MCID: PLY006
MIFTS: 54

Polydactyly malady

Summaries for Polydactyly

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Polydactyly or polydactylism (from Greek πολύς (polys), meaning \"many\", and δάκτυλος... more...

MalaCards: Polydactyly, also known as polydactyly, postaxial, is related to syndactyly and bardet-biedl syndrome. An important gene associated with Polydactyly is GLI3 (GLI family zinc finger 3), and among its related pathways are Basal cell carcinoma and Hedgehog signaling events mediated by Gli proteins. Affiliated tissues include heart, kidney and tongue, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Description from OMIM:46 174200,174700,603596,174500

Aliases & Classifications for Polydactyly

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 27ICD9CM, 34MeSH
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Aliases & Descriptions:

polydactyly 8 42 10 44
polydactyly, postaxial 44 60
polydactyly postaxial 42
postaxial polydactyly 8
supernumerary digits 42
polydactylism 42
extra digits 42
hyperdactyly 42
polydactylia 42


Related Diseases for Polydactyly

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17GeneCards, 18GeneDecks
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Diseases in the Polydactyly family:

Central Polydactyly of Toes

Diseases related to Polydactyly via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 339)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.6LMBR1, GLI3
2bardet-biedl syndrome30.5BBS7, BBS2, LZTFL1, BBS10, BBS4, TTC8
3polydactyly, postaxial, types a1 and b30.4GLI3, ACLS
4acrocallosal syndrome30.3GLI3, ACLS
5polydactyly preaxial type 430.3GLI3, ACLS
6greig cephalopolysyndactyly syndrome30.3GLI3, ACLS
7pallister-hall syndrome30.2SHH, GLI3, ACLS
8asphyxiating thoracic dystrophy30.2NEK1, DYNC2H1
9holoprosencephaly30.1GLI2, GLI3, SHH
10joubert syndrome29.8INPP5E
11vacterl association29.8SHH, GLI2
12obesity29.8BBS2, TTC8, BBS4
13beemer-langer syndrome10.5
14saldino-noonan syndrome10.4
15short rib-polydactyly syndrome type 210.4
16short rib-polydactyly syndrome type 310.3
17ellis-van creveld syndrome10.3
18tibia absent polydactyly arachnoid cyst10.3
19mckusick-kaufman syndrome10.3
20hydrocephalus10.2
21polymicrogyria10.2
22polydactyly myopia syndrome10.2
23syndactyly-polydactyly-earlobe syndrome10.2
24asphyxiating thoracic dystrophy 310.2
25polydactyly, preaxial type ii10.2
26imperforate anus10.2
27meckel syndrome10.2
28preaxial deficiency, postaxial polydactyly and hypospadias10.2
29scalp defects postaxial polydactyly10.2
30dandy-walker malformation with postaxial polydactyly10.2
31persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly10.2
32noonan syndrome10.2
33absence of tibia with polydactyly10.2
34ectrodactyly polydactyly10.2
35hirschsprung disease polydactyly heart disease10.2
36short rib-polydactyly syndrome, type v10.2
37short rib-polydactyly syndrome, type iia10.2
38dextrocardia10.1
39situs inversus10.1
40ectodermal dysplasia alopecia preaxial polydactyly10.1
41santos mateus leal syndrome10.1
42polydactyly preaxial type 110.1
43megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.1
44smith-lemli-opitz syndrome10.1
45brachydactyly10.1
46hydrolethalus syndrome10.1
47brachyphalangy, polydactyly, and tibial aplasia/hypoplasia10.1
48chondrodysplasia situs inversus imperforate anus polydactyly10.1
49daneman davy mancer syndrome10.1
50hypoplasia of the tibia with polydactyly10.1

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to polydactyly

Clinical Features for Polydactyly

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46OMIM
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Clinical features from OMIM:

174200,174700,603596,174500

Drugs & Therapeutics for Polydactyly

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

Search CenterWatch for Polydactyly

Drug clinical trials:

Search ClinicalTrials for Polydactyly

Search NIH Clinical Center for Polydactyly

Search CenterWatch for Polydactyly

Genetic Tests for Polydactyly

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Anatomical Context for Polydactyly

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32MalaCards
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MalaCards organs/tissues related to Polydactyly:

32
Heart, Kidney, Tongue, Brain, Bone, Skin, Pituitary, Colon, Liver, Lung, Thymus

Animal Models for Polydactyly or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Polydactyly:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.8GLI2, BBS4, BBS7, DYNC2H1, NEK1, SHH
2MP:000537110.8GLI2, LMBR1, GLI3, SHH, BBS7, BBS2
3MP:000539110.8TTC8, GLI2, BBS4, BBS7, GLI3, BBS2
4MP:000539410.8BBS2, SHH, GLI3, TTC8, BBS4
5MP:000536710.7SHH, BBS4, TTC8, INPP5E, GLI3, NEK1
6MP:000538110.7BBS7, DYNC2H1, INPP5E, GLI3, BBS2, BBS4
7MP:000363110.7BBS4, NEK1, SHH, BBS7, BBS2, DYNC2H1
8MP:000539010.6NEK1, GLI2, GLI3, INPP5E, LMBR1, SHH
9MP:001076810.6TTC8, INPP5E, GLI2, GLI3, DYNC2H1, SHH
10MP:000538010.6GLI3, INPP5E, SHH, DYNC2H1, BBS7, BBS4
11MP:000538810.5GLI2, SHH, BBS4, GLI3, TTC8, DYNC2H1
12MP:000537810.3BBS2, SHH, GLI2, BBS4, GLI3, INPP5E

Publications for Polydactyly

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50PubMed
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Articles related to Polydactyly:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
An unusual case of postaxial polydactyly of the foot treated by metatarsal transfer. (24370483)
2014
2
Correction of postaxial metatarsal polydactyly of the foot by percutaneous ray amputation and osteotomy. (23063205)
2013
3
The pathogenesis of ulnar polydactyly in humans. (23435486)
2013
4
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. (24092603)
2013
5
Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events. (23364674)
2013
6
Arthrography in thumb polydactyly with bifurcation at the interphalangeal or metacarpophalangeal joints provides practical information at surgery. (22733700)
2013
7
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. (24222286)
2013
8
A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. (22903933)
2012
9
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. (22499340)
2012
10
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. (21877132)
2012
11
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. (22510444)
2012
12
Intra-natal Torsion of Polydactyly. (21572686)
2011
13
Fetal polydactyly: a study of 24 cases ascertained by prenatal sonography. (21705736)
2011
14
Unique case of 11-fingered polydactyly with cleft hand. (20739235)
2011
15
Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of a case. (20579786)
2010
16
Polydactyly and genes. (20177829)
2010
17
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (19361615)
2009
18
Additional features in a new case of a girl presenting brachyphalangy, polydactyly and tibial aplasia/hypoplasia. (19533791)
2009
19
Multiple pterygium syndrome with horseshoe kidney and polydactyly: a further case. (19282756)
2009
20
Ulnar polydactyly with retrograde development and synostosis: case report. (19084192)
2008
21
Short rib polydactyly syndrome - type 2 (Majewski). (18057685)
2007
22
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. (17163542)
2007
23
Bilateral Polydactyly in a foal. (17519577)
2007
24
Thumb polydactyly with radius hypoplasia--a case report. (17145389)
2006
25
Short rib-polydactyly syndrome type I associated with a single umbilical artery. (15083709)
2004
26
Bilateral preaxial polydactyly: a possible dominant inheritant. (14504883)
2003
27
De novo germline PTEN mutation in a man with Lhermitte-Duclos disease which arose on the paternal chromosome and was transmitted to his child with polydactyly and Wormian bones. (12920084)
2003
28
Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder? (12494441)
2003
29
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly. (12837695)
2003
30
2 Preaxial polydactyly In human and mouse: regulatory anomalies in digit patterning. (17103745)
2002
31
An infant with polydactyly and renal anomalies: early diagnosis of a rare syndrome. (12454245)
2002
32
Brachyphalangy, feet polydactyly, absent/hypoplastic tibiae: a further case and review of main diagnostic findings. (11310988)
2001
33
Ulnar polydactyly. (11335816)
2001
34
Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. (10969736)
2000
35
Mapping the naked neck (NA) and polydactyly (PO) mutants of the chicken with microsatellite molecular markers. (14736408)
2000
36
The mouse mutation Pdn (Polydactyly Nagoya) is caused by the integration of a retrotransposon into the Gli3 gene. (10051311)
1999
37
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36. (10329000)
1999
38
Postaxial polydactyly and Dandy-Walker malformation. Further nosological comments. (10665667)
1999
39
Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. (9671585)
1998
40
The zig-zag deformity in pre-axial polydactyly. A new cause and its treatment. (7595006)
1995
41
Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome? (7726219)
1995
42
Polydactyly in a carrier of the gene for the Meckel syndrome. (7856653)
1994
43
Lethal short rib syndrome of the Beemer type without polydactyly. (8414768)
1993
44
Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome? (8456850)
1993
45
Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. (8368252)
1993
46
Anatomical study of preaxial polydactyly in 158 hands. (1304652)
1992
47
Short rib-polydactyly syndrome type I (Saldino-Noonan syndrome). (1802845)
1991
48
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. (3130854)
1987
49
Two cases of congenital hypothalamic hamartoblastoma, polydactyly, and other congenital anomalies (Pallister-Hall syndrome) (7057839)
1982
50
Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. (7468648)
1980

Genetic Variations for Polydactyly

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Expression for genes affiliated with Polydactyly

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Polydactyly

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Pathways for genes affiliated with Polydactyly

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29KEGG, 37NCBI BioSystems Database, 59Tocris Bioscience
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Pathways related to Polydactyly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.5GLI3, GLI2, SHH
210.5SHH, GLI2, GLI3
3
Hide members
10.5GLI3, GLI2, SHH
410.5GLI2, SHH

Compounds for genes affiliated with Polydactyly

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GO Terms for genes affiliated with Polydactyly

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16Gene Ontology
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Cellular components related to Polydactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:03446410.7TTC8, BBS2, BBS5, BBS7, BBS4
2cilium membraneGO:06017010.6BBS4, BBS7, BBS5, BBS2, TTC8
3microtubule basal bodyGO:00593210.6BBS4, BBS5, BBS2, TTC8
4centrosomeGO:00581310.5TTC8, NEK1, BBS7, BBS4
5motile primary ciliumGO:03151210.5GLI2, DYNC2H1
6ciliumGO:00592910.4BBS10, GLI3, TTC8
7pericentriolar materialGO:00024210.2NEK1, BBS4

Biological processes related to Polydactyly according to GeneCards/GeneDecks:

(show all 46)
idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:04273311.0SHH, GLI2, GLI3, LMBR1
2cilium assemblyGO:04238411.0BBS4, BBS5, DYNC2H1, NEK1, TTC8
3hindgut morphogenesisGO:00744211.0GLI3, GLI2, SHH
4smoothened signaling pathwayGO:00722411.0BBS7, SHH, GLI2, GLI3
5melanosome transportGO:03240211.0BBS2, BBS5, BBS7, BBS4
6heart loopingGO:00194710.9BBS4, BBS7, BBS5, SHH
7fat cell differentiationGO:04544410.9BBS4, BBS7, BBS2, TTC8
8visual perceptionGO:00760110.9BBS4, BBS10, BBS7, BBS5, BBS2
9photoreceptor cell maintenanceGO:04549410.9BBS2, BBS10, BBS4
10negative regulation of alpha-beta T cell differentiationGO:04663910.9SHH, GLI3
11sensory processingGO:05089310.9BBS4, TTC8
12smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.9GLI2, GLI3
13pigment granule aggregation in cell centerGO:05187710.9BBS4, BBS7
14smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.9GLI2, GLI3
15negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.9BBS4, BBS2
16ventral midline developmentGO:00741810.9SHH, GLI2
17cilium morphogenesisGO:06027110.9BBS4, BBS7, BBS2
18smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.9GLI2, SHH
19smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:06083110.9GLI2, GLI3
20odontogenesis of dentin-containing toothGO:04247510.9SHH, GLI2, GLI3
21regulation of cilium beat frequency involved in ciliary motilityGO:06029610.9BBS2, BBS4
22spinal cord dorsal/ventral patterningGO:02151310.9GLI2, SHH
23palate developmentGO:06002110.9GLI3, SHH, BBS7
24nonmotile primary cilium assemblyGO:03505810.9BBS10, BBS4
25artery developmentGO:06084010.9GLI3, SHH
26positive regulation of T cell differentiation in thymusGO:03308910.8SHH, GLI2
27lung developmentGO:03032410.8SHH, GLI2, GLI3
28positive regulation of alpha-beta T cell differentiationGO:04663810.8GLI3, SHH
29retina homeostasisGO:00189510.8BBS4, BBS10
30striatum developmentGO:02175610.8BBS2, BBS4
31negative thymic T cell selectionGO:04506010.8GLI3, SHH
32brain morphogenesisGO:04885410.8BBS4, BBS2
33positive regulation of protein import into nucleusGO:04230710.8SHH, GLI3
34axon guidanceGO:00741110.8SHH, GLI2, GLI3, TTC8
35protein localization to organelleGO:03336510.8BBS2, BBS4
36adult behaviorGO:03053410.8BBS2, BBS4
37spinal cord motor neuron differentiationGO:02152210.7SHH, DYNC2H1
38embryonic digestive tract developmentGO:04856610.7GLI3, GLI2
39hindbrain developmentGO:03090210.7SHH, GLI2
40positive regulation of neuroblast proliferationGO:00205210.7SHH, GLI3
41osteoblast developmentGO:00207610.6GLI2, SHH
42heart developmentGO:00750710.6GLI3, GLI2, SHH
43proximal/distal pattern formationGO:00995410.5GLI2, GLI3
44T cell differentiation in thymusGO:03307710.5GLI3, SHH
45developmental growthGO:04858910.4GLI3, GLI2
46branching morphogenesis of an epithelial tubeGO:04875410.2GLI2, SHH

Products for genes affiliated with Polydactyly

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Sources for Polydactyly

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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