MCID: ELL001
MIFTS: 57

Ellis-Van Creveld Syndrome 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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 52 11 48 24 25 70 12 50 39 13 68
Chondroectodermal Dysplasia 11 48 24 25 54 70 27
Mesoectodermal Dysplasia 48 24 70 68
Evc 24 70
 
Ellis-Van Creveld Dysplasia 25
Ellis Van Creveld Syndrome 54
Mesodermic Dysplasia 54

Characteristics:

Orphanet epidemiological data:

54
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

64
ellis-van creveld syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 225500
Disease Ontology11 DOID:12714
ICD1030 Q77.6
ICD9CM32 756.55
MeSH39 D004613
NCIt45 C84684
SNOMED-CT62 62501005
Orphanet54 ORPHA289
MESH via Orphanet40 D004613
UMLS via Orphanet69 C0013903
ICD10 via Orphanet31 Q77.6
MedGen37 C0013903

Summaries for Ellis-Van Creveld Syndrome

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NIH Rare Diseases:48 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 narrow chest, abnormality of the fingernails and atria septal defect. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways are Vasopressin-regulated water reabsorption and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include heart, bone and skin, and related mouse phenotypes are renal/urinary system and embryo.

UniProtKB/Swiss-Prot:70 Ellis-van Creveld syndrome: An autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.

Genetics Home Reference:25 Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), malformed fingernails and toenails, and dental abnormalities. More than half of affected individuals are born with a heart defect, which can cause serious or life-threatening health problems.

OMIM:52 Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs,... (225500) more...

Wikipedia:71 Ellis–van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but... more...

Related Diseases for Ellis-Van Creveld Syndrome

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Diseases related to Ellis-Van Creveld Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1weyers acrofacial dysostosis28.3DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
2evc-related ellis-van creveld syndrome12.3
3evc2-related ellis-van creveld syndrome12.3
4axial mesodermal dysplasia spectrum12.1
5chondroectodermal dysplasia with night blindness12.1
6short-rib thoracic dysplasia 7 with or without polydactyly11.4
7short-rib thoracic dysplasia 10 with or without polydactyly11.4
8short-rib thoracic dysplasia 4 with or without polydactyly11.4
9short-rib thoracic dysplasia 2 with or without polydactyly11.4
10short-rib thoracic dysplasia 5 with or without polydactyly11.4
11short-rib thoracic dysplasia 6 with or without polydactyly11.4
12short-rib thoracic dysplasia 8 with or without polydactyly11.4
13short-rib thoracic dysplasia 11 with or without polydactyly11.4
14short-rib thoracic dysplasia 3 with or without polydactyly11.4
15short-rib thoracic dysplasia 14 with polydactyly11.4
16short-rib thoracic dysplasia 9 with or without polydactyly11.4
17short-rib thoracic dysplasia 13 with or without polydactyly11.2
18short-rib thoracic dysplasia 1 with or without polydactyly11.2
19short-rib thoracic dysplasia 1211.2
20polydactyly10.6
21ectodermal dysplasia10.5
22primary lateral sclerosis, adult, 110.3EVC, EVC2
23dysostosis10.3
24dwarfism10.3
25chromosomal deletion syndrome10.3EVC, EVC2
26lymphedema, hereditary, id10.2DYNC2H1, NEK1
27dementia, familial british10.2EVC, EVC2
28craniosynostosis10.2
29hepatitis10.2
30autosomal recessive disease10.2
31synpolydactyly10.2
32renal-hepatic-pancreatic dysplasia10.2
33heart disease10.2
34nephronophthisis10.2
35intestinal pseudo-obstruction10.2
36pancreatitis10.2
37esotropia10.2
38senior-loken syndrome-110.1TTC21B, WDR19
39fetal alcohol syndrome10.0EVC, EVC2
40focal dermal hypoplasia9.9
41acrodermatitis chronica atrophicans9.8KIAA0586, TTC21B, WDR19
42hypotrichosis9.7
43strabismus9.7
44epidermolysis bullosa, nonspecific, autosomal recessive9.2DYNC2H1, IFT80, NEK1, WDR35, WDR60
45hemopericardium9.0DYNC2H1, IFT172, NEK1, WDR35, WDR60
46cranioectodermal dysplasia 18.3DYNC2H1, EVC, EVC2, IFT172, IFT80, NEK1
47taeniasis7.8DYNC2H1, IFT172, IFT80, KIAA0586, NEK1, TTC21B

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

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Symptoms by clinical synopsis from OMIM:

225500

Clinical features from OMIM:

225500

Human phenotypes related to Ellis-Van Creveld Syndrome:

 64 54 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow chest64 54 hallmark (90%) Very frequent (99-80%) HP:0000774
2 abnormality of the fingernails64 54 hallmark (90%) Very frequent (99-80%) HP:0001231
3 atria septal defect64 hallmark (90%) HP:0001631
4 abnormality of the heart valves64 54 hallmark (90%) Very frequent (99-80%) HP:0001654
5 complete atrioventricular canal defect64 hallmark (90%) HP:0001674
6 hypoplastic toenails64 54 hallmark (90%) Very frequent (99-80%) HP:0001800
7 genu valgum64 54 hallmark (90%) Very frequent (99-80%) HP:0002857
8 limb undergrowth64 hallmark (90%) HP:0009826
9 short distal phalanx of finger64 54 hallmark (90%) Very frequent (99-80%) HP:0009882
10 short thorax64 54 hallmark (90%) Very frequent (99-80%) HP:0010306
11 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
12 strabismus64 54 typical (50%) Frequent (79-30%) HP:0000486
13 microdontia64 54 typical (50%) Frequent (79-30%) HP:0000691
14 intrauterine growth retardation64 54 typical (50%) Frequent (79-30%) HP:0001511
15 ventricular septal defect64 54 typical (50%) Frequent (79-30%) HP:0001629
16 situs inversus totalis64 54 typical (50%) Frequent (79-30%) HP:0001696
17 aplasia/hypoplasia of the lungs64 54 typical (50%) Frequent (79-30%) HP:0006703
18 abnormality of female internal genitalia64 54 occasional (7.5%) Occasional (29-5%) HP:0000008
19 thin vermilion border64 54 occasional (7.5%) Occasional (29-5%) HP:0000233
20 delayed eruption of teeth64 54 occasional (7.5%) Occasional (29-5%) HP:0000684
21 emphysema64 54 occasional (7.5%) Occasional (29-5%) HP:0002097
22 acute leukemia64 54 occasional (7.5%) Occasional (29-5%) HP:0002488
23 delayed skeletal maturation64 54 occasional (7.5%) Occasional (29-5%) HP:0002750
24 cubitus valgus64 54 occasional (7.5%) Occasional (29-5%) HP:0002967
25 synostosis of carpal bones64 54 occasional (7.5%) Occasional (29-5%) HP:0005048
26 abnormality of bone marrow cell morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0005561
27 renal hypoplasia/aplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0008678
28 abnormal hair quantity64 54 occasional (7.5%) Occasional (29-5%) HP:0011362
29 cognitive impairment64 occasional (7.5%) HP:0100543
30 epispadias64 54 Frequent (79-30%) HP:0000039
31 hypospadias64 54 Frequent (79-30%) HP:0000047
32 cleft upper lip64 HP:0000204
33 hypodontia64 54 Frequent (79-30%) HP:0000668
34 natal tooth64 HP:0000695
35 pectus carinatum64 HP:0000768
36 short ribs64 HP:0000773
37 horizontal ribs64 HP:0000888
38 ectodermal dysplasia64 HP:0000968
39 postaxial hand polydactyly64 HP:0001162
40 capitate-hamate fusion64 54 Frequent (79-30%) HP:0001241
41 intellectual disability64 54 Occasional (29-5%) HP:0001249
42 dandy-walker malformation64 HP:0001305
43 talipes equinovarus64 HP:0001762
44 postaxial foot polydactyly64 HP:0001830
45 nail dysplasia64 54 Very frequent (99-80%) HP:0002164
46 hypoplastic iliac wing64 HP:0002866
47 short long bone64 HP:0003026
48 cone-shaped epiphyses of phalanges 2 to 564 HP:0006035
49 abnormality of the alveolar ridges64 HP:0006477
50 neonatal short-limb short stature64 54 Very frequent (99-80%) HP:0008921
51 acetabular spurs64 HP:0010454
52 common atrium64 HP:0011565
53 abnormality of the ureter54 Frequent (79-30%)
54 hydroureter54 Occasional (29-5%)
55 abnormality of the kidney54 Frequent (79-30%)
56 abnormality of the teeth54 Very frequent (99-80%)
57 abnormality of oral frenula54 Frequent (79-30%)
58 abnormality of the skeletal system54 Occasional (29-5%)
59 hand polydactyly54 Very frequent (99-80%)
60 failure to thrive54 Very frequent (99-80%)
61 abnormality of the hair54 Very frequent (99-80%)
62 abnormality of the nail54 Very frequent (99-80%)
63 defect in the atrial septum54 Frequent (79-30%)
64 dextrocardia54 Frequent (79-30%)
65 foot polydactyly54 Very frequent (99-80%)
66 malformation of the heart and great vessels54 Very frequent (99-80%)
67 abnormality of pelvic girdle bone morphology54 Frequent (79-30%)
68 micromelia54 Very frequent (99-80%)
69 atrioventricular canal defect54 Very frequent (99-80%)
70 conical incisor54 Frequent (79-30%)
71 abnormality of oral mucosa54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9DYNC2H1, IFT172, IFT80, NEK1, TTC21B
2MP:00053807.7DYNC2H1, DYNC2LI1, IFT172, KIAA0586, MSX1, TTC21B
3MP:00036317.4DYNC2H1, DYNC2LI1, IFT172, KIAA0586, MSX1, NEK1
4MP:00053847.4DYNC2H1, DYNC2LI1, EVC, EVC2, IFT172, IFT80
5MP:00053787.0DYNC2H1, DYNC2LI1, EVC, EVC2, IFT172, IFT80
6MP:00053827.0DYNC2H1, EVC, EVC2, IFT172, IFT80, KIAA0586
7MP:00053716.8DYNC2H1, DYNC2LI1, EVC, EVC2, IFT172, IFT80
8MP:00107686.7DYNC2H1, DYNC2LI1, EVC, EVC2, IFT172, IFT80
9MP:00053905.8DYNC2H1, EVC, EVC2, IFT172, IFT80, KIAA0586

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Studies in the Amish and MennonitesCompletedNCT00359580
2Natural History of Asphyxiating Thoracic Dystrophy (DTJ)CompletedNCT00948376
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754

Search NIH Clinical Center for Ellis-Van Creveld Syndrome


Cochrane evidence based reviews: ellis-van creveld syndrome

Genetic Tests for Ellis-Van Creveld Syndrome

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Genetic tests related to Ellis-Van Creveld Syndrome:

id Genetic test Affiliating Genes
1 Chondroectodermal Dysplasia27
2 Ellis-Van Creveld Syndrome24 EVC2

Anatomical Context for Ellis-Van Creveld Syndrome

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

36
Heart, Bone, Skin, Lung, Kidney, Bone marrow, Liver

Publications for Ellis-Van Creveld Syndrome

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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 196)
idTitleAuthorsYear
1
Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome. (26580685)
2016
2
Ellis-Van Creveld syndrome in siblings: A rare case report. (27829775)
2016
3
Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity. (27076836)
2016
4
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. (27453244)
2016
5
Prosthodontic Rehabilitation for a Patient with Ellis-Van Creveld Syndrome: A Case Report. (27039477)
2016
6
Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction. (26818569)
2016
7
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. (26621368)
2016
8
Oral and craniofacial manifestations of Ellis-van Creveld syndrome: Case series. (27325544)
2016
9
Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome. (26748586)
2016
10
Ellis-van Creveld syndrome presenting in the second decade. (26323981)
2015
11
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. (25939880)
2015
12
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. (26077781)
2015
13
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. (26625674)
2015
14
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. (26064711)
2015
15
Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum. (26106249)
2015
16
Ellis Van Creveld syndrome with mesenteroaxial volvulus--expanding the spectrum of endodermal involvement. (27522746)
2015
17
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
18
Ellis-van Creveld Syndrome with Sagittal Craniosynostosis. (26000085)
2015
19
A rare case report of Ellis Van Creveld syndrome in an Indian patient and literature review. (26258022)
2015
20
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. (25478422)
2014
21
An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. (24488845)
2014
22
Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome. (25174843)
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
Ellis-van Creveld syndrome. (23843404)
2013
26
Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome. (24432110)
2013
27
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. (23924873)
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
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
31
Ellis-van Creveld Syndrome: A Case Report. (25206139)
2012
32
Recurrent knee valgus deformity in Ellis-van Creveld syndrome. (21478762)
2012
33
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (22286269)
2012
34
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
35
Oral manifestations of Ellis-van Creveld syndrome. (22629068)
2012
36
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. (22344360)
2012
37
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (23276573)
2012
38
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. (21470865)
2012
39
Late survival in Ellis-van Creveld syndrome - a case report. (22929827)
2012
40
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
41
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
42
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. (21815252)
2011
43
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. (22190900)
2011
44
Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation. (22267994)
2011
45
Ellis-van Creveld syndrome in an Indian child: a case report. (22232726)
2011
46
Contemporary management of congenital malformations of the heart in infants with Ellis - van Creveld syndrome: a report of nine cases. (21070693)
2011
47
Ellis-van Creveld syndrome: report of two cases. (21210265)
2011
48
Ellis van Creveld syndrome--a report of two siblings. (22675019)
2011
49
Growth charts for children with Ellis-van Creveld syndrome. (20830486)
2011
50
Ellis-van Creveld syndrome with facial hemiatrophy. (20445298)
2010

Variations for Ellis-Van Creveld Syndrome

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

70
id Symbol AA change Variation ID SNP ID
1EVC2p.Ile283ArgVAR_017209rs137852926
2EVC2p.Arg950TrpVAR_017211rs137852928
3EVCp.Arg443GlnVAR_009946rs35953626
4EVCp.Ser206AsnVAR_066447
5EVCp.Leu623ProVAR_066448

Clinvar genetic disease variations for Ellis-Van Creveld Syndrome:

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1EVC2NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter)SNVPathogenicrs751356206GRCh37Chr 4, 5624502: 5624502
2EVC2NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs)deletionPathogenicrs750396637GRCh37Chr 4, 5570317: 5570323
3EVC2NM_147127.4(EVC2): c.2746delA (p.Ser916Alafs)deletionPathogenicrs886037763GRCh38Chr 4, 5615505: 5615505
4EVC2NM_147127.4(EVC2): c.3141G> A (p.Trp1047Ter)SNVPathogenicrs886037764GRCh38Chr 4, 5576371: 5576371
5EVC2NM_147127.4(EVC2): c.850delA (p.Thr284Glnfs)deletionPathogenicrs886044525GRCh37Chr 4, 5683007: 5683007
6EVC2EVC2, IVS5, A-G, -2SNVPathogenicChr na, -1: -1
7EVC2NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter)SNVPathogenicrs146538906GRCh37Chr 4, 5620258: 5620258
8EVC2EVC2, 1-BP DEL, 3660CdeletionPathogenicChr na, -1: -1
9EVC2EVC2, 5-BP INS, NT198insertionPathogenicChr na, -1: -1
10EVC2EVC2, 1-BP INS, 2056CinsertionPathogenicChr na, -1: -1
11EVC2NM_001166136.1(EVC2): c.955C> T (p.Arg319Ter)SNVPathogenicrs137852924GRCh37Chr 4, 5642516: 5642516
12EVC2NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter)SNVPathogenicrs137852925GRCh37Chr 4, 5630317: 5630317
13EVC2NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg)SNVPathogenicrs137852926GRCh37Chr 4, 5683009: 5683009
14EVC2NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter)SNVPathogenicrs137852927GRCh37Chr 4, 5577974: 5577974
15EVC2NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp)SNVPathogenicrs137852928GRCh37Chr 4, 5586559: 5586559
16EVCNM_153717.2: c.802-1G> CSNVLikely pathogenicChr na, -1: -1
17EVCNM_153717.2: c.2176dupCduplicationLikely pathogenicChr na, -1: -1
18EVCNM_153717.2(EVC): c.1886+5G> TSNVPathogenicrs794726665GRCh37Chr 4, 5795449: 5795449
19EVCNM_153717.2(EVC): c.2635C> T (p.Gln879Ter)SNVPathogenicrs121908424GRCh37Chr 4, 5810001: 5810001
20EVCNM_153717.2(EVC): c.1018C> T (p.Arg340Ter)SNVPathogenicrs121908425GRCh37Chr 4, 5749953: 5749953
21EVCNM_153717.2(EVC): c.735delT (p.Asp246Thrfs)deletionPathogenicrs587776619GRCh37Chr 4, 5743475: 5743475
22EVCNM_153717.2(EVC): c.1328G> A (p.Arg443Gln)SNVPathogenicrs35953626GRCh37Chr 4, 5755524: 5755524
23EVCNM_153717.2(EVC): c.919T> C (p.Ser307Pro)SNVPathogenicrs121908426GRCh37Chr 4, 5747048: 5747048
24EVCNM_153717.2(EVC): c.2457delG (p.Met820Trpfs)deletionPathogenicrs794726666GRCh37Chr 4, 5806464: 5806464

Expression for genes affiliated with Ellis-Van Creveld Syndrome

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

Pathways for genes affiliated with Ellis-Van Creveld Syndrome

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GO Terms for genes affiliated with Ellis-Van Creveld Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:006017010.6EVC, EVC2
2intraciliary transport particle AGO:00309919.7TTC21B, WDR19, WDR35
3axonemeGO:00059309.5DYNC2H1, DYNC2LI1, IFT172, WDR35
4centrosomeGO:00058139.4IFT80, KIAA0586, NEK1, WDR35
5intraciliary transport particle BGO:00309929.3IFT172, IFT80
6ciliary basal bodyGO:00360648.9DYNC2LI1, EVC, IFT172, KIAA0586, WDR35
7ciliary tipGO:00975427.7DYNC2H1, DYNC2LI1, IFT172, IFT80, TTC21B, WDR19
8ciliumGO:00059297.6EVC, EVC2, IFT172, IFT80, TTC21B, WDR19

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1protein localization to ciliumGO:006151210.4TTC21B, WDR35
2bone morphogenesisGO:006034910.3IFT80, MSX1
3dorsal/ventral pattern formationGO:000995310.0DYNC2H1, IFT172
4embryonic limb morphogenesisGO:00303269.9DYNC2H1, MSX1, WDR19
5regulation of smoothened signaling pathwayGO:00085899.8IFT172, TTC21B
6determination of left/right symmetryGO:00073689.7DYNC2H1, DYNC2LI1, IFT172
7intraciliary retrograde transportGO:00357219.7DYNC2H1, TTC21B, WDR19, WDR35
8heart developmentGO:00075079.4DYNC2H1, IFT172, MSX1
9spinal cord motor neuron differentiationGO:00215229.3DYNC2H1, IFT172
10positive regulation of smoothened signaling pathwayGO:00458809.3DYNC2H1, EVC, IFT172, IFT80
11smoothened signaling pathwayGO:00072247.8EVC, EVC2, IFT172, IFT80, KIAA0586, TTC21B
12cilium assemblyGO:00602717.6DYNC2H1, DYNC2LI1, IFT172, IFT80, KIAA0586, NEK1

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

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:00037749.9DYNC2H1, DYNC2LI1

Sources for Ellis-Van Creveld Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet