MCID: ELL001
MIFTS: 57

Ellis-Van Creveld Syndrome malady

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

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, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 51Orphanet, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ellis-Van Creveld Syndrome:

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

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

HPO:

61
ellis-van creveld syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 225500
Disease Ontology10 DOID:12714
ICD1027 Q77.6
ICD9CM29 756.55
MeSH36 D004613
NCIt42 C84684
SNOMED-CT59 62501005
Orphanet51 289
ICD10 via Orphanet28 Q77.6
MESH via Orphanet37 D004613
UMLS via Orphanet66 C0013903
MedGen34 C0013903
UMLS65 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 evc-related ellis-van creveld syndrome, and has symptoms including short thorax, short distal phalanx of finger and limb undergrowth. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (EvC Ciliary Complex Subunit 2), and among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance. Affiliated tissues include bone, heart and lung, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

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 top 50)    (show all 189)
idRelated DiseaseScoreTop Affiliating Genes
1weyers acrofacial dysostosis27.7DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
2evc-related ellis-van creveld syndrome12.8
3evc2-related ellis-van creveld syndrome12.8
4chondroectodermal dysplasia with night blindness12.6
5axial mesodermal dysplasia spectrum12.5
6asphyxiating thoracic dystrophy11.6
7short-rib thoracic dysplasia 7 with or without polydactyly10.9
8short-rib thoracic dysplasia 10 with or without polydactyly10.9
9short-rib thoracic dysplasia 4 with or without polydactyly10.9
10short-rib thoracic dysplasia 2 with or without polydactyly10.9
11short-rib thoracic dysplasia 5 with or without polydactyly10.9
12short-rib thoracic dysplasia 6 with or without polydactyly10.9
13short-rib thoracic dysplasia 8 with or without polydactyly10.9
14short-rib thoracic dysplasia 11 with or without polydactyly10.9
15short-rib thoracic dysplasia 3 with or without polydactyly10.9
16short-rib thoracic dysplasia 14 with polydactyly10.9
17short-rib thoracic dysplasia 9 with or without polydactyly10.9
18hepatitis10.8
19cerebritis10.8
20short-rib thoracic dysplasia 13 with or without polydactyly10.7
21short-rib thoracic dysplasia 1 with or without polydactyly10.7
22malaria10.7
23lymphoma10.7
24melanoma10.7
25tuberculosis10.7
26thyroiditis10.7
27systemic lupus erythematosus10.6
28leukemia10.6
29esophagitis10.6
30cholestasis10.6
31personality disorder10.6
32urticaria10.6
33tularemia10.6
34lateral sclerosis10.6
35adenocarcinoma10.6
36infertility10.6
37neuronitis10.6
38tongue cancer10.6
39lupus erythematosus10.6
40aneurysm10.6
41myocardial infarction10.5
42hiv-110.5
43prostate cancer10.5
44asthma10.5
45breast cancer10.5
46crigler-najjar syndrome, type ii10.5
47obesity10.5
48hepatitis c virus10.5
49myelodysplastic syndrome10.5
50dandy-walker syndrome10.5

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

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

Anatomical Context for Ellis-Van Creveld Syndrome

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

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

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3DYNC2H1, IFT140, IFT80, NEK1, TTC21B
2MP:00053818.1DYNC2H1, IFT140, MSX1, WDR19, WDR35
3MP:00053918.1DYNC2H1, IFT140, IFT80, MSX1, WDR19
4MP:00053807.4DYNC2H1, IFT140, KIAA0586, MSX1, TTC21B, WDR19
5MP:00036317.0DYNC2H1, IFT140, KIAA0586, MSX1, NEK1, TTC21B
6MP:00053846.8DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
7MP:00053716.3DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
8MP:00053785.9DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
9MP:00053825.8DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
10MP:00107685.8DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
11MP:00053905.5DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586

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
Evolving Therapeutic Strategies in Mucosal Melanoma Have Not Improved Survival Over Five Decades. (26802836)
2016
2
Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. (26877140)
2016
3
Tuberculous endometritis - An unusual cause of postmenopausal bleeding in the United Kingdom. (26408268)
2015
4
ARID5B polymorphism confers an increased risk to acquire specific MLL rearrangements in early childhood leukemia. (24564228)
2014
5
Genetic variations in cytotoxic T-lymphocyte antigen-4 and susceptibility to cervical cancer. (24201079)
2014
6
Hypopyon as the first sign of relapse in acute lymphoblastic leukaemia. (23400411)
2013
7
LOH and genetic polymorphysms of breast cancer]. (23350368)
2012
8
Possible nosocomial transmission of measles in unvaccinated children in a Singapore public hospital. (23908931)
2012
9
Oxidative stress induced NMDA receptor alteration leads to spatial memory deficits in temporal lobe epilepsy: ameliorative effects of Withania somnifera and Withanolide A. (22700086)
2012
10
NMDA receptor genotypes associated with the vulnerability to develop dyskinesia. (22832729)
2012
11
Aggressive fibromatosis in children: a changing approach. (21909066)
2011
12
Caspase recruitment domain 15 gene haplotypes in sarcoidosis. (21388357)
2011
13
Refractory anemia leading to renal hemosiderosis and renal failure. (21623097)
2011
14
Does morbid obesity negatively affect the hospital course of patients undergoing treatment of closed, lower-extremity diaphyseal long-bone fractures? (21210630)
2011
15
Can the duration of vomiting predict postoperative outcomes in hypertrophic pyloric stenosis? (22048507)
2011
16
T-cadherin is located in the nucleus and centrosomes in endothelial cells. (19726744)
2009
17
TGF-beta regulates the expression of transcription factor KLF6 and its splice variants and promotes co-operative transactivation of common target genes through a Smad3-Sp1-KLF6 interaction. (19076057)
2009
18
Outcome after extended callosal section in patients with primary idiopathic generalized epilepsy. (19054399)
2009
19
Age and hormone replacement therapy as factors influencing androgen levels in the postmenopausal female. (19191727)
2009
20
Detection of B7-H4 and p53 in pancreatic cancer: potential role as a cytological diagnostic adjunct. (18376314)
2008
21
Physiologic neurocirculatory patterns in the head-up tilt test in children with orthostatic intolerance. (18353058)
2008
22
Rarebit perimetry and frequency doubling technology in patients with ocular hypertension. (18320512)
2008
23
Bach1 repression of ferritin and thioredoxin reductase1 is heme-sensitive in cells and in vitro and coordinates expression with heme oxygenase1, beta-globin, and NADP(H) quinone (oxido) reductase1. (17901053)
2007
24
Dynamic phospholipid signaling by G protein-coupled receptors. (17054901)
2007
25
BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. (17182842)
2007
26
Multiple endocrine neoplasia-like syndrome in a horse. (17041068)
2006
27
A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. (17186458)
2006
28
Acute myeloid leukemia cell lines MOLM-17 and MOLM-18 derived from patient with advanced myelodysplastic syndromes. (15863212)
2005
29
Effect of enalapril on left ventricular diameters and exercise capacity in asymptomatic or mildly symptomatic patients with regurgitation secondary to mitral valve prolapse or rheumatic heart disease. (15979448)
2005
30
Primary sternal plating in high-risk patients prevents mediastinitis. (15296898)
2004
31
Serotonin transporter missense mutation associated with a complex neuropsychiatric phenotype. (14593431)
2003
32
A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2. (12761252)
2003
33
Catatonia and Parkinsonism due to extrapontine myelinolysis following rapid correction of hyponatremia: a case report. (12528003)
2003
34
Encystation-specific regulation of the cyst wall protein 2 gene in Giardia lamblia by multiple cis-acting elements. (13129521)
2003
35
A tumor-suppressive role for trypsin in human cancer progression. (14583448)
2003
36
Giant iliopsoas bursitis: sonographic findings with magnetic resonance correlations. (12210463)
2002
37
Elevated levels of leptin and insulin but not of TNF alpha are associated with hypertension in type 2 diabetic males. (10961356)
2000
38
Prevention of constitutive TNF receptor 1 signaling by silencer of death domains. (9915703)
1999
39
Bilateral secondary syphilis of the tonsil. (10767935)
1999
40
Mammalian reproductive tract mucins. (10465520)
1999
41
The protective activity of alpha-hederine against H2O2 genotoxicity in HepG2 cells by alkaline comet assay. (10521688)
1999
42
Steady-state transcript levels of the porphobilinogen deaminase gene in patients with acute intermittent porphyria. (9371741)
1997
43
Cloning and expression of human deoxyguanosine kinase cDNA. (8692979)
1996
44
Reversible acquired tracheobronchomalacia of a combined crescent type and saber-sheath type. (7782624)
1995
45
Hearing loss in Paget's disease of bone: the relationship between pure-tone thresholds and mineral density of the cochlear capsule. (7607977)
1995
46
Alcohol intake modulates the effect of a polymorphism of the cholesteryl ester transfer protein gene on plasma high density lipoprotein and the risk of myocardial infarction. (7657837)
1995
47
HM-PAO-SPECT in persistent vegetative state after head injury: prognostic indicator of the likelihood of recovery? (2071761)
1991
48
Prosopo-affective agnosia as a symptom of cerebral organic disease. (429743)
1979
49
Physicochemical and functional characterization of the C1r subunit of the first complement component. (814163)
1976
50
Correlation of hypercementosis with toxic goiter; a preliminary report. (14888775)
1951

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 pathwaysScoreTop Affiliating Genes
17.7DYNC2H1, IFT140, IFT80, TTC21B, WDR19, WDR35
2
Show member pathways
7.7DYNC2H1, IFT140, IFT80, TTC21B, WDR19, WDR35
3
Show member pathways
7.5DYNC2H1, EVC, EVC2, IFT140, TTC21B, WDR19

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:00309918.8IFT140, WDR19, WDR35
2ciliary tipGO:00975427.8DYNC2H1, IFT140, IFT80, WDR19, WDR35

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of smoothened signaling pathwayGO:00458809.7DYNC2H1, EVC
2smoothened signaling pathwayGO:00072249.7IFT80, WDR19
3regulation of smoothened signaling pathwayGO:00085899.6IFT140, TTC21B
4bone morphogenesisGO:00603499.4IFT80, MSX1
5embryonic limb morphogenesisGO:00303269.0DYNC2H1, MSX1, WDR19
6cilium morphogenesisGO:00602717.9IFT140, IFT80, KIAA0586, TTC21B, WDR19

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