MCID: ELL001
MIFTS: 57

Ellis-Van Creveld Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Respiratory diseases, Bone diseases, Skin diseases, Fetal diseases categories

Aliases & Classifications for Ellis-Van Creveld Syndrome

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 29ICD9CM, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

Name: Ellis-Van Creveld Syndrome 49 10 11 45 22 23 47 12 65 36 67
Chondroectodermal Dysplasia 10 45 22 23 51 24 67
Mesoectodermal Dysplasia 45 22 65 67
Evc 22 67
 
Ellis-Van Creveld Dysplasia 23
Ellis Van Creveld Syndrome 51
Mesodermic Dysplasia 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age


External Ids:

OMIM49 225500
Disease Ontology10 DOID:12714
MeSH36 D004613
ICD9CM29 756.55
NCIt42 C84684
Orphanet51 289
SNOMED-CT59 62501005
ICD10 via Orphanet28 Q77.6
MESH via Orphanet37 D004613
UMLS via Orphanet66 C0013903
ICD1027 Q77.6
MedGen34 C0013903

Summaries for Ellis-Van Creveld Syndrome

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NIH Rare Diseases:45 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 short-rib thoracic dysplasia 6 with or without polydactyly, 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 (Ellis Van Creveld Syndrome 2), and among its related pathways are Signaling by Hedgehog and Organelle biogenesis and maintenance. Affiliated tissues include bone, heart and testes, and related mouse phenotypes are embryogenesis and limbs/digits/tail.

Genetics Home Reference:23 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:49 Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs,... (225500) more...

UniProtKB/Swiss-Prot:67 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:68 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 45)
idRelated DiseaseScoreTop Affiliating Genes
1weyers acrofacial dysostosis31.1EVC, EVC2
2short-rib thoracic dysplasia 6 with or without polydactyly31.0DYNC2H1, NEK1
3short-rib thoracic dysplasia 3 with or without polydactyly29.7DYNC2H1, IFT80, NEK1, WDR34, WDR35, WDR60
4polydactyly10.9
5ectodermal dysplasia10.8
6evc-related ellis-van creveld syndrome10.7
7evc2-related ellis-van creveld syndrome10.7
8axial mesodermal dysplasia spectrum10.7
9short-rib thoracic dysplasia 7 with or without polydactyly10.6
10short-rib thoracic dysplasia 10 with or without polydactyly10.6
11short-rib thoracic dysplasia 4 with or without polydactyly10.6
12short-rib thoracic dysplasia 2 with or without polydactyly10.6
13short-rib thoracic dysplasia 5 with or without polydactyly10.6
14short-rib thoracic dysplasia 8 with or without polydactyly10.6
15short-rib thoracic dysplasia 11 with or without polydactyly10.6
16short-rib thoracic dysplasia 14 with polydactyly10.6
17short-rib thoracic dysplasia 9 with or without polydactyly10.6
18dysostosis10.6
19dwarfism10.6
20chondroectodermal dysplasia with night blindness10.5
21short-rib thoracic dysplasia 13 with or without polydactyly10.5
22short-rib thoracic dysplasia 1 with or without polydactyly10.5
23craniosynostosis10.5
24hepatitis10.5
25asphyxiating thoracic dystrophy10.5
26nephronophthisis10.5
27facial hemiatrophy10.5
28renal-hepatic-pancreatic dysplasia10.5
29synpolydactyly10.5
30situs inversus10.5
31autosomal recessive disease10.5
32congenital heart disease10.5
33esotropia10.5
34nephrotic syndrome10.5
35pancreatitis10.5
36focal dermal hypoplasia10.2
37hypotrichosis10.1
38strabismus10.1
39congenital bile acid synthesis defect10.1EVC, EVC2
40troyer syndrome10.0EVC, EVC2
41senior-loken syndrome-110.0TTC21B, WDR19
42central nervous system origin vertigo9.3DYNC2H1, EVC, NEK1, WDR34, WDR35, WDR60
43cranioectodermal dysplasia 19.2DYNC2H1, EVC, EVC2, IFT80, NEK1, TTC21B
44intestinal schistosomiasis8.8DYNC2H1, EVC, IFT80, NEK1, TTC21B, WDR19
45ellis-van creveld syndrome8.4DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1

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:

 51 (show all 50)
  • anomalies of tongue, gingiva and oral mucosa
  • anomalies of teeth and dentition
  • narrow rib cage/thorax
  • short rib cage/thorax
  • rhizomelic micromelia
  • terminal/third phalangeal bone of fingers hypoplasia
  • upper limb polydactyly/hexadactyly
  • genu valgum
  • polydactyly of toes
  • hair and scalp anomalies
  • nails anomalies
  • abnormal fingernails
  • thin/hypoplastic/hyperconvex fingernails
  • thin/hypoplastic toenails
  • cardiac valvulopathy
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • atrioventricular canal
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • strabismus/squint
  • oral synechiae/abnormal frenulae
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • wrist/carpal anomalies
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus
  • ventricular septal defect/interventricular communication
  • renal/kidney anomalies
  • bladder and ureter anomalies
  • hypospadias/epispadias/bent penis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • intrauterine growth retardation
  • thin/retracted lips
  • delayed dentition/eruption of teeth/lack of eruption of teeth
  • cubitus valgus
  • carpal bones fusion/synostosis
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • emphysema
  • agenesis/hypoplasia/aplasia of kidneys
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • uterine/uterus/fallopian tubes anomalies
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • anomalies of bones/skeletal anomalies
  • delayed bone age
  • bone marrow anomalies
  • acute leukemia
  • stillbirth/neonatal death

HPO human phenotypes related to Ellis-Van Creveld Syndrome:

(show all 58)
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 autosomal recessive inheritance HP:0000007
31 cryptorchidism HP:0000028
32 epispadias HP:0000039
33 hypospadias HP:0000047
34 cleft upper lip HP:0000204
35 hypodontia HP:0000668
36 delayed eruption of teeth HP:0000684
37 natal tooth HP:0000695
38 pectus carinatum HP:0000768
39 short ribs HP:0000773
40 narrow chest HP:0000774
41 horizontal ribs HP:0000888
42 ectodermal dysplasia HP:0000968
43 postaxial hand polydactyly HP:0001162
44 capitate-hamate fusion HP:0001241
45 intellectual disability HP:0001249
46 dandy-walker malformation HP:0001305
47 atria septal defect HP:0001631
48 talipes equinovarus HP:0001762
49 postaxial foot polydactyly HP:0001830
50 nail dysplasia HP:0002164
51 genu valgum HP:0002857
52 hypoplastic iliac wing HP:0002866
53 short long bone HP:0003026
54 cone-shaped epiphyses of phalanges 2 to 5 HP:0006035
55 abnormality of the alveolar ridges HP:0006477
56 neonatal short-limb short stature HP:0008921
57 acetabular spurs HP:0010454
58 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 Ellis-Van Creveld Syndrome22 EVC2
2 Chondroectodermal Dysplasia24

Anatomical Context for Ellis-Van Creveld Syndrome

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

33
Bone, Heart, Testes, Lung, Bone marrow, Kidney, Uterus

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.0DYNC2H1, MSX1, TTC21B, WDR19, WDR35
2MP:00053717.4DYNC2H1, EVC, EVC2, IFT80, MSX1, TTC21B
3MP:00053827.3DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
4MP:00107687.2DYNC2H1, EVC, EVC2, IFT80, MSX1, NEK1
5MP:00053907.0DYNC2H1, 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 185)
idTitleAuthorsYear
1
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. (26064711)
2015
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
Ellis van Creveld Syndrome (EVCS) in an Iranian, Three-Year-old Girl: A Case Report. (25478422)
2014
6
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. (24168757)
2013
7
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. (23924873)
2013
8
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. (23220543)
2013
9
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. (22344360)
2012
10
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
11
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (23276573)
2012
12
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
13
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
14
Ellis-van Creveld syndrome: case report and review of the literature. (19681341)
2009
15
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. (18454448)
2008
16
Anaesthetic management of patient with Ellis Van Creveld syndrome. (18822649)
2008
17
Growth hormone analysis and treatment in Ellis-van Creveld syndrome. (17702014)
2007
18
Ellis van Creveld syndrome associated with bilateral tibial exostoses. (16719281)
2006
19
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). (15717287)
2005
20
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (15054850)
2004
21
Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives. (15056248)
2004
22
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (12571802)
2003
23
Liver transplantation in Ellis-van Creveld syndrome: a case report. (12100513)
2002
24
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. (11244665)
2001
25
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
26
Prenatal sonographic diagnosis of ellis-van creveld syndrome. (10602104)
2000
27
Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case. (9728102)
1998
28
Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. (8921652)
1996
29
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. (8882877)
1996
30
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? (7628126)
1995
31
Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? (1877634)
1991
32
Quiz. Ellis-Van Creveld syndrome or chondroectodermic dysplasia. (1893791)
1991
33
Oral abnormalities in the Ellis-van Creveld syndrome: case report. (3272958)
1988
34
Ellis-van Creveld syndrome, (chondroectodermal dysplasia syndrome) in a Gurkha family. (3193391)
1988
35
Dandy-Walker malformation in Ellis-van Creveld syndrome. (3223493)
1988
36
Ellis-van Creveld syndrome in Kerala. (3451420)
1987
37
Growth characteristics and dermatoglyphic patterns in a body with Ellis-van Creveld syndrome. (2430385)
1986
38
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. (6709909)
1984
39
Ellis Van-Creveld syndrome. (7169455)
1982
40
Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. (7218275)
1980
41
Ellis-van Creveld syndrome--oral aspects. (282410)
1978
42
Two cases of Ellis-van Creveld syndrome in a small island population. (839498)
1977
43
Ellis-van Creveld syndrome. An inbred kindred with five cases. (887831)
1977
44
Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy. (4661983)
1972
45
Ellis-van Creveld syndrome. (5944783)
1966
46
Ellis-van Creveld syndrome in identical twins. (5858104)
1965
47
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. (14217223)
1964
48
Congenital heart disease in an adult with the Ellis-van Creveld syndrome. (13994651)
1962
49
Chondroectodermal dysplasia: Ellis-van Creveld syndrome. (14460905)
1962
50
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases in sibship and review of literature. (13636702)
1959

Variations for Ellis-Van Creveld Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1EVC2p.Ile283ArgVAR_017209
2EVC2p.Arg950TrpVAR_017211
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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.3DYNC2H1, EVC, EVC2, TTC21B, WDR19, WDR35
2
Show member pathways
7.1DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35
37.1DYNC2H1, 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
1ciliary membraneGO:006017010.2EVC, EVC2
2intraciliary transport particle AGO:00309919.8TTC21B, WDR19, WDR35
3ciliary basal bodyGO:00360649.1EVC, WDR34, WDR35
4axonemeGO:00059309.0DYNC2H1, WDR34, WDR35
5ciliumGO:00059297.7EVC, EVC2, IFT80, TTC21B, WDR19, WDR35
6ciliary tipGO:00975427.5DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35
7primary ciliumGO:00723727.5DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35

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:00458809.9DYNC2H1, EVC, IFT80
3embryonic limb morphogenesisGO:00303269.6DYNC2H1, MSX1
4cilium morphogenesisGO:00602719.6DYNC2H1, IFT80, TTC21B
5forebrain developmentGO:00309009.5DYNC2H1, MSX1
6intraciliary retrograde transportGO:00357219.5DYNC2H1, TTC21B, WDR19, WDR35
7smoothened signaling pathwayGO:00072249.5EVC, EVC2, IFT80, TTC21B
8bone morphogenesisGO:00603499.1IFT80, MSX1
9cilium assemblyGO:00423848.6DYNC2H1, IFT80, NEK1, WDR19, WDR35
10organelle organizationGO:00069967.0DYNC2H1, IFT80, TTC21B, WDR19, WDR34, WDR35

Sources for Ellis-Van Creveld Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet