EVC
MCID: ELL001
MIFTS: 58

Ellis-Van Creveld Syndrome (EVC) malady

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

Aliases & Classifications for Ellis-Van Creveld Syndrome

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 54 12 50 24 25 66 13 52 42 14 69
Chondroectodermal Dysplasia 12 50 24 25 56 66 29
Mesoectodermal Dysplasia 50 24 66 69
Ellis Van Creveld Syndrome 56 29
Evc 24 66
Ellis-Van Creveld Dysplasia 25
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;

HPO:

32
ellis-van creveld syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 225500
Disease Ontology 12 DOID:12714
ICD10 33 Q77.6
ICD9CM 35 756.55
MeSH 42 D004613
NCIt 47 C84684
SNOMED-CT 64 62501005
Orphanet 56 ORPHA289
MESH via Orphanet 43 D004613
UMLS via Orphanet 70 C0013903
ICD10 via Orphanet 34 Q77.6
MedGen 40 C0013903
UMLS 69 C0013903

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 evc-related ellis-van creveld syndrome and evc2-related ellis-van creveld syndrome, and has symptoms including genu valgum, intellectual disability and failure to thrive. 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,... (225500) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Ellis–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 55)
id Related Disease Score Top Affiliating Genes
1 evc-related ellis-van creveld syndrome 12.3
2 evc2-related ellis-van creveld syndrome 12.3
3 axial mesodermal dysplasia spectrum 12.1
4 chondroectodermal dysplasia with night blindness 12.1
5 short-rib thoracic dysplasia 8 with or without polydactyly 11.3
6 short-rib thoracic dysplasia 11 with or without polydactyly 11.3
7 short-rib thoracic dysplasia 3 with or without polydactyly 11.3
8 short-rib thoracic dysplasia 14 with polydactyly 11.3
9 short-rib thoracic dysplasia 9 with or without polydactyly 11.3
10 short-rib thoracic dysplasia 7 with or without polydactyly 11.3
11 short-rib thoracic dysplasia 10 with or without polydactyly 11.3
12 short-rib thoracic dysplasia 4 with or without polydactyly 11.3
13 short-rib thoracic dysplasia 2 with or without polydactyly 11.3
14 weyers acrofacial dysostosis 11.3
15 short-rib thoracic dysplasia 5 with or without polydactyly 11.3
16 short-rib thoracic dysplasia 6 with or without polydactyly 11.3
17 short-rib thoracic dysplasia 13 with or without polydactyly 11.2
18 short-rib thoracic dysplasia 15 with polydactyly 11.2
19 short-rib thoracic dysplasia 16 with or without polydactyly 11.2
20 short-rib thoracic dysplasia 1 with or without polydactyly 11.2
21 short-rib thoracic dysplasia 12 11.2
22 polydactyly 10.5
23 ectodermal dysplasia 10.4
24 dysostosis 10.3
25 dwarfism 10.3
26 hypouricemia, renal, 2 10.2 EVC EVC2
27 partial fetal alcohol syndrome 10.2 EVC EVC2
28 heart disease 10.1
29 nephrotic syndrome 10.1
30 nephronophthisis 10.1
31 facial hemiatrophy 10.1
32 intestinal pseudo-obstruction 10.1
33 pancreatitis 10.1
34 craniosynostosis 10.1
35 situs inversus 10.1
36 hepatitis 10.1
37 esotropia 10.1
38 asphyxiating thoracic dystrophy 10.1
39 autosomal recessive disease 10.1
40 synpolydactyly 10.1
41 renal-hepatic-pancreatic dysplasia 10.1
42 chromosome 10q23 deletion syndrome 10.1 EVC EVC2
43 night blindness, congenital stationary , 1c, autosomal recessive 10.0 DYNC2LI1 EVC IFT172
44 spinocerebellar ataxia 30 9.9 DYNC2H1 IFT80 NEK1
45 focal dermal hypoplasia 9.9
46 lrrk2-related parkinson disease 9.8 KIAA0586 TTC21B
47 horner's syndrome 9.8 DYNC2H1 DYNC2LI1 EVC NEK1 WDR35
48 hypotrichosis 9.7
49 strabismus 9.7
50 bacillary angiomatosis 9.6 KIAA0586 TTC21B WDR19 WDR35

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 by clinical synopsis from OMIM:

225500

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 genu valgum 56 32 Very frequent (99-80%) HP:0002857
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
4 delayed skeletal maturation 56 32 Occasional (29-5%) HP:0002750
5 emphysema 56 32 Occasional (29-5%) HP:0002097
6 abnormality of the heart valves 56 32 Very frequent (99-80%) HP:0001654
7 strabismus 56 32 Frequent (79-30%) HP:0000486
8 delayed eruption of teeth 56 32 Occasional (29-5%) HP:0000684
9 narrow chest 56 32 Very frequent (99-80%) HP:0000774
10 micromelia 56 32 Very frequent (99-80%) HP:0002983
11 short thorax 56 32 Very frequent (99-80%) HP:0010306
12 microdontia 56 32 Frequent (79-30%) HP:0000691
13 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
14 cubitus valgus 56 32 Occasional (29-5%) HP:0002967
15 abnormality of the fingernails 56 32 Very frequent (99-80%) HP:0001231
16 hypoplastic toenails 56 32 Very frequent (99-80%) HP:0001800
17 abnormal hair quantity 56 32 Occasional (29-5%) HP:0011362
18 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
19 hypospadias 56 32 Frequent (79-30%) HP:0000047
20 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
21 hand polydactyly 56 32 Very frequent (99-80%) HP:0001161
22 ventricular septal defect 56 32 Frequent (79-30%) HP:0001629
23 foot polydactyly 56 32 Very frequent (99-80%) HP:0001829
24 acute leukemia 56 32 Occasional (29-5%) HP:0002488
25 hypodontia 56 32 Frequent (79-30%) HP:0000668
26 abnormality of pelvic girdle bone morphology 56 32 Frequent (79-30%) HP:0002644
27 neonatal short-limb short stature 56 32 Very frequent (99-80%) HP:0008921
28 thin vermilion border 56 32 Occasional (29-5%) HP:0000233
29 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
30 synostosis of carpal bones 56 32 Occasional (29-5%) HP:0005048
31 aplasia/hypoplasia of the lungs 56 32 Frequent (79-30%) HP:0006703
32 hydroureter 56 32 Occasional (29-5%) HP:0000072
33 situs inversus totalis 56 32 Frequent (79-30%) HP:0001696
34 abnormality of female internal genitalia 56 32 Occasional (29-5%) HP:0000008
35 epispadias 56 32 Frequent (79-30%) HP:0000039
36 abnormality of oral frenula 56 32 Frequent (79-30%) HP:0000190
37 capitate-hamate fusion 56 32 Frequent (79-30%) HP:0001241
38 nail dysplasia 56 32 Very frequent (99-80%) HP:0002164
39 abnormality of bone marrow cell morphology 56 32 Occasional (29-5%) HP:0005561
40 atrioventricular canal defect 56 32 Very frequent (99-80%) HP:0006695
41 conical incisor 56 32 Frequent (79-30%) HP:0011065
42 abnormality of oral mucosa 56 32 Very frequent (99-80%) HP:0011830
43 abnormality of the teeth 56 Very frequent (99-80%)
44 pectus carinatum 32 HP:0000768
45 abnormality of the nail 56 Very frequent (99-80%)
46 malformation of the heart and great vessels 56 Very frequent (99-80%)
47 short long bone 32 HP:0003026
48 atria septal defect 56 Frequent (79-30%)
49 abnormality of the skeletal system 56 Occasional (29-5%)
50 hypoplastic iliac wing 32 HP:0002866

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 IFT172 IFT80 KIAA0586 TTC21B WDR19 WDR35
2 craniofacial MP:0005382 10.1 KIAA0586 MSX1 NEK1 TTC21B WDR19 DYNC2H1
3 growth/size/body region MP:0005378 10.02 DYNC2H1 DYNC2LI1 EVC EVC2 IFT172 IFT80
4 limbs/digits/tail MP:0005371 10 DYNC2H1 DYNC2LI1 EVC EVC2 IFT172 IFT80
5 embryo MP:0005380 9.97 DYNC2H1 DYNC2LI1 IFT172 KIAA0586 MSX1 TTC21B
6 mortality/aging MP:0010768 9.9 DYNC2H1 DYNC2LI1 EVC EVC2 IFT172 IFT80
7 nervous system MP:0003631 9.56 DYNC2LI1 IFT172 KIAA0586 MSX1 NEK1 TTC21B
8 skeleton MP:0005390 9.36 DYNC2H1 EVC EVC2 IFT172 IFT80 KIAA0586

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
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, Skin, Kidney, Bone Marrow, Liver

Publications for Ellis-Van Creveld Syndrome

Articles related to Ellis-Van Creveld Syndrome:

(show top 50) (show all 196)
id Title Authors Year
1
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. ( 27039477 )
2016
2
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. ( 26621368 )
2016
3
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. ( 26580685 )
2016
4
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. ( 26748586 )
2016
5
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. ( 27076836 )
2016
6
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. ( 27453244 )
2016
7
Ellis-Van Creveld syndrome in siblings: A rare case report. ( 27829775 )
2016
8
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. ( 27325544 )
2016
9
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. ( 26818569 )
2016
10
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. ( 26000085 )
2015
11
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. ( 26106249 )
2015
12
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. ( 26064711 )
2015
13
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. ( 26077781 )
2015
14
Ellis-van Creveld syndrome presenting in the second decade. ( 26323981 )
2015
15
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. ( 26625674 )
2015
16
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. ( 27522746 )
2015
17
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. ( 26258022 )
2015
18
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. ( 25939880 )
2015
19
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
20
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. ( 24488845 )
2014
21
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. ( 25174843 )
2014
22
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. ( 25478422 )
2014
23
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. ( 24168757 )
2013
24
Ellis-van Creveld syndrome: its history. ( 23754541 )
2013
25
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. ( 23220543 )
2013
26
Ellis-van Creveld syndrome: A rare clinical entity. ( 23798848 )
2013
27
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. ( 23924873 )
2013
28
Ellis-van Creveld syndrome. ( 23843404 )
2013
29
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. ( 24432110 )
2013
30
Recurrent knee valgus deformity in Ellis-van Creveld syndrome. ( 21478762 )
2012
31
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. ( 23276573 )
2012
32
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. ( 21470865 )
2012
33
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
34
Oral manifestations of Ellis-van Creveld syndrome. ( 22629068 )
2012
35
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. ( 23026208 )
2012
36
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. ( 22344360 )
2012
37
Ellis-van Creveld Syndrome: A Case Report. ( 25206139 )
2012
38
Late survival in Ellis-van Creveld syndrome - a case report. ( 22929827 )
2012
39
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 22286269 )
2012
40
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. ( 22313832 )
2011
41
Ellis-van Creveld syndrome in an Indian child: a case report. ( 22232726 )
2011
42
Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. ( 21070693 )
2011
43
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. ( 21815252 )
2011
44
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. ( 22267994 )
2011
45
Growth charts for children with Ellis-van Creveld syndrome. ( 20830486 )
2011
46
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. ( 22190900 )
2011
47
Ellis van Creveld syndrome--a report of two siblings. ( 22675019 )
2011
48
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. ( 21533779 )
2011
49
Ellis-van Creveld syndrome: report of two cases. ( 21210265 )
2011
50
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. ( 20184732 )
2010

Variations for Ellis-Van Creveld Syndrome

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

66
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, 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_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

GO Terms for Ellis-Van Creveld Syndrome

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.96 DYNC2H1 DYNC2LI1 EVC EVC2 IFT80 KIAA0586
2 cell projection GO:0042995 9.85 DYNC2H1 DYNC2LI1 EVC EVC2 IFT172 IFT80
3 centrosome GO:0005813 9.83 DYNC2LI1 IFT80 KIAA0586 NEK1 WDR35
4 microtubule organizing center GO:0005815 9.78 DYNC2LI1 KIAA0586 NEK1 WDR35
5 ciliary basal body GO:0036064 9.72 DYNC2LI1 EVC IFT172 KIAA0586 WDR35
6 axoneme GO:0005930 9.71 DYNC2H1 DYNC2LI1 IFT172 WDR35
7 motile cilium GO:0031514 9.63 DYNC2H1 DYNC2LI1 WDR19
8 ciliary membrane GO:0060170 9.54 EVC EVC2
9 intraciliary transport particle A GO:0030991 9.54 TTC21B WDR19 WDR35
10 dynein complex GO:0030286 9.52 DYNC2H1 DYNC2LI1
11 cytoplasmic dynein complex GO:0005868 9.51 DYNC2H1 DYNC2LI1
12 ciliary tip GO:0097542 9.5 DYNC2H1 DYNC2LI1 IFT172 IFT80 TTC21B WDR19
13 intraciliary transport particle B GO:0030992 9.49 IFT172 IFT80
14 cilium GO:0005929 9.32 DYNC2H1 DYNC2LI1 EFCAB7 EVC EVC2 IFT172

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 9.8 DYNC2H1 DYNC2LI1 KIAA0586 NEK1 WDR19 WDR35
2 cilium assembly GO:0060271 9.76 DYNC2H1 DYNC2LI1 IFT172 IFT80 KIAA0586 NEK1
3 heart development GO:0007507 9.72 DYNC2H1 IFT172 MSX1
4 positive regulation of smoothened signaling pathway GO:0045880 9.67 DYNC2H1 EVC IFT172 IFT80
5 determination of left/right symmetry GO:0007368 9.63 DYNC2H1 DYNC2LI1 IFT172
6 embryonic limb morphogenesis GO:0030326 9.61 DYNC2H1 MSX1 WDR19
7 non-motile cilium assembly GO:1905515 9.58 DYNC2H1 IFT172 IFT80
8 intraciliary retrograde transport GO:0035721 9.56 DYNC2H1 TTC21B WDR19 WDR35
9 dorsal/ventral pattern formation GO:0009953 9.54 DYNC2H1 IFT172
10 bone morphogenesis GO:0060349 9.52 IFT80 MSX1
11 regulation of smoothened signaling pathway GO:0008589 9.51 IFT172 TTC21B
12 smoothened signaling pathway GO:0007224 9.5 EVC EVC2 IFT172 IFT80 KIAA0586 TTC21B
13 spinal cord motor neuron differentiation GO:0021522 9.49 DYNC2H1 IFT172
14 protein localization to cilium GO:0061512 9.48 TTC21B WDR35
15 intraciliary transport involved in cilium assembly GO:0035735 9.17 DYNC2H1 DYNC2LI1 IFT172 IFT80 TTC21B WDR19

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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34 ICD10 via Orphanet
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