MCID: ELL001
MIFTS: 56

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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 50 11 46 23 24 13 68 12 48 37 66
Chondroectodermal Dysplasia 11 46 23 24 52 68 25
Mesoectodermal Dysplasia 46 23 68
Evc 23 68
 
Ellis-Van Creveld Dysplasia 24
Ellis Van Creveld Syndrome 52
Mesodermic Dysplasia 52

Characteristics:

Orphanet epidemiological data:

52
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age

HPO:

62
ellis-van creveld syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 225500
Disease Ontology11 DOID:12714
ICD1028 Q77.6
ICD9CM30 756.55
MeSH37 D004613
NCIt43 C84684
SNOMED-CT60 62501005
Orphanet52 ORPHA289
ICD10 via Orphanet29 Q77.6
MESH via Orphanet38 D004613
UMLS via Orphanet67 C0013903
MedGen35 C0013903

Summaries for Ellis-Van Creveld Syndrome

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NIH Rare Diseases:46 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 Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include heart, bone and skin, and related mouse phenotypes are embryo and cellular.

Genetics Home Reference:24 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:50 Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs,... (225500) more...

UniProtKB/Swiss-Prot:68 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:69 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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1weyers acrofacial dysostosis25.1DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
2evc-related ellis-van creveld syndrome12.4
3evc2-related ellis-van creveld syndrome12.4
4axial mesodermal dysplasia spectrum12.2
5chondroectodermal dysplasia with night blindness12.2
6polydactyly10.7
7ectodermal dysplasia10.6
8short-rib thoracic dysplasia 7 with or without polydactyly10.5
9short-rib thoracic dysplasia 10 with or without polydactyly10.5
10short-rib thoracic dysplasia 4 with or without polydactyly10.5
11short-rib thoracic dysplasia 2 with or without polydactyly10.5
12short-rib thoracic dysplasia 5 with or without polydactyly10.5
13short-rib thoracic dysplasia 6 with or without polydactyly10.5
14short-rib thoracic dysplasia 8 with or without polydactyly10.5
15short-rib thoracic dysplasia 11 with or without polydactyly10.5
16short-rib thoracic dysplasia 3 with or without polydactyly10.5
17short-rib thoracic dysplasia 14 with polydactyly10.5
18short-rib thoracic dysplasia 9 with or without polydactyly10.5
19dysostosis10.4
20dwarfism10.4
21primary lateral sclerosis, adult, 110.4EVC, EVC2
22short-rib thoracic dysplasia 13 with or without polydactyly10.3
23short-rib thoracic dysplasia 1 with or without polydactyly10.3
24short-rib thoracic dysplasia 1210.3
25chromosomal deletion syndrome10.3EVC, EVC2
26craniosynostosis10.3
27hepatitis10.3
28asphyxiating thoracic dystrophy10.3
29autosomal recessive disease10.3
30synpolydactyly10.3
31renal-hepatic-pancreatic dysplasia10.3
32heart disease10.3
33nephrotic syndrome10.3
34nephronophthisis10.3
35congenital heart disease10.3
36facial hemiatrophy10.3
37intestinal pseudo-obstruction10.3
38pancreatitis10.3
39situs inversus10.3
40esotropia10.3
41dementia, familial british10.3EVC, EVC2
42fetal alcohol syndrome10.2EVC, EVC2
43lymphedema, hereditary, id10.1DYNC2H1, NEK1
44acrodermatitis chronica atrophicans10.0TTC21B, WDR19
45focal dermal hypoplasia10.0
46hypotrichosis9.8
47strabismus9.8
48senior-loken syndrome-19.7TTC21B, WDR19
49hemopericardium8.4DYNC2H1, NEK1, WDR34, WDR35, WDR60
50cranioectodermal dysplasia 18.1DYNC2H1, EVC, EVC2, IFT80, 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

Symptoms:

 52 (show all 51)
  • abnormality of female internal genitalia
  • cryptorchidism
  • epispadias
  • hypospadias
  • abnormality of the ureter
  • hydroureter
  • abnormality of the kidney
  • abnormality of the teeth
  • abnormality of oral frenula
  • thin vermilion border
  • strabismus
  • hypodontia
  • delayed eruption of teeth
  • microdontia
  • narrow chest
  • abnormality of the skeletal system
  • hand polydactyly
  • abnormality of the fingernails
  • capitate-hamate fusion
  • intellectual disability
  • failure to thrive
  • intrauterine growth retardation
  • abnormality of the hair
  • abnormality of the nail
  • ventricular septal defect
  • defect in the atrial septum
  • dextrocardia
  • abnormality of the heart valves
  • situs inversus totalis
  • hypoplastic toenails
  • foot polydactyly
  • emphysema
  • nail dysplasia
  • acute leukemia
  • malformation of the heart and great vessels
  • abnormality of pelvic girdle bone morphology
  • delayed skeletal maturation
  • genu valgum
  • cubitus valgus
  • micromelia
  • synostosis of carpal bones
  • abnormality of bone marrow cell morphology
  • atrioventricular canal defect
  • aplasia/hypoplasia of the lungs
  • renal hypoplasia/aplasia
  • neonatal short-limb short stature
  • short distal phalanx of finger
  • short thorax
  • conical incisor
  • abnormal hair quantity
  • abnormality of oral mucosa

HPO human phenotypes related to Ellis-Van Creveld Syndrome:

(show all 57)
id Description Frequency HPO Source Accession
1 narrow chest hallmark (90%) HP:0000774
2 abnormality of the fingernails hallmark (90%) HP:0001231
3 atria septal defect hallmark (90%) HP:0001631
4 abnormality of the heart valves hallmark (90%) HP:0001654
5 complete atrioventricular canal defect hallmark (90%) HP:0001674
6 hypoplastic toenails hallmark (90%) HP:0001800
7 genu valgum hallmark (90%) HP:0002857
8 limb undergrowth hallmark (90%) HP:0009826
9 short distal phalanx of finger hallmark (90%) HP:0009882
10 short thorax hallmark (90%) HP:0010306
11 cryptorchidism typical (50%) HP:0000028
12 strabismus typical (50%) HP:0000486
13 microdontia typical (50%) HP:0000691
14 intrauterine growth retardation typical (50%) HP:0001511
15 ventricular septal defect typical (50%) HP:0001629
16 situs inversus totalis typical (50%) HP:0001696
17 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
18 abnormality of female internal genitalia occasional (7.5%) HP:0000008
19 thin vermilion border occasional (7.5%) HP:0000233
20 delayed eruption of teeth occasional (7.5%) HP:0000684
21 emphysema occasional (7.5%) HP:0002097
22 acute leukemia occasional (7.5%) HP:0002488
23 delayed skeletal maturation occasional (7.5%) HP:0002750
24 cubitus valgus occasional (7.5%) HP:0002967
25 synostosis of carpal bones occasional (7.5%) HP:0005048
26 abnormality of bone marrow cell morphology occasional (7.5%) HP:0005561
27 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
28 abnormal hair quantity occasional (7.5%) HP:0011362
29 cognitive impairment occasional (7.5%) HP:0100543
30 cryptorchidism HP:0000028
31 epispadias HP:0000039
32 hypospadias HP:0000047
33 cleft upper lip HP:0000204
34 hypodontia HP:0000668
35 delayed eruption of teeth HP:0000684
36 natal tooth HP:0000695
37 pectus carinatum HP:0000768
38 short ribs HP:0000773
39 narrow chest HP:0000774
40 horizontal ribs HP:0000888
41 ectodermal dysplasia HP:0000968
42 postaxial hand polydactyly HP:0001162
43 capitate-hamate fusion HP:0001241
44 intellectual disability HP:0001249
45 dandy-walker malformation HP:0001305
46 atria septal defect HP:0001631
47 talipes equinovarus HP:0001762
48 postaxial foot polydactyly HP:0001830
49 nail dysplasia HP:0002164
50 genu valgum HP:0002857
51 hypoplastic iliac wing HP:0002866
52 short long bone HP:0003026
53 cone-shaped epiphyses of phalanges 2 to 5 HP:0006035
54 abnormality of the alveolar ridges HP:0006477
55 neonatal short-limb short stature HP:0008921
56 acetabular spurs HP:0010454
57 common atrium HP:0011565

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

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Interventional clinical trials:

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

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 Dysplasia25
2 Ellis-Van Creveld Syndrome23 EVC2

Anatomical Context for Ellis-Van Creveld Syndrome

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.5DYNC2H1, MSX1, TTC21B, WDR19, WDR35
2MP:00053848.2DYNC2H1, EVC, EVC2, IFT80, TTC21B, WDR19
3MP:00053827.6DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
4MP:00053787.4DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
5MP:00107687.2DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
6MP:00053717.1DYNC2H1, EVC, EVC2, IFT80, MSX1, TTC21B
7MP:00053906.8DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1

Publications for Ellis-Van Creveld Syndrome

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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 195)
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:

68
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 19)
id Gene Variation Type Significance SNP ID Assembly Location
1EVC2NM_147127.4(EVC2): c.2263C> T (p.Gln755Ter)single nucleotide variantPathogenicrs751356206GRCh37Chr 4, 5624502: 5624502
2EVC2NM_147127.4(EVC2): c.3405_3411delCGGGGCC (p.Gly1136Argfs)deletionPathogenicrs750396637GRCh37Chr 4, 5570317: 5570323
3EVC2EVC2, IVS5, A-G, -2single nucleotide variantPathogenic
4EVC2NM_147127.4(EVC2): c.2653C> T (p.Arg885Ter)single nucleotide variantPathogenicrs146538906GRCh37Chr 4, 5620258: 5620258
5EVC2EVC2, 1-BP DEL, 3660CdeletionPathogenic
6EVC2EVC2, 5-BP INS, NT198insertionPathogenic
7EVC2EVC2, 1-BP INS, 2056CinsertionPathogenic
8EVC2NM_001166136.1(EVC2): c.955C> T (p.Arg319Ter)single nucleotide variantPathogenicrs137852924GRCh37Chr 4, 5642516: 5642516
9EVC2NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter)single nucleotide variantPathogenicrs137852925GRCh37Chr 4, 5630317: 5630317
10EVC2NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg)single nucleotide variantPathogenicrs137852926GRCh37Chr 4, 5683009: 5683009
11EVC2NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter)single nucleotide variantPathogenicrs137852927GRCh37Chr 4, 5577974: 5577974
12EVC2NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp)single nucleotide variantPathogenicrs137852928GRCh37Chr 4, 5586559: 5586559
13EVCNM_153717.2(EVC): c.1886+5G> Tsingle nucleotide variantPathogenicrs794726665GRCh37Chr 4, 5795449: 5795449
14EVCNM_153717.2(EVC): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs121908424GRCh37Chr 4, 5810001: 5810001
15EVCNM_153717.2(EVC): c.1018C> T (p.Arg340Ter)single nucleotide variantPathogenicrs121908425GRCh37Chr 4, 5749953: 5749953
16EVCNM_153717.2(EVC): c.735delT (p.Asp246Thrfs)deletionPathogenicrs587776619GRCh37Chr 4, 5743475: 5743475
17EVCNM_153717.2(EVC): c.1328G> A (p.Arg443Gln)single nucleotide variantPathogenicrs35953626GRCh37Chr 4, 5755524: 5755524
18EVCNM_153717.2(EVC): c.919T> C (p.Ser307Pro)single nucleotide variantPathogenicrs121908426GRCh37Chr 4, 5747048: 5747048
19EVCNM_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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Pathways related to Ellis-Van Creveld Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
8.4DYNC2H1, EVC, EVC2, TTC21B, WDR19, WDR35
2
Show member pathways
7.2DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35
37.2DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35

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:00601709.8EVC, EVC2
3cytoskeletonGO:00058569.7EVC2, TTC21B, WDR19
4ciliary basal bodyGO:00360649.5EVC, WDR34, WDR35
5axonemeGO:00059309.3DYNC2H1, WDR34, WDR35
6ciliumGO:00059298.1EVC, EVC2, IFT80, TTC21B, WDR19, WDR35
7ciliary tipGO:00975427.8DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35
8primary ciliumGO:00723727.8DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35
9cytoplasmGO:00057376.4EVC, EVC2, IFT80, MSX1, NEK1, TTC21B

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein localization to ciliumGO:006151210.2TTC21B, WDR35
2positive regulation of smoothened signaling pathwayGO:00458809.8DYNC2H1, EVC, IFT80
3cartilage developmentGO:00512169.8EVC, MSX1
4intraciliary retrograde transportGO:00357219.5DYNC2H1, TTC21B, WDR19, WDR35
5forebrain developmentGO:00309009.5DYNC2H1, MSX1
6bone morphogenesisGO:00603499.4IFT80, MSX1
7cilium morphogenesisGO:00602719.0DYNC2H1, IFT80, TTC21B, WDR19
8embryonic limb morphogenesisGO:00303269.0DYNC2H1, MSX1, WDR19
9smoothened signaling pathwayGO:00072248.8EVC, EVC2, IFT80, TTC21B, WDR19
10cilium assemblyGO:00423848.6DYNC2H1, IFT80, NEK1, WDR19, WDR35

Sources for Ellis-Van Creveld Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet