.74 WDR19 IFT52 IFT140
15 ciliary base GO:0097546 9.73 IFT52 GLI1 DYNC2I1
16 intraciliary transport particle B GO:0030992 9.7 IFT80 IFT52 IFT172
17 plasma membrane protein complex GO:0098797 9.69 EVC2 EVC EFCAB7
18 pericentriolar material GO:0000242 9.59 NEK1 DYNC2I1
19 ciliary plasm GO:0097014 9.55 DYNC2I2 DYNC2I1
20 cilium GO:0005929 9.53 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43

Biological processes related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 10.02 WDR35 WDR19 NEK1 KIAA0586 IFT52 IFT43
2 intraciliary retrograde transport GO:0035721 9.91 WDR35 WDR19 TTC21B IFT43 IFT140 DYNC2LI1
3 determination of left/right symmetry GO:0007368 9.85 IFT52 IFT172 IFT140 DYNC2LI1 DYNC2H1
4 intraciliary transport GO:0042073 9.85 WDR35 IFT52 IFT172 IFT140 DYNC2I2 DYNC2I1
5 dorsal/ventral pattern formation GO:0009953 9.81 IFT52 IFT172 GLI1 DYNC2H1
6 smoothened signaling pathway GO:0007224 9.81 WDR19 TTC21B KIAA0586 IFT80 IFT52 IFT172
7 positive regulation of smoothened signaling pathway GO:0045880 9.8 IFT172 GLI1 EVC DYNC2H1
8 non-motile cilium assembly GO:1905515 9.8 IFT80 IFT52 IFT172 IFT140 DYNC2H1
9 protein localization to cilium GO:0061512 9.78 WDR35 TTC21B IFT140 DYNC2H1
10 regulation of smoothened signaling pathway GO:0008589 9.73 TTC21B IFT172 IFT140 GLI1
11 intraciliary transport involved in cilium assembly GO:0035735 9.73 WDR35 WDR19 TTC21B IFT80 IFT52 IFT43
12 microtubule-based movement GO:0007018 9.71 DYNC2I2 DYNC2I1 DYNC2H1
13 negative regulation of epithelial cell proliferation GO:0050680 9.7 IFT80 IFT52 IFT172
14 spinal cord motor neuron differentiation GO:0021522 9.57 IFT172 DYNC2H1
15 embryonic camera-type eye development GO:0031076 9.56 WDR19 IFT140
16 neural tube formation GO:0001841 9.55 IFT52 IFT172
17 cilium assembly GO:0060271 9.44 WDR35 WDR19 NEK1 KIAA0586 IFT80 IFT52

Molecular functions related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein light chain binding GO:0045503 8.96 DYNC2I2 DYNC2I1
2 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Ellis-Van Creveld Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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