MCID: ELL001
MIFTS: 60

Ellis-Van Creveld Syndrome

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

Aliases & Classifications for Ellis-Van Creveld Syndrome

MalaCards integrated aliases for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 57 12 53 25 75 29 13 55 6 44 15 40 73
Chondroectodermal Dysplasia 57 76 53 25 59 75 29 6
Mesoectodermal Dysplasia 57 53 75 73
Evc 57 75
Ellis-Van Creveld Dysplasia 25
Ellis Van Creveld Syndrome 59
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:



Summaries for Ellis-Van Creveld Syndrome

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.

MalaCards based summary : Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to weyers acrofacial dysostosis and cranioectodermal dysplasia 1. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include heart, bone and lung, and related phenotypes are genu valgum and intellectual disability

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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 Ellis–van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see... 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 58)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 33.2 EVC EVC2
2 cranioectodermal dysplasia 1 31.2 DYNC2H1 IFT80 TTC21B WDR19 WDR35
3 short-rib thoracic dysplasia 12 31.1 EVC2 IFT80 NEK1 TTC21B WDR19
4 short-rib thoracic dysplasia 6 with or without polydactyly 31.0 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
5 nephronophthisis 29.7 IFT172 TTC21B WDR19
6 polydactyly 28.9 DYNC2H1 DYNC2LI1 NEK1 WDR34 WDR35 WDR60
7 short-rib thoracic dysplasia 1 with or without polydactyly 27.8 CEP120 DYNC2H1 DYNC2LI1 EVC2 IFT172 IFT80
8 short-rib thoracic dysplasia 3 with or without polydactyly 27.6 CEP120 DYNC2H1 DYNC2LI1 EVC IFT80 NEK1
9 asphyxiating thoracic dystrophy 24.7 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT172
10 axial mesodermal dysplasia spectrum 12.2
11 chondroectodermal dysplasia with night blindness 12.2
12 short-rib thoracic dysplasia 9 with or without polydactyly 11.4
13 short-rib thoracic dysplasia 2 with or without polydactyly 11.4
14 short-rib thoracic dysplasia 4 with or without polydactyly 11.4
15 short-rib thoracic dysplasia 7 with or without polydactyly 11.4
16 short-rib thoracic dysplasia 5 with or without polydactyly 11.4
17 short-rib thoracic dysplasia 8 with or without polydactyly 11.4
18 short-rib thoracic dysplasia 10 with or without polydactyly 11.4
19 short-rib thoracic dysplasia 11 with or without polydactyly 11.4
20 short-rib thoracic dysplasia 14 with polydactyly 11.4
21 short-rib thoracic dysplasia 15 with polydactyly 11.4
22 short-rib thoracic dysplasia 16 with or without polydactyly 11.4
23 short-rib thoracic dysplasia 17 with or without polydactyly 11.4
24 short-rib thoracic dysplasia 18 with polydactyly 11.4
25 atelosteogenesis, type i 11.3
26 boomerang dysplasia 11.3
27 ritscher-schinzel syndrome 1 11.3
28 short-rib thoracic dysplasia 13 with or without polydactyly 11.3
29 short-rib thoracic dysplasia 19 with or without polydactyly 11.3
30 short-rib thoracic dysplasia 20 with polydactyly 11.3
31 polydactyly, postaxial, type a1 10.6 EVC EVC2
32 ectodermal dysplasia 10.5
33 dysostosis 10.4
34 dwarfism 10.4
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
36 craniosynostosis 10.2
37 hepatitis 10.2
38 autosomal recessive disease 10.2
39 synpolydactyly 10.2
40 renal-hepatic-pancreatic dysplasia 10.2
41 heart disease 10.2
42 nephrotic syndrome 10.2
43 facial hemiatrophy 10.2
44 intestinal pseudo-obstruction 10.2
45 orofaciodigital syndrome 10.2
46 pancreatitis 10.2
47 situs inversus 10.2
48 esotropia 10.2
49 complete atrioventricular canal 10.2
50 dandy-walker complex 10.2

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

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

Skeletal Feet:
talipes equinovarus
postaxial polydactyly

Skin Nails Hair Nails:
nail dysplasia

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

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
epispadias

Head And Neck Teeth:
hypodontia
neonatal teeth
delayed eruption

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

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

Human phenotypes related to Ellis-Van Creveld Syndrome:

59 32 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
4 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
5 emphysema 59 32 occasional (7.5%) Occasional (29-5%) HP:0002097
6 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
7 delayed eruption of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000684
8 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
10 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
11 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
12 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
13 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
14 cubitus valgus 59 32 occasional (7.5%) Occasional (29-5%) HP:0002967
15 hypoplastic toenails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001800
16 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
17 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
18 renal hypoplasia/aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008678
19 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
20 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
21 hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001161
22 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
23 foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001829
24 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
25 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
26 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
27 neonatal short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008921
28 nail dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002164
29 thin vermilion border 59 32 occasional (7.5%) Occasional (29-5%) HP:0000233
30 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
31 synostosis of carpal bones 59 32 occasional (7.5%) Occasional (29-5%) HP:0005048
32 aplasia/hypoplasia of the lungs 59 32 frequent (33%) Frequent (79-30%) HP:0006703
33 hydroureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000072
34 situs inversus totalis 59 32 frequent (33%) Frequent (79-30%) HP:0001696
35 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
36 epispadias 59 32 frequent (33%) Frequent (79-30%) HP:0000039
37 capitate-hamate fusion 59 32 frequent (33%) Frequent (79-30%) HP:0001241
38 abnormality of bone marrow cell morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0005561
39 atrioventricular canal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0006695
40 conical incisor 59 32 frequent (33%) Frequent (79-30%) HP:0011065
41 abnormality of the dentition 59 Very frequent (99-80%)
42 pectus carinatum 32 HP:0000768
43 abnormality of the nail 59 Very frequent (99-80%)
44 abnormality of the heart valves 59 Very frequent (99-80%)
45 malformation of the heart and great vessels 59 Very frequent (99-80%)
46 short long bone 32 HP:0003026
47 abnormality of the skeletal system 59 Occasional (29-5%)
48 hypoplastic iliac wing 32 HP:0002866
49 abnormality of the kidney 59 Frequent (79-30%)
50 talipes equinovarus 32 HP:0001762

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1
2 craniofacial MP:0005382 10.16 DYNC2H1 EVC EVC2 GLI1 IFT172 IFT80
3 growth/size/body region MP:0005378 10.11 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1
4 embryo MP:0005380 10.06 CEP120 DYNC2H1 DYNC2LI1 GLI1 IFT172 MSX1
5 limbs/digits/tail MP:0005371 10.06 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 IFT172
6 mortality/aging MP:0010768 10.03 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1
7 digestive/alimentary MP:0005381 9.91 DYNC2H1 GLI1 IFT172 MSX1 WDR19 WDR35
8 nervous system MP:0003631 9.81 CEP120 DYNC2H1 DYNC2LI1 GLI1 IFT172 MSX1
9 renal/urinary system MP:0005367 9.43 TTC21B DYNC2H1 GLI1 IFT172 IFT80 NEK1
10 skeleton MP:0005390 9.32 EVC2 IFT172 IFT80 MSX1 NEK1 TTC21B

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Studies in the Amish and Mennonites Completed NCT00359580
2 Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
3 Study of Skeletal Disorders and Short Stature Completed NCT00001754

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
Heart, Bone, Lung, Skin, Kidney, Bone Marrow, Liver

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 208)
# Title Authors Year
1
Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach. ( 29607224 )
2018
2
Anaesthetic challenges of Ellis-van Creveld syndrome. ( 29574289 )
2018
3
Ellis-Van Creveld Syndrome in a Neonate. ( 29482704 )
2018
4
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. ( 28973407 )
2017
5
Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome. ( 29229899 )
2017
6
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. ( 28857138 )
2017
7
Successful Two-step Correction for Severe Genu Valgum in Ellis-van Creveld Syndrome: A Case Report. ( 29181344 )
2017
8
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. ( 29321360 )
2017
9
Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report. ( 28969186 )
2017
10
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. ( 29456477 )
2017
11
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. ( 28854412 )
2017
12
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. ( 27076836 )
2016
13
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. ( 27325544 )
2016
14
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. ( 27453244 )
2016
15
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ( 26621368 )
2016
16
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. ( 27039477 )
2016
17
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. ( 26580685 )
2016
18
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
19
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. ( 26748586 )
2016
20
Ellis-Van Creveld syndrome in siblings: A rare case report. ( 27829775 )
2016
21
SPECIFIC VARIANTS IN WDR35 CAUSE A DISTINCTIVE FORM OF ELLIS-VAN CREVELD SYNDROME BY DISRUPTING THE RECRUITMENT OF THE EvC COMPLEX AND SMO INTO THE CILIUM. ( 25908617 )
2015
22
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. ( 26258022 )
2015
23
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. ( 26106249 )
2015
24
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. ( 26000085 )
2015
25
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. ( 26625674 )
2015
26
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. ( 26077781 )
2015
27
Ellis-van Creveld syndrome presenting in the second decade. ( 26323981 )
2015
28
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. ( 25939880 )
2015
29
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. ( 27522746 )
2015
30
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. ( 26064711 )
2015
31
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. ( 25478422 )
2014
32
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
33
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. ( 24488845 )
2014
34
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
35
Ellis-van Creveld syndrome: its history. ( 23754541 )
2013
36
Ellis-van Creveld syndrome. ( 23843404 )
2013
37
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. ( 24168757 )
2013
38
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ( 24432110 )
2013
39
Ellis-van Creveld syndrome: A rare clinical entity. ( 23798848 )
2013
40
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. ( 23924873 )
2013
41
Ellis-van Creveld Syndrome: A Case Report. ( 25206139 )
2012
42
Late survival in Ellis-van Creveld syndrome - a case report. ( 22929827 )
2012
43
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. ( 23026208 )
2012
44
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. ( 21470865 )
2012
45
Recurrent knee valgus deformity in Ellis-van Creveld syndrome. ( 21478762 )
2012
46
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 22286269 )
2012
47
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. ( 22406498 )
2012
48
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. ( 22344360 )
2012
49
Oral manifestations of Ellis-van Creveld syndrome. ( 22629068 )
2012
50
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. ( 23276573 )
2012

Variations for Ellis-Van Creveld Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 EVC2 p.Ile283Arg VAR_017209 rs137852926
2 EVC2 p.Arg950Trp VAR_017211 rs137852928
3 EVC p.Arg443Gln VAR_009946 rs35953626
4 EVC p.Ser206Asn VAR_066447 rs1017946059Ellis-van
5 EVC p.Leu623Pro VAR_066448

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6
(show top 50) (show all 602)
# Gene Variation Type Significance SNP ID Assembly Location
1 EVC2 EVC2, 1-BP DEL, 3660C deletion Pathogenic
2 EVC2 EVC2, 5-BP INS, NT198 insertion Pathogenic
3 EVC2 EVC2, 1-BP INS, 2056C insertion Pathogenic
4 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
5 EVC2 NM_147127.4(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 GRCh38 Chromosome 4, 5640789: 5640789
6 EVC2 NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter) single nucleotide variant Pathogenic rs137852925 GRCh37 Chromosome 4, 5630317: 5630317
7 EVC2 NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter) single nucleotide variant Pathogenic rs137852925 GRCh38 Chromosome 4, 5628590: 5628590
8 EVC2 NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg) single nucleotide variant Pathogenic rs137852926 GRCh37 Chromosome 4, 5683009: 5683009
9 EVC2 NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg) single nucleotide variant Pathogenic rs137852926 GRCh38 Chromosome 4, 5681282: 5681282
10 EVC2 NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852927 GRCh37 Chromosome 4, 5577974: 5577974
11 EVC2 NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852927 GRCh38 Chromosome 4, 5576247: 5576247
12 EVC2 NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp) single nucleotide variant Pathogenic rs137852928 GRCh37 Chromosome 4, 5586559: 5586559
13 EVC2 NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp) single nucleotide variant Pathogenic rs137852928 GRCh38 Chromosome 4, 5584832: 5584832
14 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
15 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Likely pathogenic rs794726665 GRCh38 Chromosome 4, 5793722: 5793722
16 EVC NM_153717.2(EVC): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs121908424 GRCh37 Chromosome 4, 5810001: 5810001
17 EVC NM_153717.2(EVC): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs121908424 GRCh38 Chromosome 4, 5808274: 5808274
18 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh37 Chromosome 4, 5749953: 5749953
19 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh38 Chromosome 4, 5748226: 5748226
20 EVC NM_153717.2(EVC): c.735delT (p.Asp246Thrfs) deletion Pathogenic rs587776619 GRCh37 Chromosome 4, 5743475: 5743475
21 EVC NM_153717.2(EVC): c.735delT (p.Asp246Thrfs) deletion Pathogenic rs587776619 GRCh38 Chromosome 4, 5741748: 5741748
22 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
23 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh38 Chromosome 4, 5745321: 5745321
24 EVC NM_153717.2(EVC): c.2457delG (p.Met820Trpfs) deletion Pathogenic rs794726666 GRCh37 Chromosome 4, 5806464: 5806464
25 EVC NM_153717.2(EVC): c.2457delG (p.Met820Trpfs) deletion Pathogenic rs794726666 GRCh38 Chromosome 4, 5804737: 5804737
26 EVC2 EVC2, IVS5, A-G, -2 single nucleotide variant Pathogenic
27 EVC2 NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 GRCh37 Chromosome 4, 5620258: 5620258
28 EVC2 NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 GRCh38 Chromosome 4, 5618531: 5618531
29 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh37 Chromosome 4, 5755542: 5755542
30 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh38 Chromosome 4, 5753815: 5753815
31 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh37 Chromosome 4, 5755516: 5755516
32 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh38 Chromosome 4, 5753789: 5753789
33 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh37 Chromosome 4, 5710119: 5710119
34 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh38 Chromosome 4, 5708392: 5708392
35 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh37 Chromosome 4, 5713115: 5713115
36 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh38 Chromosome 4, 5711388: 5711388
37 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh37 Chromosome 4, 5642347: 5642347
38 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh38 Chromosome 4, 5640620: 5640620
39 EVC2 NM_147127.4(EVC2): c.1437A> G (p.Glu479=) single nucleotide variant Benign rs13131655 GRCh37 Chromosome 4, 5642274: 5642274
40 EVC2 NM_147127.4(EVC2): c.1437A> G (p.Glu479=) single nucleotide variant Benign rs13131655 GRCh38 Chromosome 4, 5640547: 5640547
41 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh37 Chromosome 4, 5795384: 5795384
42 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh38 Chromosome 4, 5793657: 5793657
43 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh37 Chromosome 4, 5795413: 5795413
44 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh38 Chromosome 4, 5793686: 5793686
45 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh37 Chromosome 4, 5624614: 5624614
46 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh38 Chromosome 4, 5622887: 5622887
47 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic rs751356206 GRCh37 Chromosome 4, 5624502: 5624502
48 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic rs751356206 GRCh38 Chromosome 4, 5622775: 5622775
49 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh37 Chromosome 4, 5721084: 5721084
50 EVC NM_153717.2(EVC): c.284A> G (p.Asp95Gly) single nucleotide variant Benign/Likely benign rs41269547 GRCh38 Chromosome 4, 5719357: 5719357

Expression for Ellis-Van Creveld Syndrome

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

Pathways for Ellis-Van Creveld Syndrome

GO Terms for Ellis-Van Creveld Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.97 CEP120 DYNC2LI1 IFT80 NEK1 WDR35 WDR60
2 cell projection GO:0042995 9.93 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 IFT172
3 microtubule organizing center GO:0005815 9.86 CEP120 DYNC2LI1 NEK1 WDR35
4 ciliary basal body GO:0036064 9.8 DYNC2LI1 EVC IFT172 WDR34 WDR35
5 cilium GO:0005929 9.77 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 GLI1
6 dynein complex GO:0030286 9.73 DYNC2H1 DYNC2LI1 WDR34 WDR60
7 axoneme GO:0005930 9.73 DYNC2H1 DYNC2LI1 GLI1 IFT172 WDR34 WDR35
8 motile cilium GO:0031514 9.7 DYNC2H1 DYNC2LI1 WDR19
9 ciliary membrane GO:0060170 9.69 EFCAB7 EVC EVC2
10 cytoplasmic dynein complex GO:0005868 9.67 DYNC2H1 DYNC2LI1 WDR34 WDR60
11 plasma membrane protein complex GO:0098797 9.65 EFCAB7 EVC EVC2
12 intraciliary transport particle A GO:0030991 9.63 TTC21B WDR19 WDR35
13 ciliary base GO:0097546 9.57 GLI1 WDR60
14 intraciliary transport particle B GO:0030992 9.55 IFT172 IFT80
15 pericentriolar material GO:0000242 9.54 NEK1 WDR60
16 ciliary tip GO:0097542 9.32 DYNC2H1 DYNC2LI1 GLI1 IFT172 IFT80 TTC21B
17 cytoplasm GO:0005737 10.35 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1
18 cytoskeleton GO:0005856 10.06 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT80

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.8 DYNC2H1 DYNC2LI1 NEK1 WDR19 WDR35 WDR60
2 smoothened signaling pathway GO:0007224 9.73 EVC EVC2 GLI1 IFT172 TTC21B WDR19
3 microtubule-based movement GO:0007018 9.7 DYNC2H1 WDR34 WDR60
4 determination of left/right symmetry GO:0007368 9.67 DYNC2H1 DYNC2LI1 IFT172
5 positive regulation of smoothened signaling pathway GO:0045880 9.67 DYNC2H1 EVC GLI1 IFT172
6 embryonic limb morphogenesis GO:0030326 9.65 DYNC2H1 MSX1 WDR19
7 dorsal/ventral pattern formation GO:0009953 9.63 DYNC2H1 GLI1 IFT172
8 protein localization to cilium GO:0061512 9.61 DYNC2H1 TTC21B WDR35
9 cilium assembly GO:0060271 9.61 DYNC2H1 DYNC2LI1 IFT172 IFT80 NEK1 WDR19
10 regulation of smoothened signaling pathway GO:0008589 9.58 GLI1 IFT172 TTC21B
11 liver regeneration GO:0097421 9.55 GLI1 WDR35
12 intraciliary retrograde transport GO:0035721 9.55 DYNC2H1 DYNC2LI1 TTC21B WDR19 WDR35
13 pituitary gland development GO:0021983 9.54 GLI1 MSX1
14 spinal cord motor neuron differentiation GO:0021522 9.51 DYNC2H1 IFT172
15 intraciliary transport involved in cilium assembly GO:0035735 9.28 DYNC2H1 DYNC2LI1 IFT172 IFT80 TTC21B WDR19

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.26 WDR34 WDR60
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.16 DYNC2H1 DYNC2LI1
3 dynein light chain binding GO:0045503 9.13 DYNC2H1 WDR34 WDR60
4 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 WDR34 WDR60

Sources for Ellis-Van Creveld Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
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74 UMLS via Orphanet
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