MCID: ELL001
MIFTS: 55

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

About this section
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

About this section
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

About this section

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 dysostosis25.2DYNC2H1, EVC, EVC2, IFT140, IFT80, KIAA0586
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
21short-rib thoracic dysplasia 13 with or without polydactyly10.3
22short-rib thoracic dysplasia 1 with or without polydactyly10.3
23primary lateral sclerosis, adult, 110.3EVC, EVC2
24craniosynostosis10.3
25hepatitis10.3
26asphyxiating thoracic dystrophy10.3
27autosomal recessive disease10.3
28synpolydactyly10.3
29renal-hepatic-pancreatic dysplasia10.3
30heart disease10.3
31nephrotic syndrome10.3
32nephronophthisis10.3
33congenital heart disease10.3
34facial hemiatrophy10.3
35intestinal pseudo-obstruction10.3
36pancreatitis10.3
37situs inversus10.3
38esotropia10.3
39troyer syndrome10.3EVC, EVC2
40orofaciodigital syndrome x10.2EVC, EVC2
41lymphedema, hereditary, id10.2DYNC2H1, NEK1
42mature cataract10.0EVC2, MSX1
43focal dermal hypoplasia10.0
44vitelliform macular dystrophy10.0EVC, EVC2
45hypotrichosis9.8
46strabismus9.8
47constrictive pericarditis9.7DYNC2H1, EVC, NEK1, WDR35
48epidermolysis bullosa, nonspecific, autosomal recessive9.6DYNC2H1, IFT80, NEK1, WDR35
49senior-loken syndrome-19.5IFT140, TTC21B, WDR19
50glucocorticoid-induced osteoporosis9.5IFT140, TTC21B, WDR19

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

About this section

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

About this section

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

About this section

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

About this section

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

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

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

About this section

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

About this section

Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 192)
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
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. (26621368)
2016
3
Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families. (26064711)
2015
4
Ellis-van Creveld syndrome presenting in the second decade. (26323981)
2015
5
Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding. (25939880)
2015
6
Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization. (26077781)
2015
7
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. (24168757)
2013
8
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. (23924873)
2013
9
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. (23220543)
2013
10
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. (22344360)
2012
11
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
12
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (23276573)
2012
13
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
14
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
15
Ellis-van Creveld syndrome: case report and review of the literature. (19681341)
2009
16
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. (18454448)
2008
17
Anaesthetic management of patient with Ellis Van Creveld syndrome. (18822649)
2008
18
Growth hormone analysis and treatment in Ellis-van Creveld syndrome. (17702014)
2007
19
Ellis van Creveld syndrome associated with bilateral tibial exostoses. (16719281)
2006
20
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). (15717287)
2005
21
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (15054850)
2004
22
Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives. (15056248)
2004
23
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (12571802)
2003
24
Liver transplantation in Ellis-van Creveld syndrome: a case report. (12100513)
2002
25
First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound. (11244665)
2001
26
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. (10700184)
2000
27
Prenatal sonographic diagnosis of ellis-van creveld syndrome. (10602104)
2000
28
Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case. (9728102)
1998
29
Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. (8921652)
1996
30
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. (8882877)
1996
31
Symptomatic heterozygosity in the Ellis-van Creveld syndrome? (7628126)
1995
32
Postaxial polydactyly as heterozygote manifestation in Ellis-Van Creveld syndrome? (1877634)
1991
33
Quiz. Ellis-Van Creveld syndrome or chondroectodermic dysplasia. (1893791)
1991
34
Oral abnormalities in the Ellis-van Creveld syndrome: case report. (3272958)
1988
35
Ellis-van Creveld syndrome, (chondroectodermal dysplasia syndrome) in a Gurkha family. (3193391)
1988
36
Dandy-Walker malformation in Ellis-van Creveld syndrome. (3223493)
1988
37
Ellis-van Creveld syndrome in Kerala. (3451420)
1987
38
Growth characteristics and dermatoglyphic patterns in a body with Ellis-van Creveld syndrome. (2430385)
1986
39
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. (6709909)
1984
40
Ellis Van-Creveld syndrome. (7169455)
1982
41
Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred. (7218275)
1980
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

About this section

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

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

Pathways for genes affiliated with Ellis-Van Creveld Syndrome

About this section

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

About this section

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

About this section
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