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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 51 11 47 24 25 69 12 49 38 13 67
Chondroectodermal Dysplasia 11 47 24 25 53 69 26
Mesoectodermal Dysplasia 47 24 69 67
Evc 24 69
 
Ellis-Van Creveld Dysplasia 25
Ellis Van Creveld Syndrome 53
Mesodermic Dysplasia 53

Characteristics:

Orphanet epidemiological data:

53
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

63
ellis-van creveld syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 225500
Disease Ontology11 DOID:12714
ICD1029 Q77.6
ICD9CM31 756.55
MeSH38 D004613
NCIt44 C84684
SNOMED-CT61 62501005
Orphanet53 ORPHA289
MESH via Orphanet39 D004613
UMLS via Orphanet68 C0013903
ICD10 via Orphanet30 Q77.6
MedGen36 C0013903

Summaries for Ellis-Van Creveld Syndrome

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NIH Rare Diseases:47 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.

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

UniProtKB/Swiss-Prot:69 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:70 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 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:

 63 53 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow chest63 53 hallmark (90%) Very frequent (99-80%) HP:0000774
2 abnormality of the fingernails63 53 hallmark (90%) Very frequent (99-80%) HP:0001231
3 atria septal defect63 hallmark (90%) HP:0001631
4 abnormality of the heart valves63 53 hallmark (90%) Very frequent (99-80%) HP:0001654
5 complete atrioventricular canal defect63 hallmark (90%) HP:0001674
6 hypoplastic toenails63 53 hallmark (90%) Very frequent (99-80%) HP:0001800
7 genu valgum63 53 hallmark (90%) Very frequent (99-80%) HP:0002857
8 limb undergrowth63 hallmark (90%) HP:0009826
9 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
10 short thorax63 53 hallmark (90%) Very frequent (99-80%) HP:0010306
11 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
12 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
13 microdontia63 53 typical (50%) Frequent (79-30%) HP:0000691
14 intrauterine growth retardation63 53 typical (50%) Frequent (79-30%) HP:0001511
15 ventricular septal defect63 53 typical (50%) Frequent (79-30%) HP:0001629
16 situs inversus totalis63 53 typical (50%) Frequent (79-30%) HP:0001696
17 aplasia/hypoplasia of the lungs63 53 typical (50%) Frequent (79-30%) HP:0006703
18 abnormality of female internal genitalia63 53 occasional (7.5%) Occasional (29-5%) HP:0000008
19 thin vermilion border63 53 occasional (7.5%) Occasional (29-5%) HP:0000233
20 delayed eruption of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0000684
21 emphysema63 53 occasional (7.5%) Occasional (29-5%) HP:0002097
22 acute leukemia63 53 occasional (7.5%) Occasional (29-5%) HP:0002488
23 delayed skeletal maturation63 53 occasional (7.5%) Occasional (29-5%) HP:0002750
24 cubitus valgus63 53 occasional (7.5%) Occasional (29-5%) HP:0002967
25 synostosis of carpal bones63 53 occasional (7.5%) Occasional (29-5%) HP:0005048
26 abnormality of bone marrow cell morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0005561
27 renal hypoplasia/aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0008678
28 abnormal hair quantity63 53 occasional (7.5%) Occasional (29-5%) HP:0011362
29 cognitive impairment63 occasional (7.5%) HP:0100543
30 epispadias63 53 Frequent (79-30%) HP:0000039
31 hypospadias63 53 Frequent (79-30%) HP:0000047
32 cleft upper lip63 HP:0000204
33 hypodontia63 53 Frequent (79-30%) HP:0000668
34 natal tooth63 HP:0000695
35 pectus carinatum63 HP:0000768
36 short ribs63 HP:0000773
37 horizontal ribs63 HP:0000888
38 ectodermal dysplasia63 HP:0000968
39 postaxial hand polydactyly63 HP:0001162
40 capitate-hamate fusion63 53 Frequent (79-30%) HP:0001241
41 intellectual disability63 53 Occasional (29-5%) HP:0001249
42 dandy-walker malformation63 HP:0001305
43 talipes equinovarus63 HP:0001762
44 postaxial foot polydactyly63 HP:0001830
45 nail dysplasia63 53 Very frequent (99-80%) HP:0002164
46 hypoplastic iliac wing63 HP:0002866
47 short long bone63 HP:0003026
48 cone-shaped epiphyses of phalanges 2 to 563 HP:0006035
49 abnormality of the alveolar ridges63 HP:0006477
50 neonatal short-limb short stature63 53 Very frequent (99-80%) HP:0008921
51 acetabular spurs63 HP:0010454
52 common atrium63 HP:0011565
53 abnormality of the ureter53 Frequent (79-30%)
54 hydroureter53 Occasional (29-5%)
55 abnormality of the kidney53 Frequent (79-30%)
56 abnormality of the teeth53 Very frequent (99-80%)
57 abnormality of oral frenula53 Frequent (79-30%)
58 abnormality of the skeletal system53 Occasional (29-5%)
59 hand polydactyly53 Very frequent (99-80%)
60 failure to thrive53 Very frequent (99-80%)
61 abnormality of the hair53 Very frequent (99-80%)
62 abnormality of the nail53 Very frequent (99-80%)
63 defect in the atrial septum53 Frequent (79-30%)
64 dextrocardia53 Frequent (79-30%)
65 foot polydactyly53 Very frequent (99-80%)
66 malformation of the heart and great vessels53 Very frequent (99-80%)
67 abnormality of pelvic girdle bone morphology53 Frequent (79-30%)
68 micromelia53 Very frequent (99-80%)
69 atrioventricular canal defect53 Very frequent (99-80%)
70 conical incisor53 Frequent (79-30%)
71 abnormality of oral mucosa53 Very frequent (99-80%)

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 Dysplasia26
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:

35
Heart, Bone, Skin, Lung, Kidney, Bone marrow, Liver

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

40
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

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 presenting in the second decade. (26323981)
2015
3
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. (25939880)
2015
4
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. (26077781)
2015
5
A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. (26625674)
2015
6
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. (25478422)
2014
7
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. (24168757)
2013
8
Ellis-van Creveld syndrome: its history. (23754541)
2013
9
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
10
Ellis-van Creveld Syndrome: A Case Report. (25206139)
2012
11
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
12
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
13
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. (21815252)
2011
14
Anaesthetic management of patient with Ellis Van Creveld syndrome. (18822649)
2008
15
A rare variant of Ellis van Creveld syndrome. (17609834)
2007
16
Ellis van Creveld syndrome associated with bilateral tibial exostoses. (16719281)
2006
17
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (15054850)
2004
18
Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives. (15056248)
2004
19
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (12571802)
2003
20
Ellis-van Creveld syndrome associated with thymic hypoplasia. (12538281)
2002
21
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. (12468274)
2002
22
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. (11244665)
2001
23
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. (11389165)
2001
24
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
25
Prenatal sonographic diagnosis of ellis-van creveld syndrome. (10602104)
2000
26
Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment. (10426602)
1999
27
Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome. (10457851)
1999
28
Nephronophthisis associated with Ellis-van Creveld syndrome. (9502561)
1998
29
Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies. (9643193)
1998
30
Prenatal ultrasonic diagnosis of a case of Ellis-van Creveld syndrome with a single atrium. (9388288)
1997
31
Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. (8921652)
1996
32
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. (8882877)
1996
33
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? (7628126)
1995
34
Ellis-van Creveld syndrome (chondroectodermal dysplasia). (7971530)
1994
35
Oral abnormalities in the Ellis-van Creveld syndrome: case report. (3272958)
1988
36
The radiological diagnosis of the Ellis-van Creveld syndrome in the newborn. Report of one case. (3759901)
1986
37
Ellis Van-Creveld syndrome. (7169455)
1982
38
Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. (7218275)
1980
39
Ellis-van Creveld syndrome--oral aspects. (282410)
1978
40
Ellis van Creveld syndrome (a case report). (669782)
1978
41
Orthopaedic aspects of the Ellis-van Creveld syndrome. (1201360)
1975
42
Orthopaeidc aspects of the Ellis-van CREVELD SYNDROME. (1164579)
1975
43
Ellis-van Creveld syndrome. (5375501)
1969
44
Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome. (6059430)
1967
45
Chondro-ectodermal dysplasia. Ellis-Van Creveld syndrome: a case report. (5583210)
1967
46
Ellis-van Creveld syndrome. (5944783)
1966
47
CHONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD SYNDROME) WITH BRONCHIAL MALFORMATION AND NEONATAL TENSION LOBAR EMPHYSEMA. (14044161)
1963
48
Congenital heart disease in an adult with the Ellis-van Creveld syndrome. (13994651)
1962
49
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases in sibship and review of literature. (13636702)
1959
50
Ellis-Van Creveld syndrome; report of two cases in siblings. (13508233)
1958

Variations for Ellis-Van Creveld Syndrome

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

69
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
1intraciliary transport particle AGO:003099110.0TTC21B, WDR19, WDR35
2ciliary membraneGO:006017010.0EVC, EVC2
3intraciliary transport particle BGO:00309929.8IFT172, IFT80
4centrosomeGO:00058139.0IFT80, KIAA0586, NEK1, WDR35
5axonemeGO:00059308.8DYNC2H1, DYNC2LI1, IFT172, WDR35
6ciliary basal bodyGO:00360648.6DYNC2LI1, EVC, IFT172, KIAA0586, WDR35
7ciliary tipGO:00975427.6DYNC2H1, DYNC2LI1, IFT172, IFT80, TTC21B, WDR19
8ciliumGO:00059297.1EVC, 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:006151210.2TTC21B, WDR35
2bone morphogenesisGO:00603499.9IFT80, MSX1
3spinal cord motor neuron differentiationGO:00215229.8DYNC2H1, IFT172
4regulation of smoothened signaling pathwayGO:00085899.7IFT172, TTC21B
5dorsal/ventral pattern formationGO:00099539.7DYNC2H1, IFT172
6intraciliary retrograde transportGO:00357219.6DYNC2H1, TTC21B, WDR19, WDR35
7embryonic limb morphogenesisGO:00303269.5DYNC2H1, MSX1, WDR19
8positive regulation of smoothened signaling pathwayGO:00458809.1DYNC2H1, EVC, IFT172, IFT80
9determination of left/right symmetryGO:00073689.1DYNC2H1, DYNC2LI1, IFT172
10heart developmentGO:00075078.5DYNC2H1, IFT172, MSX1
11smoothened signaling pathwayGO:00072247.7EVC, EVC2, IFT172, IFT80, KIAA0586, TTC21B
12cilium assemblyGO:00602716.9DYNC2H1, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet