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 hypotrichosis/atrichia/atrichiasis/scalp hairlessness, carpal bones fusion/synostosis and cubitus valgus. 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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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 48Orphanet, 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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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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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

225500

Clinical synopsis from OMIM:

225500

Symptoms:

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

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

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

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Drug clinical trials:

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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, Uterus, Bone marrow, Tongue, Lung, Skin, 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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50PubMed
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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. (23220543)
2013
2
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (23276573)
2012
3
Correction of knee deformity in patients with Ellis-van Creveld syndrome: A case report and review of the literature. (21470865)
2012
4
Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings. (22406498)
2012
5
Oral manifestations of Ellis-van Creveld syndrome. (22629068)
2012
6
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
7
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. (21815252)
2011
8
Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum. (22190900)
2011
9
Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. (20184732)
2010
10
Ellis-van Creveld syndrome: case report and review of the literature. (19681341)
2009
11
Disproportionate short stature with multisystem involvement - Ellis-van Creveld syndrome. (20042164)
2009
12
Clinical manifestations of Ellis-van Creveld syndrome. (19915279)
2009
13
Ellis-van Creveld syndrome: a case report. (18974540)
2008
14
Ellis-van Creveld syndrome. (17547743)
2007
15
Chondroectodermal dysplasia (Ellis van Creveld syndrome): a report of three cases with review of literature. (17347543)
2007
16
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. (17024374)
2007
17
Ellis Van Creveld syndrome. (17921643)
2007
18
Ellis van Creveld syndrome associated with bilateral tibial exostoses. (16719281)
2006
19
Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome. (15844783)
2005
20
From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome]. (15884406)
2005
21
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (15054850)
2004
22
Liver transplantation in Ellis-van Creveld syndrome: a case report. (12100513)
2002
23
Ellis-van Creveld syndrome associated with thymic hypoplasia. (12538281)
2002
24
Prenatal sonographic diagnosis of ellis-van creveld syndrome. (10602104)
2000
25
Ellis-van Creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. (11314324)
2000
26
Ellis-van Creveld syndrome and the Amish. (10700162)
2000
27
Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating. (11155425)
2000
28
Correction of knee deformity in patients with Ellis-van Creveld syndrome. (10513365)
1999
29
Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies. (9643193)
1998
30
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers. (9621386)
1998
31
Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report. (8921652)
1996
32
Bilateral duplication of the primary ulnar ossification center in Ellis-van Creveld syndrome. (8905199)
1996
33
Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). (8465854)
1993
34
Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation? (1435447)
1992
35
Ellis-van Creveld syndrome in Kerala. (3451420)
1987
36
Growth characteristics and dermatoglyphic patterns in a body with Ellis-van Creveld syndrome. (2430385)
1986
37
The radiological diagnosis of the Ellis-van Creveld syndrome in the newborn. Report of one case. (3759901)
1986
38
Developmental dental anomalies in chondroectodermal dysplasia (Ellis-van Creveld syndrome). (6928132)
1980
39
Ellis-van Creveld syndrome--oral aspects. (282410)
1978
40
Ellis van Creveld syndrome (a case report). (669782)
1978
41
Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. (876300)
1977
42
Chondroectodermal dysplasia (ellis-van Creveld syndrome). (1002258)
1976
43
Orthopaedic aspects of the Ellis-van Creveld syndrome. (1201360)
1975
44
Orthopaeidc aspects of the Ellis-van CREVELD SYNDROME. (1164579)
1975
45
Ellis-van Creveld syndrome. A report of previously undescribed anomalies in two siblings. (5568596)
1971
46
Ellis-Van Creveld syndrome. (5640534)
1968
47
Chondro-ectodermal dysplasia. Ellis-Van Creveld syndrome: a case report. (5583210)
1967
48
Segregation of the Ellis-van Creveld Syndrome as Analyzed by the First Appearance Method. (17948500)
1965
49
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. (14217223)
1964
50
Ellis-Van Creveld syndrome. Report of two cases. (13793041)
1960

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
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14FMA
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23HGMD
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25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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35MESH via Orphanet
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47OMIM via Orphanet
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57SNOMED-CT via Orphanet
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