EVC
MCID: ELL001
MIFTS: 60

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 58 12 77 54 26 76 38 30 13 56 6 45 15 41 74
Chondroectodermal Dysplasia 58 12 77 54 26 60 76 30 6
Mesoectodermal Dysplasia 58 54 76 74
Evc 58 76
Ellis-Van Creveld Dysplasia 26
Ellis Van Creveld Syndrome 60
Mesodermic Dysplasia 60

Characteristics:

Orphanet epidemiological data:

60
ellis van creveld syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in eastern pennsylvania amish


HPO:

33
ellis-van creveld syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ellis-Van Creveld Syndrome

NIH Rare Diseases : 54 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 bone marrow, and related phenotypes are genu valgum and failure to thrive

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 Ellis–van Creveld syndrome (also called mesoectodermal dysplasia but see ''Nomenclature'' section... 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 77)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 33.5 EVC EVC2
2 short-rib thoracic dysplasia 7 with or without polydactyly 33.5 INTU WDR35
3 acrofacial dysostosis 32.4 EVC EVC2
4 short-rib thoracic dysplasia 1 with or without polydactyly 31.9 DYNC2H1 DYNC2LI1 EVC2 IFT80 TTC21B WDR19
5 short-rib thoracic dysplasia 6 with or without polydactyly 31.8 DYNC2H1 EVC EVC2 IFT80 NEK1 TTC21B
6 short-rib thoracic dysplasia 12 31.8 EVC2 IFT80 NEK1 TTC21B WDR19
7 cranioectodermal dysplasia 1 31.5 DYNC2H1 IFT43 IFT80 TTC21B WDR19 WDR35
8 short-rib thoracic dysplasia 3 with or without polydactyly 31.3 DYNC2H1 DYNC2LI1 EVC IFT80 NEK1 TTC21B
9 polydactyly, postaxial, type a1 31.2 EVC EVC2
10 nephronophthisis 30.2 IFT43 TTC21B WDR19
11 asphyxiating thoracic dystrophy 30.1 DYNC2H1 IFT80 TTC21B WDR19 WDR35
12 polydactyly 30.1 DYNC2H1 DYNC2LI1 EVC GLI2 NEK1 TTC21B
13 axial mesodermal dysplasia spectrum 12.4
14 chondroectodermal dysplasia with night blindness 12.4
15 short-rib thoracic dysplasia 15 with polydactyly 11.9
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 16 with or without polydactyly 11.6
25 short-rib thoracic dysplasia 17 with or without polydactyly 11.6
26 short-rib thoracic dysplasia 18 with polydactyly 11.6
27 short-rib thoracic dysplasia 19 with or without polydactyly 11.6
28 short-rib thoracic dysplasia 20 with polydactyly 11.6
29 atelosteogenesis, type i 11.5
30 boomerang dysplasia 11.5
31 ritscher-schinzel syndrome 1 11.5
32 short-rib thoracic dysplasia 13 with or without polydactyly 11.5
33 atrioventricular septal defect 11.2
34 clouston syndrome 11.2
35 char syndrome 11.2
36 ventricular septal defect 11.2
37 physical disorder 11.0
38 heart septal defect 11.0
39 atrial heart septal defect 11.0
40 ectodermal dysplasia 10.7
41 heart disease 10.6
42 dysostosis 10.5
43 dandy-walker complex 10.5
44 dwarfism 10.5
45 retinitis pigmentosa-deafness syndrome 10.3
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
47 polydactyly, postaxial, type a8 10.3
48 craniosynostosis 10.3
49 usher syndrome 10.3
50 autosomal recessive disease 10.3

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:

60 33 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 60 33 hallmark (90%) Very frequent (99-80%) HP:0002857
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
4 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
5 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
6 hypoplastic toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800
7 hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001161
8 foot polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001829
9 neonatal short-limb short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0008921
10 nail dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002164
11 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
12 atrioventricular canal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0006695
13 abnormal heart valve morphology 33 hallmark (90%) HP:0001654
14 abnormal oral mucosa morphology 33 hallmark (90%) HP:0011830
15 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
16 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
17 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
18 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
19 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
20 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
21 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
22 ventricular septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001629
23 hypodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000668
24 abnormality of pelvic girdle bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0002644
25 aplasia/hypoplasia of the lungs 60 33 frequent (33%) Frequent (79-30%) HP:0006703
26 situs inversus totalis 60 33 frequent (33%) Frequent (79-30%) HP:0001696
27 epispadias 60 33 frequent (33%) Frequent (79-30%) HP:0000039
28 abnormal oral frenulum morphology 60 33 frequent (33%) Frequent (79-30%) HP:0000190
29 capitate-hamate fusion 60 33 frequent (33%) Frequent (79-30%) HP:0001241
30 conical incisor 60 33 frequent (33%) Frequent (79-30%) HP:0011065
31 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
32 delayed skeletal maturation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002750
33 emphysema 60 33 occasional (7.5%) Occasional (29-5%) HP:0002097
34 delayed eruption of teeth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000684
35 cubitus valgus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002967
36 renal hypoplasia/aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0008678
37 abnormal hair quantity 60 33 occasional (7.5%) Occasional (29-5%) HP:0011362
38 acute leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002488
39 thin vermilion border 60 33 occasional (7.5%) Occasional (29-5%) HP:0000233
40 synostosis of carpal bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0005048
41 hydroureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000072
42 abnormality of female internal genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000008
43 abnormality of bone marrow cell morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0005561
44 abnormality of the dentition 60 Very frequent (99-80%)
45 pectus carinatum 33 HP:0000768
46 abnormality of the nail 60 Very frequent (99-80%)
47 abnormality of the heart valves 60 Very frequent (99-80%)
48 malformation of the heart and great vessels 60 Very frequent (99-80%)
49 short long bone 33 HP:0003026
50 abnormality of the fingernails 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
2 craniofacial MP:0005382 10.16 DYNC2H1 EVC EVC2 GLI1 GLI2 IFT80
3 growth/size/body region MP:0005378 10.15 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
4 limbs/digits/tail MP:0005371 10.1 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
5 embryo MP:0005380 10.06 DYNC2H1 DYNC2LI1 GLI1 GLI2 INTU MSX1
6 mortality/aging MP:0010768 10.03 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
7 digestive/alimentary MP:0005381 9.91 DYNC2H1 GLI1 GLI2 MSX1 WDR19 WDR35
8 nervous system MP:0003631 9.85 DYNC2H1 DYNC2LI1 GLI1 GLI2 INTU MSX1
9 renal/urinary system MP:0005367 9.43 DYNC2H1 GLI1 IFT80 INTU NEK1 TTC21B
10 skeleton MP:0005390 9.36 DYNC2H1 EVC EVC2 GLI2 IFT80 INTU

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 30 EVC EVC2
2 Ellis-Van Creveld Syndrome 30

Anatomical Context for Ellis-Van Creveld Syndrome

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

42
Heart, Bone, Bone Marrow, Skin, Kidney, Liver, Thyroid

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 232)
# Title Authors Year
1
Usher syndrome in a patient with Ellis-van Creveld syndrome. ( 30991842 )
2019
2
Oral manifestations of ellis-van creveld syndrome. A rare case report. ( 31001402 )
2019
3
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. ( 28857138 )
2018
4
Ellis-Van Creveld Syndrome in a Neonate. ( 29482704 )
2018
5
Anaesthetic challenges of Ellis-van Creveld syndrome. ( 29574289 )
2018
6
Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach. ( 29607224 )
2018
7
Marked Hypoplasia of the Distal Phalanges in Ellis-Van Creveld Syndrome. ( 30039054 )
2018
8
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. ( 30556660 )
2018
9
Adult Survival in Ellis-van Creveld Syndrome with Common Atrium - A Rare Case Report. ( 28969186 )
2017
10
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. ( 28973407 )
2017
11
Successful Two-step Correction for Severe Genu Valgum in Ellis-van Creveld Syndrome: A Case Report. ( 29181344 )
2017
12
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
13
Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes. ( 29321360 )
2017
14
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family. ( 29456477 )
2017
15
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. ( 28854412 )
2017
16
Ellis-Van Creveld syndrome in siblings: A rare case report. ( 27829775 )
2016
17
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. ( 27453244 )
2016
18
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. ( 27325544 )
2016
19
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. ( 27076836 )
2016
20
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. ( 27039477 )
2016
21
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
22
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. ( 26748586 )
2016
23
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ( 26621368 )
2016
24
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. ( 26580685 )
2016
25
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2015
26
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. ( 26000085 )
2015
27
Ellis van Creveld syndrome in a Tunisian child revealed by an Eisenmenger syndrome. ( 30805457 )
2015
28
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. ( 27522746 )
2015
29
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. ( 26625674 )
2015
30
Ellis-van Creveld syndrome presenting in the second decade. ( 26323981 )
2015
31
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. ( 26258022 )
2015
32
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. ( 26106249 )
2015
33
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. ( 26077781 )
2015
34
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. ( 26064711 )
2015
35
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. ( 25939880 )
2015
36
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
37
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. ( 24168757 )
2015
38
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. ( 25478422 )
2014
39
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. ( 24488845 )
2014
40
Chondroectodermal dysplasia: a rare syndrome. ( 25628672 )
2014
41
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
42
Ellis-van Creveld syndrome: its history. ( 23754541 )
2013
43
Ellis-van Creveld syndrome: A rare clinical entity. ( 23798848 )
2013
44
Ellis-van Creveld syndrome. ( 23843404 )
2013
45
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. ( 23924873 )
2013
46
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ( 24432110 )
2013
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
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. ( 22344360 )
2012

Variations for Ellis-Van Creveld Syndrome

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

76
# 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

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6 (show top 50) (show all 908)
# 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 rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
15 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant 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:

38
# 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 cell projection GO:0042995 9.93 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 GLI2
2 centrosome GO:0005813 9.85 DYNC2LI1 IFT80 NEK1 WDR35
3 microtubule organizing center GO:0005815 9.83 DYNC2LI1 IFT43 NEK1 WDR35
4 motile cilium GO:0031514 9.83 DYNC2H1 DYNC2LI1 GLI2 INTU WDR19
5 axoneme GO:0005930 9.77 DYNC2H1 DYNC2LI1 GLI1 GLI2 WDR35
6 ciliary basal body GO:0036064 9.76 DYNC2LI1 EVC INTU WDR35
7 cilium GO:0005929 9.73 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 GLI1
8 ciliary membrane GO:0060170 9.65 EFCAB7 EVC EVC2
9 plasma membrane protein complex GO:0098797 9.58 EFCAB7 EVC EVC2
10 intraciliary transport particle A GO:0030991 9.56 IFT43 TTC21B WDR19 WDR35
11 ciliary base GO:0097546 9.54 GLI1 GLI2
12 cytoplasmic dynein complex GO:0005868 9.49 DYNC2H1 DYNC2LI1
13 ciliary tip GO:0097542 9.28 DYNC2H1 DYNC2LI1 GLI1 GLI2 IFT43 IFT80
14 cytoplasm GO:0005737 10.29 DYNC2H1 DYNC2LI1 EVC EVC2 GLI1 GLI2
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 26)
# 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 9.86 DYNC2H1 DYNC2LI1 IFT43 IFT80 INTU NEK1
3 osteoblast differentiation GO:0001649 9.77 GLI1 GLI2 IFT80
4 positive regulation of smoothened signaling pathway GO:0045880 9.77 DYNC2H1 EVC GLI1 IFT80 INTU
5 embryonic digit morphogenesis GO:0042733 9.75 GLI2 INTU MSX1
6 embryonic limb morphogenesis GO:0030326 9.74 DYNC2H1 MSX1 WDR19
7 non-motile cilium assembly GO:1905515 9.72 DYNC2H1 IFT80 INTU
8 regulation of smoothened signaling pathway GO:0008589 9.71 GLI1 GLI2 INTU TTC21B
9 smoothened signaling pathway GO:0007224 9.7 EVC EVC2 GLI1 GLI2 IFT80 TTC21B
10 dorsal/ventral pattern formation GO:0009953 9.69 DYNC2H1 GLI1 GLI2
11 pituitary gland development GO:0021983 9.65 GLI1 GLI2 MSX1
12 liver regeneration GO:0097421 9.63 GLI1 WDR35
13 protein localization to cilium GO:0061512 9.63 DYNC2H1 TTC21B WDR35
14 bone morphogenesis GO:0060349 9.62 IFT80 MSX1
15 positive regulation of DNA replication GO:0045740 9.62 GLI1 GLI2
16 proximal/distal pattern formation GO:0009954 9.61 GLI1 GLI2
17 spinal cord motor neuron differentiation GO:0021522 9.61 DYNC2H1 GLI2
18 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.58 GLI2 WDR19
19 spinal cord dorsal/ventral patterning GO:0021513 9.56 GLI2 INTU
20 cerebellar cortex morphogenesis GO:0021696 9.54 GLI1 GLI2
21 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.52 GLI1 GLI2
22 intraciliary transport involved in cilium assembly GO:0035735 9.5 DYNC2H1 DYNC2LI1 IFT43 IFT80 TTC21B WDR19
23 ventral midline development GO:0007418 9.49 GLI1 GLI2
24 notochord regression GO:0060032 9.43 GLI1 GLI2
25 intraciliary retrograde transport GO:0035721 9.1 DYNC2H1 DYNC2LI1 IFT43 TTC21B WDR19 WDR35
26 multicellular organism development GO:0007275 10.08 DYNC2H1 DYNC2LI1 GLI1 GLI2 INTU MSX1

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, minus-end-directed GO:0008569 8.62 DYNC2H1 DYNC2LI1

Sources for Ellis-Van Creveld Syndrome

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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