MCID: ELL001
MIFTS: 61

Ellis-Van Creveld Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Respiratory diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Ellis-Van Creveld Syndrome

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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 based summary: Ellis-Van Creveld Syndrome, also known as chondroectodermal dysplasia, is related to polydactyly and dysostosis, and has symptoms including anomalies of tongue, gingiva and oral mucosa, anomalies of teeth and dentition and narrow rib cage/thorax. An important gene associated with Ellis-Van Creveld Syndrome is EVC2 (Ellis van Creveld syndrome 2). Affiliated tissues include bone, heart and kidney, and related mouse phenotypes are mortality/aging and craniofacial.

Wikipedia:65 Ellis?van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see... 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, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 22GTR, 48Orphanet, 27ICD9CM, 39NCIt, 34MeSH, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Ellis-Van Creveld Syndrome, Aliases & Descriptions:

Name: Ellis-Van Creveld Syndrome 8 9 42 20 21 46 10 44 62
Chondroectodermal Dysplasia 8 42 22 21 48 62
Ellis-Van Creveld Dysplasia 21 62
 
Ellis Van Creveld Syndrome 48
Mesoectodermal Dysplasia 42
Mesodermic Dysplasia 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:12714
ICD9CM27 756.55
NCIt39 C84684
MeSH34 D004613
SNOMED-CT57 62501005
OMIM46 225500
MESH via Orphanet35 D004613
ICD10 via Orphanet26 Q77.6
UMLS via Orphanet63 C0013903

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/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly31.5EVC2, EVC
2dysostosis31.1EVC2, EVC
3congenital heart disease30.6EVC, MKKS
4asphyxiating thoracic dystrophy29.9TTC21B, 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
12hepatitis10.4
13facial hemiatrophy10.4
14situs inversus10.4
15beemer-langer syndrome10.4
16nephronophthisis10.4
17autosomal recessive disease10.4
18esotropia10.4
19nephrotic syndrome10.4
20pancreatitis10.4
21weyers acrofacial dysostosis10.4
22renal-hepatic-pancreatic dysplasia10.4
23short-rib thoracic dysplasia 7 with or without polydactyly10.4
24short-rib thoracic dysplasia 10 with or without polydactyly10.4
25short-rib thoracic dysplasia 4 with or without polydactyly10.4
26short-rib thoracic dysplasia 2 with or without polydactyly10.4
27short-rib thoracic dysplasia 5 with or without polydactyly10.4
28short-rib thoracic dysplasia 6 with or without polydactyly10.4
29short-rib thoracic dysplasia 8 with or without polydactyly10.4
30short-rib thoracic dysplasia 11 with or without polydactyly10.4
31short-rib thoracic dysplasia 3 with or without polydactyly10.4
32short-rib thoracic dysplasia 9 with or without polydactyly10.4
33bardet-biedl syndrome 610.3MKKS
34focal dermal hypoplasia10.2
35cleft palate10.1
36hypotrichosis10.1
37strabismus10.1
38bardet-biedl syndrome9.7WDR19, TTC21B, MKKS
39cranioectodermal dysplasia 19.4TTC21B, 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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Symptoms by clinical synopsis from OMIM:

225500

Clinical features from OMIM:

225500

Symptoms:

48 (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 61)
id Description Frequency HPO Source Accession
1 narrow chest hallmark (90%) HP:0000774
2 hand polydactyly hallmark (90%) HP:0001161
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 defect in the atrial septum hallmark (90%) HP:0001631
5 abnormality of the heart valves hallmark (90%) HP:0001654
6 complete atrioventricular canal defect hallmark (90%) HP:0001674
7 hypoplastic toenails hallmark (90%) HP:0001800
8 foot polydactyly hallmark (90%) HP:0001829
9 genu valgum hallmark (90%) HP:0002857
10 short stature hallmark (90%) HP:0004322
11 limb undergrowth hallmark (90%) HP:0009826
12 short distal phalanx of finger hallmark (90%) HP:0009882
13 short thorax hallmark (90%) HP:0010306
14 cryptorchidism typical (50%) HP:0000028
15 strabismus typical (50%) HP:0000486
16 microdontia typical (50%) HP:0000691
17 intrauterine growth retardation typical (50%) HP:0001511
18 ventricular septal defect typical (50%) HP:0001629
19 situs inversus totalis typical (50%) HP:0001696
20 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
21 aplasia/hypoplasia of the lungs typical (50%) HP:0006703
22 reduced number of teeth typical (50%) HP:0009804
23 displacement of the external urethral meatus typical (50%) HP:0100627
24 abnormality of female internal genitalia occasional (7.5%) HP:0000008
25 thin vermilion border occasional (7.5%) HP:0000233
26 delayed eruption of teeth occasional (7.5%) HP:0000684
27 emphysema occasional (7.5%) HP:0002097
28 acute leukemia occasional (7.5%) HP:0002488
29 delayed skeletal maturation occasional (7.5%) HP:0002750
30 cubitus valgus occasional (7.5%) HP:0002967
31 synostosis of carpal bones occasional (7.5%) HP:0005048
32 abnormality of bone marrow cell morphology occasional (7.5%) HP:0005561
33 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
34 abnormal hair quantity occasional (7.5%) HP:0011362
35 cognitive impairment occasional (7.5%) HP:0100543
36 autosomal recessive inheritance HP:0000007
37 cryptorchidism HP:0000028
38 epispadias HP:0000039
39 hypospadias HP:0000047
40 cleft upper lip HP:0000204
41 hypodontia HP:0000668
42 delayed eruption of teeth HP:0000684
43 natal tooth HP:0000695
44 pectus carinatum HP:0000768
45 short ribs HP:0000773
46 narrow chest HP:0000774
47 postaxial hand polydactyly HP:0001162
48 capitate-hamate fusion HP:0001241
49 intellectual disability HP:0001249
50 dandy-walker malformation HP:0001305
51 defect in the atrial septum HP:0001631
52 talipes equinovarus HP:0001762
53 postaxial foot polydactyly HP:0001830
54 nail dysplasia HP:0002164
55 abnormality of pelvic girdle bone morphology HP:0002644
56 genu valgum HP:0002857
57 short long bones HP:0003026
58 cone-shaped epiphyses of phalanges 2 to 5 HP:0006035
59 abnormality of the alveolar ridges HP:0006477
60 disproportionate short-limb short stature HP:0008873
61 neonatal short-limb short stature HP:0008921

Drugs & Therapeutics for Ellis-Van Creveld Syndrome

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Drug clinical trials:

Search ClinicalTrials for Ellis-Van Creveld Syndrome

Search NIH Clinical Center for 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 Syndrome20 EVC2
2 Chondroectodermal Dysplasia22

Anatomical Context for Ellis-Van Creveld Syndrome

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

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

Animal Models for Ellis-Van Creveld Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Ellis-Van Creveld Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.3EVC2, EVC, WDR35, WDR19, MKKS
2MP:00053828.1MKKS, TTC21B, WDR19, EVC, EVC2
3MP:00053907.9EVC2, EVC, WDR35, WDR19, TTC21B
4MP:00053717.7MKKS, EVC2, EVC, WDR35, WDR19, TTC21B

Publications for Ellis-Van Creveld Syndrome

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Articles related to Ellis-Van Creveld Syndrome:

(show top 50)    (show all 175)
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
Ellis-van Creveld syndrome. An inbred kindred with five cases. (887831)
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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UniProtKB/Swiss-Prot genetic disease variations for Ellis-Van Creveld Syndrome:

64
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:

6 (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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet