EVC
MCID: ELL001
MIFTS: 59

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 53 25 75 37 29 13 55 6 44 15 40 73
Chondroectodermal Dysplasia 57 12 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
Ellisvan Creveld Syndrome 76
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 short-rib thoracic dysplasia 7 with or without 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 lung, and related phenotypes are genu valgum and intellectual disability

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.

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.

Wikipedia : 76 Ellis´┐Ż??van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but... 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 65)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 32.8 EVC EVC2
2 short-rib thoracic dysplasia 7 with or without polydactyly 32.8 INTU WDR35
3 acrofacial dysostosis 32.2 EVC EVC2
4 short-rib thoracic dysplasia 1 with or without polydactyly 32.1 DYNC2H1 DYNC2LI1 EVC2 IFT80 TTC21B WDR19
5 short-rib thoracic dysplasia 6 with or without polydactyly 32.0 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
6 polydactyly, postaxial, type a1 31.9 EVC EVC2
7 short-rib thoracic dysplasia 12 31.8 EVC2 IFT80 NEK1 TTC21B WDR19
8 clouston syndrome 31.7 EVC EVC2
9 cranioectodermal dysplasia 1 31.7 DYNC2H1 IFT43 IFT80 TTC21B WDR19 WDR35
10 short-rib thoracic dysplasia 3 with or without polydactyly 31.4 DYNC2H1 DYNC2LI1 EVC IFT80 NEK1 TCTEX1D2
11 polydactyly 30.5 DYNC2H1 DYNC2LI1 EVC NEK1 TCTEX1D2 TTC21B
12 nephronophthisis 30.4 IFT43 TTC21B WDR19
13 asphyxiating thoracic dystrophy 29.7 DYNC2H1 DYNC2LI1 IFT80 NEK1 TCTEX1D2 TTC21B
14 axial mesodermal dysplasia spectrum 12.4
15 chondroectodermal dysplasia with night blindness 12.3
16 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
17 short-rib thoracic dysplasia 2 with or without polydactyly 11.6
18 short-rib thoracic dysplasia 4 with or without polydactyly 11.6
19 short-rib thoracic dysplasia 5 with or without polydactyly 11.6
20 short-rib thoracic dysplasia 8 with or without polydactyly 11.6
21 short-rib thoracic dysplasia 10 with or without polydactyly 11.6
22 short-rib thoracic dysplasia 11 with or without polydactyly 11.6
23 short-rib thoracic dysplasia 14 with polydactyly 11.6
24 short-rib thoracic dysplasia 15 with polydactyly 11.6
25 short-rib thoracic dysplasia 16 with or without polydactyly 11.6
26 short-rib thoracic dysplasia 17 with or without polydactyly 11.6
27 short-rib thoracic dysplasia 18 with polydactyly 11.6
28 short-rib thoracic dysplasia 19 with or without polydactyly 11.6
29 short-rib thoracic dysplasia 20 with polydactyly 11.6
30 atelosteogenesis, type i 11.4
31 boomerang dysplasia 11.4
32 ritscher-schinzel syndrome 1 11.4
33 short-rib thoracic dysplasia 13 with or without polydactyly 11.4
34 atrioventricular septal defect 11.2
35 char syndrome 11.1
36 acute hemorrhagic conjunctivitis 11.1
37 ventricular septal defect 11.1
38 atrial heart septal defect 11.0
39 ectodermal dysplasia 10.7
40 heart disease 10.6
41 dysostosis 10.5
42 dandy-walker complex 10.5
43 dwarfism 10.5
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
45 craniosynostosis 10.4
46 autosomal recessive disease 10.4
47 synpolydactyly 10.4
48 renal-hepatic-pancreatic dysplasia 10.4
49 nephrotic syndrome 10.4
50 facial hemiatrophy 10.4

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

Genitourinary External Genitalia Male:
hypospadias
epispadias

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
postaxial polydactyly

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 talipes equinovarus 32 HP:0001762
49 hypoplastic iliac wing 32 HP:0002866
50 abnormality of the kidney 59 Frequent (79-30%)

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 IFT80
2 growth/size/body region MP:0005378 10.11 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 IFT80
3 craniofacial MP:0005382 10.09 DYNC2H1 EVC EVC2 GLI1 IFT80 MSX1
4 limbs/digits/tail MP:0005371 10.06 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 IFT80
5 embryo MP:0005380 10.01 DYNC2H1 DYNC2LI1 GLI1 INTU MSX1 TTC21B
6 mortality/aging MP:0010768 10 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 IFT80
7 nervous system MP:0003631 9.81 DYNC2H1 DYNC2LI1 GLI1 INTU MSX1 NEK1
8 renal/urinary system MP:0005367 9.43 DYNC2H1 GLI1 IFT80 INTU NEK1 TTC21B
9 skeleton MP:0005390 9.36 DYNC2H1 EVC EVC2 IFT80 INTU MSX1

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, Thyroid

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 226)
# 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
Marked Hypoplasia of the Distal Phalanges in Ellis-Van Creveld Syndrome. ( 30039054 )
2018
5
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. ( 30556660 )
2018
6
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. ( 28973407 )
2017
7
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
8
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. ( 28857138 )
2017
9
Successful Two-step Correction for Severe Genu Valgum in Ellis-van Creveld Syndrome: A Case Report. ( 29181344 )
2017
10
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. ( 29321360 )
2017
11
Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report. ( 28969186 )
2017
12
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. ( 29456477 )
2017
13
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. ( 28854412 )
2017
14
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. ( 27076836 )
2016
15
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. ( 27325544 )
2016
16
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. ( 27453244 )
2016
17
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ( 26621368 )
2016
18
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. ( 27039477 )
2016
19
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. ( 26580685 )
2016
20
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
21
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. ( 26748586 )
2016
22
Ellis-Van Creveld syndrome in siblings: A rare case report. ( 27829775 )
2016
23
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
24
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. ( 26258022 )
2015
25
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. ( 26106249 )
2015
26
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. ( 26000085 )
2015
27
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. ( 26625674 )
2015
28
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. ( 26077781 )
2015
29
Ellis-van Creveld syndrome presenting in the second decade. ( 26323981 )
2015
30
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. ( 25939880 )
2015
31
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. ( 27522746 )
2015
32
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. ( 26064711 )
2015
33
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. ( 25478422 )
2014
34
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
35
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. ( 24488845 )
2014
36
Chondroectodermal dysplasia: a rare syndrome. ( 25628672 )
2014
37
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
38
Ellis-van Creveld syndrome: its history. ( 23754541 )
2013
39
Ellis-van Creveld syndrome. ( 23843404 )
2013
40
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. ( 24168757 )
2013
41
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ( 24432110 )
2013
42
Ellis-van Creveld syndrome: A rare clinical entity. ( 23798848 )
2013
43
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. ( 23924873 )
2013
44
Ellis-van Creveld Syndrome: A Case Report. ( 25206139 )
2012
45
Late survival in Ellis-van Creveld syndrome - a case report. ( 22929827 )
2012
46
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. ( 23026208 )
2012
47
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. ( 21470865 )
2012
48
Recurrent knee valgus deformity in Ellis-van Creveld syndrome. ( 21478762 )
2012
49
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 22286269 )
2012
50
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

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 EVC p.Arg443Gln VAR_009946 rs35953626
2 EVC p.Ser206Asn VAR_066447 rs101794605
3 EVC p.Leu623Pro VAR_066448
4 EVC2 p.Ile283Arg VAR_017209 rs137852926
5 EVC2 p.Arg950Trp VAR_017211 rs137852928

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6 (show top 50) (show all 896)
# 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_147127.4(EVC2): c.3265C> T (p.Gln1089Ter) single nucleotide variant Pathogenic rs137852927 GRCh37 Chromosome 4, 5577974: 5577974
11 EVC2 NM_147127.4(EVC2): c.3265C> T (p.Gln1089Ter) single nucleotide variant Pathogenic rs137852927 GRCh38 Chromosome 4, 5576247: 5576247
12 EVC2 NM_147127.4(EVC2): c.2848C> T (p.Arg950Trp) single nucleotide variant Uncertain significance rs137852928 GRCh37 Chromosome 4, 5586559: 5586559
13 EVC2 NM_147127.4(EVC2): c.2848C> T (p.Arg950Trp) single nucleotide variant Uncertain significance rs137852928 GRCh38 Chromosome 4, 5584832: 5584832
14 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
15 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/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.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh37 Chromosome 4, 5755524: 5755524
23 EVC NM_153717.2(EVC): c.1328G> A (p.Arg443Gln) single nucleotide variant Benign rs35953626 GRCh38 Chromosome 4, 5753797: 5753797
24 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
25 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121908426 GRCh38 Chromosome 4, 5745321: 5745321
26 EVC NM_153717.2(EVC): c.2457delG (p.Met820Trpfs) deletion Pathogenic rs794726666 GRCh37 Chromosome 4, 5806464: 5806464
27 EVC NM_153717.2(EVC): c.2457delG (p.Met820Trpfs) deletion Pathogenic rs794726666 GRCh38 Chromosome 4, 5804737: 5804737
28 EVC2 EVC2, IVS5, A-G, -2 single nucleotide variant Pathogenic
29 EVC2 NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 GRCh37 Chromosome 4, 5620258: 5620258
30 EVC2 NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 GRCh38 Chromosome 4, 5618531: 5618531
31 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh37 Chromosome 4, 5755542: 5755542
32 EVC NM_153717.2(EVC): c.1346C> A (p.Thr449Lys) single nucleotide variant Benign rs2302075 GRCh38 Chromosome 4, 5753815: 5753815
33 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh37 Chromosome 4, 5755516: 5755516
34 EVC NM_153717.2(EVC): c.1320T> A (p.Phe440Leu) single nucleotide variant Benign rs60582583 GRCh38 Chromosome 4, 5753789: 5753789
35 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh37 Chromosome 4, 5710119: 5710119
36 EVC; EVC2 NM_147127.4(EVC2): c.122C> A (p.Pro41His) single nucleotide variant Conflicting interpretations of pathogenicity rs544397395 GRCh38 Chromosome 4, 5708392: 5708392
37 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh37 Chromosome 4, 5713115: 5713115
38 EVC NM_153717.2(EVC): c.8G> C (p.Arg3Pro) single nucleotide variant Uncertain significance rs756852655 GRCh38 Chromosome 4, 5711388: 5711388
39 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh37 Chromosome 4, 5642347: 5642347
40 EVC2 NM_147127.4(EVC2): c.1364C> G (p.Thr455Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141287105 GRCh38 Chromosome 4, 5640620: 5640620
41 EVC2 NM_147127.4(EVC2): c.1437A> G (p.Glu479=) single nucleotide variant Benign rs13131655 GRCh37 Chromosome 4, 5642274: 5642274
42 EVC2 NM_147127.4(EVC2): c.1437A> G (p.Glu479=) single nucleotide variant Benign rs13131655 GRCh38 Chromosome 4, 5640547: 5640547
43 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh37 Chromosome 4, 5795384: 5795384
44 EVC NM_153717.2(EVC): c.1826G> A (p.Arg609Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs41269557 GRCh38 Chromosome 4, 5793657: 5793657
45 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh37 Chromosome 4, 5795413: 5795413
46 EVC NM_153717.2(EVC): c.1855G> A (p.Val619Ile) single nucleotide variant Benign/Likely benign rs111293777 GRCh38 Chromosome 4, 5793686: 5793686
47 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh37 Chromosome 4, 5624614: 5624614
48 EVC2 NM_147127.4(EVC2): c.2151C> T (p.His717=) single nucleotide variant Benign/Likely benign rs144584049 GRCh38 Chromosome 4, 5622887: 5622887
49 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751356206 GRCh37 Chromosome 4, 5624502: 5624502
50 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751356206 GRCh38 Chromosome 4, 5622775: 5622775

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

GO Terms for Ellis-Van Creveld Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.91 DYNC2LI1 IFT80 NEK1 TCTEX1D2 WDR35
2 cell projection GO:0042995 9.9 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 IFT43
3 microtubule organizing center GO:0005815 9.83 DYNC2LI1 IFT43 NEK1 WDR35
4 motile cilium GO:0031514 9.78 DYNC2H1 DYNC2LI1 INTU WDR19
5 axoneme GO:0005930 9.77 DYNC2H1 DYNC2LI1 GLI1 TCTEX1D2 WDR35
6 ciliary basal body GO:0036064 9.76 DYNC2LI1 EVC INTU WDR35
7 cilium GO:0005929 9.7 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 GLI1
8 ciliary membrane GO:0060170 9.67 EFCAB7 EVC EVC2
9 cytoplasmic dynein complex GO:0005868 9.61 DYNC2H1 DYNC2LI1 TCTEX1D2
10 plasma membrane protein complex GO:0098797 9.58 EFCAB7 EVC EVC2
11 intraciliary transport particle A GO:0030991 9.56 IFT43 TTC21B WDR19 WDR35
12 dynein complex GO:0030286 9.55 DYNC2H1 DYNC2LI1
13 ciliary base GO:0097546 9.54 GLI1 TCTEX1D2
14 ciliary tip GO:0097542 9.23 DYNC2H1 DYNC2LI1 GLI1 IFT43 IFT80 TTC21B
15 cytoskeleton GO:0005856 10.06 DYNC2H1 DYNC2LI1 EVC EVC2 IFT43 IFT80

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.87 DYNC2H1 DYNC2LI1 IFT43 INTU NEK1 WDR19
2 cilium assembly GO:0060271 9.81 DYNC2H1 DYNC2LI1 IFT43 IFT80 INTU NEK1
3 positive regulation of smoothened signaling pathway GO:0045880 9.77 DYNC2H1 EVC GLI1 IFT80 INTU
4 smoothened signaling pathway GO:0007224 9.73 EVC EVC2 GLI1 IFT80 TTC21B WDR19
5 embryonic limb morphogenesis GO:0030326 9.65 DYNC2H1 MSX1 WDR19
6 non-motile cilium assembly GO:1905515 9.63 DYNC2H1 IFT80 INTU
7 protein localization to cilium GO:0061512 9.61 DYNC2H1 TTC21B WDR35
8 regulation of smoothened signaling pathway GO:0008589 9.58 GLI1 INTU TTC21B
9 dorsal/ventral pattern formation GO:0009953 9.54 DYNC2H1 GLI1
10 liver regeneration GO:0097421 9.52 GLI1 WDR35
11 bone morphogenesis GO:0060349 9.51 IFT80 MSX1
12 intraciliary transport involved in cilium assembly GO:0035735 9.5 DYNC2H1 DYNC2LI1 IFT43 IFT80 TTC21B WDR19
13 pituitary gland development GO:0021983 9.49 GLI1 MSX1
14 intraciliary retrograde transport GO:0035721 9.1 DYNC2H1 DYNC2LI1 IFT43 TTC21B WDR19 WDR35

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

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 8.96 DYNC2H1 TCTEX1D2
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DYNC2H1 DYNC2LI1

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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