MCID: ELL001
MIFTS: 59

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 54 12 50 24 25 71 29 13 52 42 14 69
Chondroectodermal Dysplasia 12 50 24 25 56 71 29
Mesoectodermal Dysplasia 50 24 71 69
Evc 24 71
Ellis-Van Creveld Dysplasia 25
Ellis Van Creveld Syndrome 56
Mesodermic Dysplasia 56

Characteristics:

Orphanet epidemiological data:

56
ellis van creveld syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;

OMIM:

54
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 : 50 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. last updated: 8/5/2015

MalaCards based summary : Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to weyers acrofacial dysostosis and evc-related ellis-van creveld syndrome, and has symptoms including failure to thrive, strabismus and intrauterine growth retardation. 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 cellular and craniofacial

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 : 54
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 : 71 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 : 72 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 60)
id Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 25.0 CEP120 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2
2 evc-related ellis-van creveld syndrome 12.3
3 evc2-related ellis-van creveld syndrome 12.3
4 axial mesodermal dysplasia spectrum 12.1
5 chondroectodermal dysplasia with night blindness 12.1
6 short-rib thoracic dysplasia 8 with or without polydactyly 11.3
7 short-rib thoracic dysplasia 11 with or without polydactyly 11.3
8 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
9 short-rib thoracic dysplasia 15 with polydactyly 11.3
10 short-rib thoracic dysplasia 14 with polydactyly 11.3
11 short-rib thoracic dysplasia 7 with or without polydactyly 11.3
12 short-rib thoracic dysplasia 10 with or without polydactyly 11.3
13 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
14 short-rib thoracic dysplasia 4 with or without polydactyly 11.3
15 short-rib thoracic dysplasia 16 with or without polydactyly 11.3
16 short-rib thoracic dysplasia 2 with or without polydactyly 11.3
17 short-rib thoracic dysplasia 17 with or without polydactyly 11.3
18 short-rib thoracic dysplasia 5 with or without polydactyly 11.3
19 short-rib thoracic dysplasia 6 with or without polydactyly 11.3
20 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
21 ritscher-schinzel syndrome 1 11.2
22 short-rib thoracic dysplasia 1 with or without polydactyly 11.2
23 atelosteogenesis, type i 11.2
24 boomerang dysplasia 11.2
25 short-rib thoracic dysplasia 12 11.2
26 polydactyly 10.5
27 primary lateral sclerosis, adult, 1 10.5 EVC EVC2
28 ectodermal dysplasia 10.5
29 hypothalamic hamartomas, somatic 10.4 EVC EVC2
30 fetal alcohol syndrome 10.4 EVC EVC2
31 dysostosis 10.3
32 dwarfism 10.3
33 chromosomal deletion syndrome 10.3 EVC EVC2
34 synpolydactyly 10.1
35 renal-hepatic-pancreatic dysplasia 10.1
36 heart disease 10.1
37 nephrotic syndrome 10.1
38 nephronophthisis 10.1
39 facial hemiatrophy 10.1
40 intestinal pseudo-obstruction 10.1
41 pancreatitis 10.1
42 craniosynostosis 10.1
43 situs inversus 10.1
44 hepatitis 10.1
45 esotropia 10.1
46 asphyxiating thoracic dystrophy 10.1
47 autosomal recessive disease 10.1
48 dementia, familial british 10.1 EVC EVC2
49 spondyloepimetaphyseal dysplasia, camera-genevieve type 10.0 TTC21B WDR19
50 lymphedema, hereditary, id 10.0 DYNC2H1 IFT80 NEK1

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:

54

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

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

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

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

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- Face:
normal with exception of upper-lip defect

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

Genitourinary- External Genitalia Male:
hypospadias
epispadias

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
talipes equinovarus
postaxial polydactyly

Head And Neck- Teeth:
hypodontia
neonatal teeth
delayed eruption

Skin Nails & Hair- Nails:
nail dysplasia

Head And Neck- Head:
normocephaly

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


Clinical features from OMIM:

225500

Human phenotypes related to Ellis-Van Creveld Syndrome:

56 32 (show top 50) (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 intrauterine growth retardation 56 32 frequent (33%) Frequent (79-30%) HP:0001511
4 hypospadias 56 32 frequent (33%) Frequent (79-30%) HP:0000047
5 hypoplastic toenails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001800
6 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
7 genu valgum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002857
8 narrow chest 56 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
10 ventricular septal defect 56 32 frequent (33%) Frequent (79-30%) HP:0001629
11 thin vermilion border 56 32 occasional (7.5%) Occasional (29-5%) HP:0000233
12 hypodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000668
13 hydroureter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000072
14 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
15 cubitus valgus 56 32 occasional (7.5%) Occasional (29-5%) HP:0002967
16 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
17 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
18 nail dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002164
19 epispadias 56 32 frequent (33%) Frequent (79-30%) HP:0000039
20 emphysema 56 32 occasional (7.5%) Occasional (29-5%) HP:0002097
21 atrioventricular canal defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0006695
22 delayed eruption of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000684
23 short thorax 56 32 hallmark (90%) Very frequent (99-80%) HP:0010306
24 capitate-hamate fusion 56 32 frequent (33%) Frequent (79-30%) HP:0001241
25 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
26 abnormality of the heart valves 56 32 hallmark (90%) Very frequent (99-80%) HP:0001654
27 abnormality of the fingernails 56 32 hallmark (90%) Very frequent (99-80%) HP:0001231
28 abnormal hair quantity 56 32 occasional (7.5%) Occasional (29-5%) HP:0011362
29 hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001161
30 foot polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001829
31 acute leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002488
32 abnormality of pelvic girdle bone morphology 56 32 frequent (33%) Frequent (79-30%) HP:0002644
33 neonatal short-limb short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0008921
34 short distal phalanx of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0009882
35 synostosis of carpal bones 56 32 occasional (7.5%) Occasional (29-5%) HP:0005048
36 aplasia/hypoplasia of the lungs 56 32 frequent (33%) Frequent (79-30%) HP:0006703
37 situs inversus totalis 56 32 frequent (33%) Frequent (79-30%) HP:0001696
38 abnormality of female internal genitalia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000008
39 abnormality of oral frenula 56 32 frequent (33%) Frequent (79-30%) HP:0000190
40 abnormality of bone marrow cell morphology 56 32 occasional (7.5%) Occasional (29-5%) HP:0005561
41 conical incisor 56 32 frequent (33%) Frequent (79-30%) HP:0011065
42 abnormality of oral mucosa 56 32 hallmark (90%) Very frequent (99-80%) HP:0011830
43 atrial septal defect 32 frequent (33%) HP:0001631
44 pectus carinatum 32 HP:0000768
45 short ribs 32 HP:0000773
46 talipes equinovarus 32 HP:0001762
47 dandy-walker malformation 32 HP:0001305
48 horizontal ribs 32 HP:0000888
49 dextrocardia 56 Frequent (79-30%)
50 ectodermal dysplasia 32 HP:0000968

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 IFT140 IFT80 TTC21B WDR19 WDR35 CEP120
2 craniofacial MP:0005382 10.06 IFT80 MSX1 NEK1 TTC21B WDR19 DYNC2H1
3 growth/size/body region MP:0005378 10.02 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140
4 embryo MP:0005380 9.97 CEP120 DYNC2H1 DYNC2LI1 IFT140 MSX1 TTC21B
5 limbs/digits/tail MP:0005371 9.96 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140 IFT80
6 mortality/aging MP:0010768 9.9 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140
7 nervous system MP:0003631 9.56 DYNC2LI1 IFT140 MSX1 NEK1 TTC21B WDR19
8 skeleton MP:0005390 9.32 DYNC2H1 EVC EVC2 IFT140 IFT80 MSX1

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Chondroectodermal Dysplasia 29
2 Ellis-Van Creveld Syndrome 29 24 EVC2

Anatomical Context for Ellis-Van Creveld Syndrome

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

39
Heart, Bone, Lung, Kidney, Skin, Bone Marrow, Liver

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 198)
id Title Authors Year
1
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. ( 28857138 )
2017
2
Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome. ( 28854412 )
2017
3
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. ( 27325544 )
2016
4
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. ( 27076836 )
2016
5
Ellis-Van Creveld syndrome in siblings: A rare case report. ( 27829775 )
2016
6
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. ( 27039477 )
2016
7
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. ( 26748586 )
2016
8
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. ( 27453244 )
2016
9
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
10
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. ( 26580685 )
2016
11
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ( 26621368 )
2016
12
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. ( 26000085 )
2015
13
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. ( 26077781 )
2015
14
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. ( 26625674 )
2015
15
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
16
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. ( 26064711 )
2015
17
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. ( 25939880 )
2015
18
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. ( 26258022 )
2015
19
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. ( 26106249 )
2015
20
Ellis-van Creveld syndrome presenting in the second decade. ( 26323981 )
2015
21
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. ( 27522746 )
2015
22
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. ( 25478422 )
2014
23
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
24
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. ( 24488845 )
2014
25
Ellis-van Creveld syndrome. ( 23843404 )
2013
26
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. ( 23924873 )
2013
27
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. ( 24168757 )
2013
28
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
29
Ellis-van Creveld syndrome: A rare clinical entity. ( 23798848 )
2013
30
Ellis-van Creveld syndrome: its history. ( 23754541 )
2013
31
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ( 24432110 )
2013
32
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
33
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. ( 23276573 )
2012
34
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 22286269 )
2012
35
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. ( 22344360 )
2012
36
Oral manifestations of Ellis-van Creveld syndrome. ( 22629068 )
2012
37
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. ( 21470865 )
2012
38
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. ( 23026208 )
2012
39
Recurrent knee valgus deformity in Ellis-van Creveld syndrome. ( 21478762 )
2012
40
Late survival in Ellis-van Creveld syndrome - a case report. ( 22929827 )
2012
41
Ellis-van Creveld Syndrome: A Case Report. ( 25206139 )
2012
42
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 21533779 )
2011
43
Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. ( 21070693 )
2011
44
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. ( 22313832 )
2011
45
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. ( 21815252 )
2011
46
Growth charts for children with Ellis-van Creveld syndrome. ( 20830486 )
2011
47
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. ( 22267994 )
2011
48
Ellis van Creveld syndrome--a report of two siblings. ( 22675019 )
2011
49
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. ( 22190900 )
2011
50
Ellis-van Creveld syndrome: report of two cases. ( 21210265 )
2011

Variations for Ellis-Van Creveld Syndrome

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

71
id 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
5 EVC p.Leu623Pro VAR_066448

ClinVar genetic disease variations for Ellis-Van Creveld Syndrome:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 EVC2 EVC2, 5-BP INS, NT198 insertion Pathogenic
2 EVC2 EVC2, 1-BP INS, 2056C insertion Pathogenic
3 EVC2 EVC2, 1-BP DEL, 3660C deletion Pathogenic
4 EVC2 NM_001166136.1(EVC2): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs137852924 GRCh37 Chromosome 4, 5642516: 5642516
5 EVC2 NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter) single nucleotide variant Pathogenic rs137852925 GRCh37 Chromosome 4, 5630317: 5630317
6 EVC2 NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg) single nucleotide variant Pathogenic rs137852926 GRCh37 Chromosome 4, 5683009: 5683009
7 EVC2 NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter) single nucleotide variant Pathogenic rs137852927 GRCh37 Chromosome 4, 5577974: 5577974
8 EVC2 NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp) single nucleotide variant Pathogenic rs137852928 GRCh37 Chromosome 4, 5586559: 5586559
9 EVC NM_153717.2(EVC): c.1886+5G> T single nucleotide variant Pathogenic/Likely pathogenic rs794726665 GRCh37 Chromosome 4, 5795449: 5795449
10 EVC NM_153717.2(EVC): c.2635C> T (p.Gln879Ter) single nucleotide variant Pathogenic rs121908424 GRCh37 Chromosome 4, 5810001: 5810001
11 EVC NM_153717.2(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 GRCh37 Chromosome 4, 5749953: 5749953
12 EVC NM_153717.2(EVC): c.735delT (p.Asp246Thrfs) deletion Pathogenic rs587776619 GRCh37 Chromosome 4, 5743475: 5743475
13 EVC NM_153717.2(EVC): c.919T> C (p.Ser307Pro) single nucleotide variant Pathogenic rs121908426 GRCh37 Chromosome 4, 5747048: 5747048
14 EVC NM_153717.2(EVC): c.2457delG (p.Met820Trpfs) deletion Pathogenic rs794726666 GRCh37 Chromosome 4, 5806464: 5806464
15 EVC2 EVC2, IVS5, A-G, -2 single nucleotide variant Pathogenic
16 EVC2 NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter) single nucleotide variant Pathogenic rs146538906 GRCh37 Chromosome 4, 5620258: 5620258
17 EVC2 NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter) single nucleotide variant Pathogenic rs751356206 GRCh37 Chromosome 4, 5624502: 5624502
18 EVC2 NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs) deletion Pathogenic rs750396637 GRCh37 Chromosome 4, 5570317: 5570323
19 EVC2 NM_147127.4(EVC2): c.3141G> A (p.Trp1047Ter) single nucleotide variant Pathogenic rs886037764 GRCh38 Chromosome 4, 5576371: 5576371
20 EVC2 NM_147127.4(EVC2): c.2746delA (p.Ser916Alafs) deletion Pathogenic rs886037763 GRCh38 Chromosome 4, 5615505: 5615505
21 EVC2 NM_147127.4(EVC2): c.850delA (p.Thr284Glnfs) deletion Pathogenic rs886044525 GRCh37 Chromosome 4, 5683007: 5683007
22 EVC NM_153717.2(EVC): c.802-1G> C single nucleotide variant Likely pathogenic rs150814290 GRCh38 Chromosome 4, 5745203: 5745203
23 EVC NM_153717.2(EVC): c.2176dupC (p.Leu726Profs) duplication Likely pathogenic rs1057517293 GRCh38 Chromosome 4, 5798664: 5798664

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.43 DYNC2H1 DYNC2LI1 IFT140 IFT80 TTC21B WDR19
2
Show member pathways
12.1 DYNC2H1 EFCAB7 EVC EVC2 IFT140 TTC21B
3 10.9 DYNC2H1 DYNC2LI1
4 10.78 DYNC2H1 DYNC2LI1 IFT140 IFT80 TTC21B WDR19

GO Terms for Ellis-Van Creveld Syndrome

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140 IFT80
2 cytoskeleton GO:0005856 9.9 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140
3 microtubule organizing center GO:0005815 9.85 CEP120 DYNC2LI1 IFT140 NEK1 WDR35
4 centrosome GO:0005813 9.85 CEP120 DYNC2LI1 IFT140 IFT80 NEK1 WDR35
5 ciliary basal body GO:0036064 9.73 DYNC2LI1 EVC IFT140 WDR35
6 axoneme GO:0005930 9.71 DYNC2H1 DYNC2LI1 IFT140 WDR35
7 motile cilium GO:0031514 9.67 DYNC2H1 DYNC2LI1 WDR19
8 dynein complex GO:0030286 9.56 DYNC2H1 DYNC2LI1
9 intraciliary transport particle A GO:0030991 9.56 IFT140 TTC21B WDR19 WDR35
10 photoreceptor connecting cilium GO:0032391 9.55 IFT140 WDR19
11 non-motile cilium GO:0097730 9.54 IFT140 WDR19
12 cytoplasmic dynein complex GO:0005868 9.51 DYNC2H1 DYNC2LI1
13 ciliary tip GO:0097542 9.5 DYNC2H1 DYNC2LI1 IFT140 IFT80 TTC21B WDR19
14 ciliary membrane GO:0060170 9.48 EVC EVC2
15 cilium GO:0005929 9.32 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 IFT140
16 cytoplasm GO:0005737 10.26 CEP120 DYNC2H1 DYNC2LI1 EVC EVC2 IFT140

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.73 DYNC2H1 DYNC2LI1 IFT140 NEK1 WDR19 WDR35
2 heart development GO:0007507 9.72 DYNC2H1 IFT140 MSX1
3 cilium assembly GO:0060271 9.7 DYNC2H1 DYNC2LI1 IFT140 IFT80 NEK1 WDR19
4 smoothened signaling pathway GO:0007224 9.62 EVC EVC2 TTC21B WDR19
5 determination of left/right symmetry GO:0007368 9.61 DYNC2H1 DYNC2LI1 IFT140
6 embryonic limb morphogenesis GO:0030326 9.58 DYNC2H1 MSX1 WDR19
7 non-motile cilium assembly GO:1905515 9.54 DYNC2H1 IFT140
8 protein localization to cilium GO:0061512 9.54 IFT140 TTC21B WDR35
9 regulation of cilium assembly GO:1902017 9.52 DYNC2LI1 IFT140
10 embryonic cranial skeleton morphogenesis GO:0048701 9.51 IFT140 WDR19
11 intraciliary transport involved in cilium assembly GO:0035735 9.5 DYNC2H1 DYNC2LI1 IFT140 IFT80 TTC21B WDR19
12 positive regulation of smoothened signaling pathway GO:0045880 9.49 DYNC2H1 EVC
13 regulation of smoothened signaling pathway GO:0008589 9.48 IFT140 TTC21B
14 embryonic camera-type eye development GO:0031076 9.46 IFT140 WDR19
15 intraciliary retrograde transport GO:0035721 9.02 DYNC2H1 IFT140 TTC21B WDR19 WDR35

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

id 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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16 ExPASy
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