MCID: ELL001
MIFTS: 60

Ellis-Van Creveld Syndrome malady

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

Summaries for Ellis-Van Creveld Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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, testes and kidney, and related mouse phenotypes are mortality/aging and craniofacial.

Wikipedia:66 Ellis?van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see... more...

Description from OMIM:48 225500

Aliases & Classifications for Ellis-Van Creveld Syndrome

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 63UMLS, 23GTR, 50Orphanet, 36MeSH, 41NCIt, 28ICD9CM, 59SNOMED-CT, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
chondroectodermal dysplasia:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Any age


Aliases & Descriptions:

ellis-van creveld syndrome 9 10 44 21 22 48 11 46 63
chondroectodermal dysplasia 9 44 23 22 50
ellis-van creveld dysplasia 22
ellis van creveld syndrome 50
mesoectodermal dysplasia 44
mesodermic dysplasia 50


External Ids:

Disease Ontology9 DOID:12714
MeSH36 D004613
NCIt41 C84684
ICD9CM28 756.55
OMIM48 225500
SNOMED-CT59 62501005
MESH via Orphanet37 D004613
ICD10 via Orphanet27 Q77.6
SNOMED-CT via Orphanet60 62501005
UMLS via Orphanet64 C0013903

Related Diseases for Ellis-Van Creveld Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Ellis-Van Creveld Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly31.3EVC2, EVC
2dysostosis30.9EVC2, EVC
3congenital heart disease30.6EVC, MKKS
4asphyxiating thoracic dystrophy30.5TTC21B, WDR19, WDR35, EVC
5ectodermal dysplasia10.7
6axial mesodermal dysplasia spectrum10.7
7dwarfism10.6
8evc-related ellis-van creveld syndrome10.6
9evc2-related ellis-van creveld syndrome10.6
10short stature10.6
11chondroectodermal dysplasia with night blindness10.5
12facial hemiatrophy10.4
13beemer-langer syndrome10.4
14situs inversus10.4
15nephronophthisis10.4
16esotropia10.4
17hepatitis10.4
18nephrotic syndrome10.4
19pancreatitis10.4
20weyers acrofacial dysostosis10.4
21renal-hepatic-pancreatic dysplasia10.4
22short-rib thoracic dysplasia 7 with or without polydactyly10.4
23short-rib thoracic dysplasia 10 with or without polydactyly10.4
24short-rib thoracic dysplasia 4 with or without polydactyly10.4
25short-rib thoracic dysplasia 2 with or without polydactyly10.4
26short-rib thoracic dysplasia 5 with or without polydactyly10.4
27short-rib thoracic dysplasia 6 with or without polydactyly10.4
28short-rib thoracic dysplasia 8 with or without polydactyly10.4
29short-rib thoracic dysplasia 11 with or without polydactyly10.4
30short-rib thoracic dysplasia 3 with or without polydactyly10.4
31short-rib thoracic dysplasia 9 with or without polydactyly10.4
32focal dermal hypoplasia10.2
33cleft palate10.1
34hypotrichosis10.1
35strabismus10.1
36bardet-biedl syndrome 610.1MKKS
37bardet-biedl syndrome9.9WDR19, TTC21B, MKKS
38sensenbrenner syndrome9.9TTC21B, WDR19, WDR35, EVC, EVC2

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

225500

Clinical features from OMIM:

225500

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Ellis-Van Creveld Syndrome:

id Genetic test Affiliating Genes
1 Ellis-Van Creveld Syndrome21 EVC2
2 Chondroectodermal Dysplasia23

Anatomical Context for Ellis-Van Creveld Syndrome

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34MalaCards
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MalaCards organs/tissues related to Ellis-Van Creveld Syndrome:

34
Bone, Testes, Kidney, Heart, Lung, Bone marrow, Uterus, Tongue, Skin, Liver

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.3EVC2, EVC, WDR35, WDR19, MKKS
2MP:00053828.1MKKS, TTC21B, WDR19, EVC, EVC2
3MP:00053907.9TTC21B, WDR19, WDR35, EVC, EVC2
4MP:00053717.7EVC2, EVC, WDR35, WDR19, TTC21B, MKKS

Publications for Ellis-Van Creveld Syndrome

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53PubMed
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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 170)
idTitleAuthorsYear
1
Cardiac diagnoses, procedures, and healthcare utilisation in inpatients with Ellis-van Creveld syndrome. (24168757)
2013
2
A novel mutation, IVS13+5G>A, in Ellis-van Creveld syndrome associated with haemophagocytic lymphohistiocytosis. (23924873)
2013
3
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. (23220543)
2013
4
Ellis-van Creveld syndrome: its history. (23754541)
2013
5
Type 1 diabetes in a patient with Ellis-van Creveld syndrome. (22344360)
2012
6
Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome. (23026208)
2012
7
First-trimester prenatal diagnosis of Ellis-van Creveld syndrome. (23276573)
2012
8
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. (21533779)
2011
9
The importance of oral-clinical findings for the correct diagnosis of Ellis-van Creveld syndrome. (22313832)
2011
10
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. (21815252)
2011
11
Ellis-van Creveld syndrome in an Indian child: a case report. (22232726)
2011
12
Ellis-van Creveld syndrome: case report and review of the literature. (19681341)
2009
13
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. (18454448)
2008
14
Anaesthetic management of patient with Ellis Van Creveld syndrome. (18822649)
2008
15
Growth hormone analysis and treatment in Ellis-van Creveld syndrome. (17702014)
2007
16
Ellis-van Creveld syndrome. (17547743)
2007
17
Ellis van Creveld syndrome associated with bilateral tibial exostoses. (16719281)
2006
18
Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). (15717287)
2005
19
Ellis-van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (15054850)
2004
20
Atypical crossed polydactyly in two siblings with Ellis-van Creveld Syndrome and mild clinical manifestations in close relatives. (15056248)
2004
21
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (12571802)
2003
22
Liver transplantation in Ellis-van Creveld syndrome: a case report. (12100513)
2002
23
Images in cardiology: Common atrium in a child with Ellis-Van Creveld syndrome. (12117837)
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
Difficulties in differentiation between chondroectodermal dysplasia (Ellis--van Creveld syndrome) and asphyxiating thoracic dystrophy. (4661983)
1972
44
Ellis-van Creveld syndrome. (5944783)
1966
45
Ellis-van Creveld syndrome in identical twins. (5858104)
1965
46
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. (14217223)
1964
47
Congenital heart disease in an adult with the Ellis-van Creveld syndrome. (13994651)
1962
48
Chondroectodermal dysplasia: Ellis-van Creveld syndrome. (14460905)
1962
49
Chondroectodermal dysplasia (Ellis-van Creveld syndrome); report of two cases in sibship and review of literature. (13636702)
1959
50
Ellis-Van Creveld syndrome; report of two cases in siblings. (13508233)
1958

Variations for Ellis-Van Creveld Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Ellis-Van Creveld Syndrome:

65
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:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1EVC2EVC2, IVS5, A-G, -2single nucleotide variantPathogenic
2EVC2EVC2, ARG884TERundetermined variantPathogenic
3EVC2EVC2, 1-BP DEL, 3660CdeletionPathogenic
4EVC2EVC2, 5-BP INS, NT198insertionPathogenic
5EVC2EVC2, 1-BP INS, 2056CinsertionPathogenic
6EVC2NM_001166136.1(EVC2): c.955C> T (p.Arg319Ter)single nucleotide variantPathogenicrs137852924GRCh37Chr 4, 5642516: 5642516
7EVC2NM_001166136.1(EVC2): c.1615C> T (p.Gln539Ter)single nucleotide variantPathogenicrs137852925GRCh37Chr 4, 5630317: 5630317
8EVC2NM_001166136.1(EVC2): c.608T> G (p.Ile203Arg)single nucleotide variantPathogenicrs137852926GRCh37Chr 4, 5683009: 5683009
9EVC2NM_001166136.1(EVC2): c.3025C> T (p.Gln1009Ter)single nucleotide variantPathogenicrs137852927GRCh37Chr 4, 5577974: 5577974
10EVC2NM_001166136.1(EVC2): c.2608C> T (p.Arg870Trp)single nucleotide variantPathogenicrs137852928GRCh37Chr 4, 5586559: 5586559
11EVCEVC, IVS13DS, G-T, +5single nucleotide variantPathogenic
12EVCNM_153717.2(EVC): c.2635C> T (p.Gln879Ter)single nucleotide variantPathogenicrs121908424GRCh37Chr 4, 5810001: 5810001
13EVCNM_153717.2(EVC): c.1018C> T (p.Arg340Ter)single nucleotide variantPathogenicrs121908425GRCh37Chr 4, 5749953: 5749953
14EVCNM_153717.2(EVC): c.735delT (p.Asp246Thrfs)deletionPathogenicGRCh37Chr 4, 5743475: 5743475
15EVCNM_153717.2(EVC): c.1328G> A (p.Arg443Gln)single nucleotide variantPathogenicrs35953626GRCh37Chr 4, 5755524: 5755524
16EVCNM_153717.2(EVC): c.919T> C (p.Ser307Pro)single nucleotide variantPathogenicrs121908426GRCh37Chr 4, 5747048: 5747048
17EVCEVC, 1-BP DEL, 2456GdeletionPathogenic

Expression for genes affiliated with Ellis-Van Creveld Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ellis-Van Creveld Syndrome

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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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17Gene Ontology
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Cellular components related to Ellis-Van Creveld Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliary membraneGO:0601709.8EVC, EVC2
2motile ciliumGO:0315149.4WDR19, MKKS
3ciliary basal bodyGO:0360649.3EVC, WDR35
4ciliumGO:0059299.3EVC2, EVC, TTC21B
5intraciliary transport particle AGO:0309919.0WDR35, WDR19, TTC21B
6cytoskeletonGO:0058568.9EVC2, WDR19, TTC21B

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

idNameGO IDScoreTop Affiliating Genes
1cartilage developmentGO:0512169.7EVC, MKKS
2cilium morphogenesisGO:0602719.2TTC21B, MKKS
3smoothened signaling pathwayGO:0072249.2EVC2, EVC, TTC21B
4cilium assemblyGO:0423848.9MKKS, WDR19, WDR35

Products for genes affiliated with Ellis-Van Creveld Syndrome

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Sources for Ellis-Van Creveld Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet