MCID: ELL001
MIFTS: 64

Ellis-Van Creveld Syndrome malady

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

Summaries for Ellis-Van Creveld Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 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.

MalaCards: Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to polydactyly and dysostosis, and has symptoms including anodontia/oligodontia/hypodontia, thin/retracted lips and hypospadias/epispadias/bent penis. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (Ellis van Creveld syndrome 2). Affiliated tissues include bone, heart and testes, and related mouse phenotypes are respiratory system and limbs/digits/tail.

Wikipedia:63 Ellis–van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but... more...

Description from OMIM:46 225500

Aliases & Classifications for Ellis-Van Creveld Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 34MeSH, 27ICD9CM, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

ellis-van creveld syndrome 8 9 42 20 21 46 10 44 60
chondroectodermal dysplasia 8 42 22 21 48
ellis-van creveld dysplasia 21
ellis van creveld syndrome 48
mesoectodermal dysplasia 42
mesodermic dysplasia 48


External Ids:

Disease Ontology8 DOID:12714
NCIt39 C84684
MeSH34 D004613
OMIM46 225500
ICD9CM27 756.55
SNOMED-CT56 62501005
MESH via Orphanet35 D004613
ICD10 via Orphanet26 Q77.6
SNOMED-CT via Orphanet57 62501005
UMLS via Orphanet61 C0013903

Related Diseases for Ellis-Van Creveld Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Ellis-Van Creveld Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly31.1EVC, EVC2
2dysostosis30.8EVC2, EVC
3congenital heart defect30.8EVC, MKKS
4asphyxiating thoracic dystrophy 330.6DYNC2H1
5asphyxiating thoracic dystrophy30.5EVC, TTC21B, WDR35, WDR19, NEK1, DYNC2H1
6adult syndrome10.5
7dwarfism10.5
8evc-related ellis-van creveld syndrome10.5
9evc2-related ellis-van creveld syndrome10.5
10chondroectodermal dysplasia with night blindness10.5
11axial mesodermal dysplasia spectrum10.4
12dandy-walker syndrome10.4
13facial hemiatrophy10.4
14nephronophthisis10.4
15beemer-langer syndrome10.4
16situs inversus10.4
17esotropia10.4
18hepatitis10.4
19nephrotic syndrome10.4
20pancreatitis10.4
21image syndrome10.4
22weyers acrofacial dysostosis10.4
23renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.4
24short rib-polydactyly syndrome, type v10.4
25asphyxiating thoracic dystrophy 210.4
26asphyxiating thoracic dystrophy 410.4
27asphyxiating thoracic dystrophy 510.4
28short rib-polydactyly syndrome, type iia10.4
29short rib-polydactyly syndrome, type vi10.4
30focal dermal hypoplasia10.1
31cleft palate10.0
32dentin dysplasia10.0
33hypotrichosis10.0
34strabismus10.0
35short stature10.0EVC
36ectodermal dysplasia10.0EVC2
37retinal degeneration10.0MKKS
38clouston syndrome10.0EVC2
39bardet-biedl syndrome10.0TTC21B, MKKS, WDR19
40sensenbrenner syndrome10.0IFT80, EVC, EVC2, TTC21B, WDR35, WDR19

Graphical network of the top 20 diseases related to Ellis-Van Creveld Syndrome:



Diseases related to ellis-van creveld syndrome

Clinical Features for Ellis-Van Creveld Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

225500

Clinical synopsis from OMIM:

225500

Symptoms:

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

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Ellis-Van Creveld Syndrome

Drug clinical trials:

Search ClinicalTrials for Ellis-Van Creveld Syndrome

Search NIH Clinical Center for Ellis-Van Creveld Syndrome

Search CenterWatch for Ellis-Van Creveld Syndrome

Genetic Tests for Ellis-Van Creveld Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Ellis-Van Creveld Syndrome:

id Genetic test Affiliating Genes
1 Ellis-Van Creveld Syndrome20 EVC2
2 Chondroectodermal Dysplasia22

Anatomical Context for Ellis-Van Creveld Syndrome

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32MalaCards
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MalaCards organs/tissues related to Ellis-Van Creveld Syndrome:

32
Bone, Heart, Testes, Kidney, Skin, Tongue, Lung, Uterus, Bone marrow, Liver

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7MSX1, TANK, MKKS, WDR35, DYNC2H1
2MP:00053718.1MSX1, IFT80, DYNC2H1, WDR19, WDR35, MKKS
3MP:00053828.0IFT80, DYNC2H1, NEK1, WDR19, MKKS, TTC21B
4MP:00053907.9IFT80, DYNC2H1, NEK1, WDR19, WDR35, TTC21B
5MP:00036317.6DYNC2H1, CRMP1, NEK1, TBR1, WDR19, MKKS
6MP:00107687.0IFT80, DYNC2H1, NEK1, TBR1, WDR19, WDR35

Publications for Ellis-Van Creveld Syndrome

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Sources:
50PubMed
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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. (24168757)
2013
2
Ellis-van Creveld syndrome. (23843404)
2013
3
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
4
Late survival in Ellis-van Creveld syndrome - a case report. (22929827)
2012
5
Growth charts for children with Ellis-van Creveld syndrome. (20830486)
2011
6
Oral manifestations in Ellis-van Creveld syndrome: report of a case and review of the literature. (20116723)
2010
7
Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling. (21199751)
2010
8
Ellis van Creveld syndrome with unusual association of essential infantile esotropia. (20606869)
2010
9
Oral abnormalities in the Ellis-van Creveld syndrome. (20427928)
2010
10
Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. (19876929)
2009
11
Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease. (19251731)
2009
12
A rare problem with an epidural catheter in a patient with Ellis-van Creveld syndrome. (19624380)
2009
13
Anaesthetic management of patient with Ellis Van Creveld syndrome. (18822649)
2008
14
Discordance for Ellis-van Creveld syndrome in twins. (19122938)
2008
15
Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene. (18947413)
2008
16
A rare variant of Ellis van Creveld syndrome. (17609834)
2007
17
Ilizarov deformity correction of the lower limbs in Ellis-van Creveld syndrome. (17909939)
2007
18
Ellis-van Creveld syndrome. (17392984)
2006
19
Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives. (15056248)
2004
20
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (12571802)
2003
21
Cardiac Ellis-van Creveld syndrome. (12559561)
2003
22
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. (12468274)
2002
23
Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. (11389165)
2001
24
What syndrome is this? Chondroectodermal dysplasia--the Ellis-van Creveld syndrome. (11207979)
2001
25
Ellis-Van Creveld syndrome associated with nodular sclerosing Hodgkin's disease and nephrotic syndrome. (11262993)
2000
26
Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment. (10426602)
1999
27
Oral and dental anomalies in Ellis van Creveld syndrome (chondroectodermal dysplasia): report of a case. (9728102)
1998
28
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. (8882877)
1996
29
Common atrium with Ebstein's anomaly in a neonate with Ellis-van Creveld syndrome. (7778447)
1995
30
Ellis-van Creveld syndrome. (1634791)
1992
31
Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum? (2325105)
1990
32
Oral abnormalities in the Ellis-van Creveld syndrome: case report. (3272958)
1988
33
Dandy-Walker malformation in Ellis-van Creveld syndrome. (3223493)
1988
34
Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome. (3367352)
1988
35
Ellis-van Creveld syndrome. (3449572)
1987
36
Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome. (6709909)
1984
37
Ellis--Van Creveld syndrome. (6618581)
1983
38
Two cases of Ellis-van Creveld syndrome in a small island population. (839498)
1977
39
Ellis-van Creveld syndrome. An inbred kindred with five cases. (887831)
1977
40
Ellis-van Creveld syndrome (chondro ectodermal dysplasia) associated with single atrium. (1205575)
1975
41
The Ellis-van Creveld syndrome. Report of two patients with single atrium and review of 113 cases. (5150387)
1971
42
Ellis-van Creveld syndrome associated with complete situs inversus. (5770269)
1969
43
Infantile thoracic dystrophy--a variant of Ellis-Van Creveld syndrome. (6059430)
1967
44
Ellis-van Creveld syndrome. (5944783)
1966
45
Ellis-van Creveld syndrome in identical twins. (5858104)
1965
46
CHONDROECTODERMAL DYSPLASIA (ELLIS-VAN CREVELD SYNDROME): (A CASE REPORT). (14289298)
1965
47
Chondroectodermal dysplasia: Ellis-van Creveld syndrome. (14460905)
1962
48
Ellis-van Creveld syndrome and neuroectodermal injury. (13727300)
1961
49
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases. (13505024)
1958
50
Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). (13158331)
1954

Genetic Variations for Ellis-Van Creveld Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Ellis-Van Creveld Syndrome:

62
id Symbol AA change Variation ID SNP ID
1EVC2p.Ile283ArgVAR_017209
2EVC2p.Arg950TrpVAR_017211
3EVCp.Arg443GlnVAR_009946rs35953626
4EVCp.Ser206AsnVAR_066447
5EVCp.Leu623ProVAR_066448

Expression for genes affiliated with Ellis-Van Creveld Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ellis-Van Creveld Syndrome

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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Compounds 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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16Gene Ontology
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Cellular components related to Ellis-Van Creveld Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:0315149.9MKKS, WDR19
2cilium membraneGO:0601709.7EVC, EVC2
3intraflagellar transport particle AGO:0309919.7WDR19, WDR35, TTC21B
4microtubule basal bodyGO:0059329.3EVC, EVC2, WDR35, WDR19, IFT80
5cilium axonemeGO:0350859.3IFT80, DYNC2H1, WDR35, TTC21B
6centrosomeGO:0058139.2IFT80, NEK1, WDR35, MKKS

Biological processes related to Ellis-Van Creveld Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1embryonic limb morphogenesisGO:0303269.8WDR19, DYNC2H1
2cilium morphogenesisGO:0602719.6TTC21B, MKKS, IFT80
3determination of left/right symmetryGO:0073689.5MKKS, DYNC2H1
4smoothened signaling pathwayGO:0072249.5IFT80, TTC21B, EVC2, EVC
5cilium assemblyGO:0423849.0MKKS, WDR35, WDR19, NEK1, DYNC2H1

Products for genes affiliated with Ellis-Van Creveld Syndrome

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Sources for Ellis-Van Creveld Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet