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:000538210.8TTC8, BBS4, BBS7, DYNC2H1, NEK1, SHH
2MP:000537110.8BBS7, BBS2, DYNC2H1, SHH, GLI2, GLI3
3MP:000539110.8BBS4, BBS7, BBS2, DYNC2H1, SHH, GLI2
4MP:000539410.8BBS4, BBS2, SHH, GLI3, TTC8
5MP:000536710.7BBS4, BBS2, DYNC2H1, NEK1, SHH, GLI3
6MP:000538110.7BBS4, BBS7, BBS2, DYNC2H1, SHH, GLI2
7MP:000363110.7BBS4, BBS7, BBS2, DYNC2H1, NEK1, SHH
8MP:000539010.6DYNC2H1, NEK1, SHH, GLI2, GLI3, INPP5E
9MP:001076810.6BBS7, DYNC2H1, NEK1, SHH, GLI2, GLI3
10MP:000538010.6BBS4, BBS7, DYNC2H1, SHH, GLI2, GLI3
11MP:000538810.5BBS4, DYNC2H1, SHH, GLI2, GLI3, TTC8
12MP:000537810.3BBS4, BBS2, NEK1, SHH, GLI2, GLI3

Publications for Polydactyly

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50PubMed
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Articles related to Polydactyly:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region. (23639964)
2013
2
Type A ulnar polydactyly of the hand: a classification system and clinical series. (23428187)
2013
3
Polydactyly: phenotypes, genetics and classification. (24020795)
2013
4
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. (23456818)
2013
5
Polydactyly 24 in a female neonate. (24083042)
2013
6
Recurrent short rib polydactyly syndrome. (23259870)
2013
7
Effects of electromagnetic pulse on polydactyly of mouse fetuses. (23623167)
2013
8
Toe component excision in postaxial polydactyly of the foot. (23449660)
2013
9
A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. (22786669)
2012
10
An unusual case of fibular (postaxial) polydactyly: extrametatarsal head with fused duplication of the proximal phalanx. (22297105)
2012
11
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. (21473986)
2011
12
Understanding the molecular basis of polydactyly. (20954615)
2010
13
Thumb polydactyly with symphalangism in young children. (19592603)
2009
14
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. (18478223)
2008
15
Crossed polydactyly prenatally diagnosed by 2- and 3-dimensional sonography. (17384052)
2007
16
Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly. (15637698)
2005
17
Invited discussion: the true triplication of the thumb: a case of unclassified thumb polydactyly. (16106176)
2005
18
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. (15057119)
2004
19
Atrioventricular septal defect associated with type A postaxial polydactyly. (15691417)
2004
20
Developmental mechanisms underlying polydactyly in the mouse mutant Doublefoot. (12587916)
2003
21
Sporadic familial polydactyly. (14738113)
2003
22
Genetical and epidemiological studies of polydactyly in Hungary. (14717534)
2003
23
'Fishing' out a long distance regulator of the sonic hedgehog gene associated with preaxial polydactyly. (14578456)
2003
24
P2 Developmental mechanisms underlying polydactyly in the mouse mutant, Doublefoot. (17103775)
2002
25
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. (11954550)
2002
26
Polydactyly of the foot. Literature review and case presentations. (12415940)
2002
27
Diagnostic dilemmas in the short rib-polydactyly syndrome group. (12210298)
2002
28
Nail dystrophy in association with polydactyly and benign familial hypercalcemia. (11260193)
2001
29
Short-rib polydactyly syndrome type III (Verma-Naumoff) in a third-trimester fetus with unusual associations of epiglottic hypoplasia, renal cystic dysplasia, pyelectasia and oligohydramnios. (11746172)
2001
30
Polydactyly in 22q11 syndrome: should it be taken into account? (10945670)
2000
31
Crossed polydactyly. (10734344)
1999
32
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. (9610623)
1998
33
Complete digital duplication: a case report and review of ulnar polydactyly. (9464703)
1998
34
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. (9600232)
1998
35
Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome? (9823494)
1998
36
Lateral ray polydactyly: a case of duplicated metatarsal with normal phalanges. (9229102)
1997
37
Polydactyly and fetal hydantoin syndrome: an additional component of the syndrome? (9212184)
1997
38
Dandy-Walker malformation and postaxial polydactyly: nosological comments. (9112009)
1997
39
Subclassification of polydactyly. (8733358)
1996
40
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly. (8010349)
1994
41
Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome. (8488883)
1993
42
Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: severe expression of the acrocallosal syndrome? (8357003)
1993
43
Teratogenic relationship between polydactyly, syndactyly and cleft hand. (2164076)
1990
44
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? (6627724)
1983
45
Median cleft lip, polydactyly, syndactyly and toe anomalies in a non-Indian infant. (6313104)
1983
46
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly--a new syndrome? Part II: Neuropathological considerations. (7211954)
1980
47
Short rib-polydactyly syndrome, Majewski type, in two male siblings. (478536)
1979
48
A syndrome of polydactyly-syndactyly and triphalangeal thumbs in three generations. (4372010)
1974
49
Imperforate anus (polydactyly) vertebral anomalies syndrome: a hereditary trait? (5125402)
1971
50
The polydactyly--imperforate-anus--vertebral-anomalies syndrome. (4178271)
1969

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
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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
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