EVC
MCID: ELL001
MIFTS: 62

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 75 53 25 74 37 29 13 55 6 44 15 72
Chondroectodermal Dysplasia 57 12 75 53 25 59 74 29 6 33
Mesoectodermal Dysplasia 57 53 74 72
Evc 57 74
Ellis-Van Creveld Dysplasia 25
Ellis Van Creveld Syndrome 59
Syndrome Ellis-Van Creveld 40
Mesodermic Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
ellis van creveld syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in eastern pennsylvania amish


HPO:

32
ellis-van creveld syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12714
KEGG 37 H00503
ICD9CM 35 756.55
MeSH 44 D004613
NCIt 50 C84684
SNOMED-CT 68 62501005
ICD10 33 Q77.6
MESH via Orphanet 45 D004613
ICD10 via Orphanet 34 Q77.6
UMLS via Orphanet 73 C0013903
Orphanet 59 ORPHA289
MedGen 42 C0013903
UMLS 72 C0013903 C4048722

Summaries for Ellis-Van Creveld Syndrome

Genetics Home Reference : 25 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 weyers acrofacial dysostosis and polydactyly, postaxial, type a1. 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 bone, heart and lung, and related phenotypes are genu valgum and failure to thrive

NIH Rare Diseases : 53 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)

KEGG : 37
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 : 74 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 : 75 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 165)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 34.1 EVC2 EVC
2 polydactyly, postaxial, type a1 32.3 EVC2 EVC
3 cranioectodermal dysplasia 1 31.7 WDR35 WDR19 TTC21B IFT80 IFT43 DYNC2H1
4 acrofacial dysostosis 31.7 EVC2 EVC
5 short-rib thoracic dysplasia 12 31.7 WDR19 TTC21B NEK1 IFT80 EVC2
6 short-rib thoracic dysplasia 6 with or without polydactyly 31.6 TTC21B NEK1 IFT80 EVC2 EVC DYNC2H1
7 short-rib thoracic dysplasia 1 with or without polydactyly 31.3 WDR60 WDR35 WDR19 TTC21B IFT80 EVC2
8 short-rib thoracic dysplasia 3 with or without polydactyly 31.0 WDR60 WDR35 WDR19 TTC21B NEK1 IFT80
9 nephronophthisis 30.0 WDR19 TTC21B IFT43
10 asphyxiating thoracic dystrophy 29.7 WDR60 WDR35 WDR19 TTC21B IFT80 DYNC2H1
11 polydactyly 29.5 WDR60 WDR35 TTC21B NEK1 GLI2 EVC
12 axial mesodermal dysplasia spectrum 12.5
13 chondroectodermal dysplasia with night blindness 12.5
14 short-rib thoracic dysplasia 7 with or without polydactyly 12.1
15 short-rib thoracic dysplasia 10 with or without polydactyly 12.1
16 short-rib thoracic dysplasia 15 with polydactyly 12.1
17 short-rib thoracic dysplasia 17 with or without polydactyly 12.1
18 short-rib thoracic dysplasia 9 with or without polydactyly 11.7
19 short-rib thoracic dysplasia 2 with or without polydactyly 11.7
20 short-rib thoracic dysplasia 4 with or without polydactyly 11.7
21 short-rib thoracic dysplasia 5 with or without polydactyly 11.7
22 short-rib thoracic dysplasia 8 with or without polydactyly 11.7
23 short-rib thoracic dysplasia 11 with or without polydactyly 11.7
24 short-rib thoracic dysplasia 14 with polydactyly 11.7
25 short-rib thoracic dysplasia 16 with or without polydactyly 11.7
26 short-rib thoracic dysplasia 18 with polydactyly 11.7
27 short-rib thoracic dysplasia 19 with or without polydactyly 11.7
28 short-rib thoracic dysplasia 20 with polydactyly 11.7
29 atelosteogenesis, type i 11.6
30 boomerang dysplasia 11.6
31 ritscher-schinzel syndrome 1 11.6
32 short-rib thoracic dysplasia 13 with or without polydactyly 11.6
33 short rib-polydactyly syndrome, majewski type 11.4
34 clouston syndrome 11.3
35 char syndrome 11.3
36 ectodermal dysplasia 11.2
37 autosomal recessive disease 11.1
38 physical disorder 11.1
39 dwarfism 11.1
40 heart septal defect 10.9
41 dysostosis 10.8
42 atrial heart septal defect 10.8
43 mckusick-kaufman syndrome 10.7
44 taurodontism 10.7
45 chromosome 2q35 duplication syndrome 10.7
46 atrioventricular septal defect 10.6
47 nail disorder, nonsyndromic congenital, 9 10.6
48 achondroplasia 10.6
49 tooth agenesis 10.6
50 respiratory failure 10.6

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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 abnormal heart valve morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0001654
4 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
5 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
6 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
7 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
8 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
9 foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001829
10 neonatal short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008921
11 nail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002164
12 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
13 atrioventricular canal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0006695
14 abnormal oral mucosa morphology 32 hallmark (90%) HP:0011830
15 abnormal fingernail morphology 32 hallmark (90%) HP:0001231
16 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
17 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
18 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
20 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
21 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
22 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
23 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
24 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
25 aplasia/hypoplasia of the lungs 59 32 frequent (33%) Frequent (79-30%) HP:0006703
26 situs inversus totalis 59 32 frequent (33%) Frequent (79-30%) HP:0001696
27 epispadias 59 32 frequent (33%) Frequent (79-30%) HP:0000039
28 abnormal oral frenulum morphology 59 32 frequent (33%) Frequent (79-30%) HP:0000190
29 capitate-hamate fusion 59 32 frequent (33%) Frequent (79-30%) HP:0001241
30 conical incisor 59 32 frequent (33%) Frequent (79-30%) HP:0011065
31 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
32 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
33 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
34 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
35 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
36 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
37 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
38 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
39 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
40 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
41 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
42 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
43 abnormality of bone marrow cell morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005561
44 abnormality of the dentition 59 Very frequent (99-80%)
45 pectus carinatum 32 HP:0000768
46 abnormality of the nail 59 Very frequent (99-80%)
47 malformation of the heart and great vessels 59 Very frequent (99-80%)
48 short long bone 32 HP:0003026
49 abnormality of the fingernails 59 Very frequent (99-80%)
50 abnormality of the skeletal system 59 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
centrifugal shortening of limbs
fusion of capitate and hamate
short, thickened tubular bones

Chest External Features:
narrow chest

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

Genitourinary External Genitalia Male:
hypospadias
epispadias

Head And Neck Teeth:
hypodontia
neonatal teeth
delayed eruption

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

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short, poorly developed ribs

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
postaxial polydactyly

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

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

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
2 craniofacial MP:0005382 10.13 DYNC2H1 EVC EVC2 GLI1 GLI2 IFT80
3 growth/size/body region MP:0005378 10.06 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
4 limbs/digits/tail MP:0005371 10 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
5 embryo MP:0005380 9.97 DYNC2H1 DYNC2LI1 GLI1 GLI2 MSX1 TTC21B
6 mortality/aging MP:0010768 9.9 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
7 digestive/alimentary MP:0005381 9.88 DYNC2H1 GLI1 GLI2 MSX1 WDR19 WDR35
8 nervous system MP:0003631 9.61 DYNC2H1 DYNC2LI1 GLI1 GLI2 MSX1 NEK1
9 skeleton MP:0005390 9.32 DYNC2H1 EVC EVC2 GLI2 IFT80 MSX1

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
2 Genetic Studies in the Amish and Mennonites Completed NCT00359580

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 Chondroectodermal Dysplasia 29 EVC EVC2
2 Ellis-Van Creveld Syndrome 29

Anatomical Context for Ellis-Van Creveld Syndrome

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

41
Bone, Heart, Lung, Skin, Kidney, Bone Marrow, Eye

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 409)
# Title Authors PMID Year
1
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. 9 38 8 71
12468274 2002
2
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 9 38 8 71
10700184 2000
3
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 38 8 71
21815252 2011
4
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. 38 8 71
12571802 2003
5
Ellis-van Creveld syndrome and the Amish. 38 8 71
10700162 2000
6
Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. 38 8 71
7635486 1995
7
Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. 38 8 71
7218275 1980
8
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. 38 8 71
14217223 1964
9
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 9 38 8
17024374 2007
10
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 38 8
23220543 2013
11
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 38 71
19876929 2009
12
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. 38 8
15844783 2005
13
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. 38 8
15054850 2004
14
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. 38 8
9399901 1997
15
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. 38 8
8882877 1996
16
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. 38 8
8661097 1996
17
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? 38 8
7628126 1995
18
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. 38 8
7702088 1995
19
Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). 38 8
8465854 1993
20
Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation? 38 8
1435447 1992
21
Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? 38 8
1877634 1991
22
Dandy-Walker malformation in Ellis-van Creveld syndrome. 38 8
3223493 1988
23
Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. 38 8
3367352 1988
24
Natal teeth. 38 8
3946356 1986
25
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. 38 8
6709909 1984
26
Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract. 38 8
6881201 1983
27
A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment. 38 8
6938130 1980
28
Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. 38 8
876300 1977
29
Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings. 38 8
5568596 1971
30
Ellis-van Creveld syndrome associated with complete situs inversus. 38 8
5770269 1969
31
Chondroectodermal dysplasia (Ellis-Van Creveld syndrome) with a complex cardiac malformation. 38 8
13717019 1961
32
Ellis-Van Creveld syndrome. Report of two cases. 38 8
13793041 1960
33
The human gene mutation database. 71
9066272 1997
34
Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. 8
8960501 1997
35
Post-axial hexodactily and single atrium: a new syndrome? 8
8034288 1994
36
[Not Available]. 8
13381673 1956
37
A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases. 8
21032169 1940
38
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. 9 38
19251731 2009
39
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. 9 38
18947413 2008
40
Ellis-van Creveld syndrome. 9 38
17392984 2006
41
[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome]. 9 38
15884406 2005
42
Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. 9 38
11376442 2000
43
Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome. 38
31338997 2019
44
Ellis-van Creveld syndrome in a patient from Tanzania. 38
31350806 2019
45
Down-regulated WDR35 contributes to fetal anomaly via regulation of osteogenic differentiation. 38
30790652 2019
46
Usher syndrome in a patient with Ellis-van Creveld syndrome. 38
30991842 2019
47
Oral manifestations of ellis-van creveld syndrome. A rare case report. 38
31001402 2019
48
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. 38
30556660 2018
49
Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders. 38
30306082 2018
50
Anaesthetic challenges of Ellis-van Creveld syndrome. 38
29574289 2018

Variations for Ellis-Van Creveld Syndrome

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6 (show top 50) (show all 477)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EVC2 NM_147127.5(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 4:5633522-5633522 4:5631795-5631795
2 EVC NM_153717.3(EVC): c.1668C> G (p.Tyr556Ter) single nucleotide variant Pathogenic rs765269619 4:5785383-5785383 4:5783656-5783656
3 EVC NM_153717.3(EVC): c.1539del (p.Glu514fs) deletion Pathogenic rs759106605 4:5758065-5758065 4:5756338-5756338
4 EVC NM_153717.3(EVC): c.1684C> T (p.Gln562Ter) single nucleotide variant Pathogenic rs751772225 4:5785399-5785399 4:5783672-5783672
5 EVC NM_153717.3(EVC): c.1405_1415dup (p.Ser472fs) duplication Pathogenic rs1553876034 4:5755601-5755611 4:5753874-5753884
6 EVC2 NM_147127.5(EVC2): c.3634delinsGA (p.Leu1212fs) indel Pathogenic rs1553812417 4:5567010-5567010 4:5565283-5565283
7 EVC NM_153717.3(EVC): c.1554dup (p.Leu519fs) duplication Pathogenic rs1553876870 4:5758080-5758080 4:5756353-5756353
8 EVC2 NM_147127.5(EVC2): c.1024A> T (p.Lys342Ter) single nucleotide variant Pathogenic rs767072839 4:5664955-5664955 4:5663228-5663228
9 EVC NM_153717.3(EVC): c.873dup (p.Glu292Ter) duplication Pathogenic rs527255616 4:5747001-5747001 4:5745275-5745275
10 EVC2 NM_147127.5(EVC2): c.3660del (p.Ser1220fs) deletion Pathogenic rs753581033 4:5564841-5564842 4:5563115-5563115
11 EVC NM_153717.3(EVC): c.1056_1059dup (p.Glu354fs) duplication Pathogenic rs1553873969 4:5749989-5749989 4:5748264-5748267
12 EVC NM_153717.3(EVC): c.1813C> T (p.Gln605Ter) single nucleotide variant Pathogenic rs1553889992 4:5795371-5795371 4:5793644-5793644
13 EVC2 NM_147127.5(EVC2): c.2029C> T (p.Arg677Ter) single nucleotide variant Pathogenic rs73198165 4:5627493-5627493 4:5625766-5625766
14 EVC NM_153717.3(EVC): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs1553857801 4:5713109-5713109 4:5711382-5711382
15 EVC2 NM_147127.5(EVC2): c.745C> T (p.Gln249Ter) single nucleotide variant Pathogenic rs1236566474 4:5687168-5687168 4:5685441-5685441
16 EVC NM_153717.3(EVC): c.1694del (p.Ala565fs) deletion Pathogenic rs753014919 4:5785408-5785409 4:5783682-5783682
17 EVC2 EVC2, 1-BP DEL, 3660C deletion Pathogenic
18 EVC2 EVC2, 5-BP INS, NT198 insertion Pathogenic
19 EVC2 EVC2, 1-BP INS, 2056C insertion Pathogenic
20 EVC2 NM_147127.5(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 4:5642516-5642516 4:5640789-5640789
21 EVC2 NM_147127.5(EVC2): c.1855C> T (p.Gln619Ter) single nucleotide variant Pathogenic rs137852925 4:5630317-5630317 4:5628590-5628590
22 EVC2 NM_147127.5(EVC2): c.848T> G (p.Ile283Arg) single nucleotide variant Pathogenic rs137852926 4:5683009-5683009 4:5681282-5681282
23 EVC2 NM_147127.5(EVC2): c.3265C> T (p.Gln1089Ter) single nucleotide variant Pathogenic rs137852927 4:5577974-5577974 4:5576247-5576247
24 EVC NM_153717.3(EVC): c.1886+5G> T single nucleotide variant Pathogenic rs794726665 4:5795449-5795449 4:5793722-5793722
25 EVC NM_153717.3(EVC): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs121908424 4:5810001-5810001 4:5808274-5808274
26 EVC NM_153717.3(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 4:5749953-5749953 4:5748226-5748226
27 EVC NM_153717.3(EVC): c.735del (p.Asp246fs) deletion Pathogenic rs587776619 4:5743475-5743475 4:5741748-5741748
28 EVC NM_153717.3(EVC): c.2457del (p.Met820fs) deletion Pathogenic rs794726666 4:5806464-5806464 4:5804737-5804737
29 EVC2 EVC2, IVS5, A-G, -2 single nucleotide variant Pathogenic
30 EVC2 NM_147127.5(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 4:5620258-5620258 4:5618531-5618531
31 EVC2 NM_147127.5(EVC2): c.2746del (p.Ser916fs) deletion Pathogenic rs886037763 4:5617232-5617232 4:5615505-5615505
32 EVC2 NM_147127.5(EVC2): c.2476C> T (p.Arg826Ter) single nucleotide variant Pathogenic rs548681312 4:5624289-5624289 4:5622562-5622562
33 EVC NC_000004.11: g.(?_5798729)_(5798979_?)del deletion Pathogenic 4:5798729-5798979 4:5797002-5797252
34 EVC2 NM_147127.5(EVC2): c.392dup (p.Pro132fs) duplication Pathogenic 4:5696120-5696120 4:5694393-5694393
35 EVC NM_153717.3(EVC): c.1312del (p.Arg438fs) deletion Pathogenic 4:5754776-5754776 4:5753049-5753049
36 EVC2 NM_147127.5(EVC2): c.341C> G (p.Ser114Ter) single nucleotide variant Pathogenic 4:5696171-5696171 4:5694444-5694444
37 EVC NM_153717.3(EVC): c.801dup (p.Asp268fs) duplication Pathogenic 4:5743541-5743541 4:5741814-5741814
38 EVC2 NC_000004.11: g.(?_5690874)_(5691080_?)del deletion Pathogenic 4:5690874-5691080 4:5689147-5689353
39 EVC2 NM_147127.5(EVC2): c.707-2A> C single nucleotide variant Pathogenic 4:5687208-5687208 4:5685481-5685481
40 EVC NM_153717.3(EVC): c.724dup (p.Met242fs) duplication Pathogenic 4:5743464-5743464 4:5741737-5741737
41 EVC2 NM_147127.5(EVC2): c.2092C> T (p.Arg698Ter) single nucleotide variant Pathogenic 4:5624673-5624673 4:5622946-5622946
42 EVC2 NM_147127.5(EVC2): c.2368C> T (p.Gln790Ter) single nucleotide variant Pathogenic 4:5624397-5624397 4:5622670-5622670
43 EVC2 NM_147127.5(EVC2): c.3205C> T (p.Gln1069Ter) single nucleotide variant Pathogenic 4:5578034-5578034 4:5576307-5576307
44 EVC2 NM_147127.5(EVC2): c.3640del (p.Ala1214fs) deletion Pathogenic 4:5567004-5567004 4:5565279-5565279
45 EVC2 NM_147127.5(EVC2): c.3762del (p.Val1255fs) deletion Pathogenic 4:5564740-5564740 4:5563013-5563013
46 EVC2 NM_147127.5(EVC2): c.3659+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs200300612 4:5566983-5566983 4:5565256-5565256
47 EVC NM_153717.3(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 4:5747048-5747048 4:5745321-5745321
48 EVC2 NM_147127.5(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751356206 4:5624502-5624502 4:5622775-5622775
49 EVC2 NM_147127.5(EVC2): c.142_151del (p.Asp49fs) deletion Pathogenic/Likely pathogenic rs1221185345 4:5710089-5710099 4:5708363-5708372
50 EVC NM_153717.3(EVC): c.2304+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs1553892090 4:5800521-5800521 4:5798794-5798794

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

74
# 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:

37
# 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
12.48 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43
2
Show member pathways
12.15 WDR35 WDR19 TTC21B GLI2 GLI1 EVC2
3 11.76 MSX1 GLI2 GLI1
4 10.91 MSX1 GLI2 GLI1
5 10.84 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43

GO Terms for Ellis-Van Creveld Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.93 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43
2 centrosome GO:0005813 9.92 WDR60 WDR35 NEK1 IFT80 DYNC2LI1
3 microtubule organizing center GO:0005815 9.86 WDR35 NEK1 IFT43 DYNC2LI1
4 axoneme GO:0005930 9.77 WDR35 GLI2 GLI1 DYNC2LI1 DYNC2H1
5 motile cilium GO:0031514 9.76 WDR19 GLI2 DYNC2LI1 DYNC2H1
6 ciliary basal body GO:0036064 9.71 WDR35 EVC DYNC2LI1
7 ciliary membrane GO:0060170 9.69 EVC2 EVC EFCAB7
8 ciliary base GO:0097546 9.65 WDR60 GLI2 GLI1
9 ciliary tip GO:0097542 9.65 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43
10 cytoplasmic dynein complex GO:0005868 9.61 WDR60 DYNC2LI1 DYNC2H1
11 plasma membrane protein complex GO:0098797 9.58 EVC2 EVC EFCAB7
12 intraciliary transport particle A GO:0030991 9.56 WDR35 WDR19 TTC21B IFT43
13 pericentriolar material GO:0000242 9.55 WDR60 NEK1
14 dynein complex GO:0030286 9.49 DYNC2LI1 DYNC2H1
15 cilium GO:0005929 9.44 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43
16 cytoskeleton GO:0005856 10.02 WDR35 WDR19 TTC21B NEK1 IFT80 IFT43

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.87 WDR60 WDR35 WDR19 NEK1 IFT43 DYNC2LI1
2 cilium assembly GO:0060271 9.86 WDR60 WDR35 WDR19 NEK1 IFT80 IFT43
3 osteoblast differentiation GO:0001649 9.74 IFT80 GLI2 GLI1
4 embryonic limb morphogenesis GO:0030326 9.72 WDR19 MSX1 DYNC2H1
5 smoothened signaling pathway GO:0007224 9.7 WDR19 TTC21B IFT80 GLI2 GLI1 EVC2
6 dorsal/ventral pattern formation GO:0009953 9.69 GLI2 GLI1 DYNC2H1
7 pituitary gland development GO:0021983 9.65 MSX1 GLI2 GLI1
8 protein localization to cilium GO:0061512 9.63 WDR35 TTC21B DYNC2H1
9 liver regeneration GO:0097421 9.61 WDR35 GLI1
10 bone morphogenesis GO:0060349 9.6 MSX1 IFT80
11 positive regulation of DNA replication GO:0045740 9.59 GLI2 GLI1
12 proximal/distal pattern formation GO:0009954 9.58 GLI2 GLI1
13 spinal cord motor neuron differentiation GO:0021522 9.58 GLI2 DYNC2H1
14 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.56 WDR19 GLI2
15 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.54 GLI2 GLI1
16 positive regulation of smoothened signaling pathway GO:0045880 9.54 GLI1 EVC DYNC2H1
17 cerebellar cortex morphogenesis GO:0021696 9.52 GLI2 GLI1
18 ventral midline development GO:0007418 9.49 GLI2 GLI1
19 notochord regression GO:0060032 9.43 GLI2 GLI1
20 intraciliary retrograde transport GO:0035721 9.43 WDR35 WDR19 TTC21B IFT43 DYNC2LI1 DYNC2H1
21 regulation of smoothened signaling pathway GO:0008589 9.4 TTC21B GLI1
22 intraciliary transport involved in cilium assembly GO:0035735 9.23 WDR60 WDR35 WDR19 TTC21B IFT80 IFT43

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 9.16 WDR60 DYNC2H1
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.96 DYNC2LI1 DYNC2H1
3 dynein heavy chain binding GO:0045504 8.62 WDR60 DYNC2LI1

Sources for Ellis-Van Creveld Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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