MCID: PLY006
MIFTS: 55

Polydactyly malady

Summaries for Polydactyly

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 skin, liver and tongue, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Description from OMIM:47 174200,174700,603596,174500

Aliases & Classifications for Polydactyly

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 27ICD9CM, 35MeSH
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Aliases & Descriptions:

polydactyly 8 43 10 45
polydactyly, postaxial 45 61
polydactyly postaxial 43
postaxial polydactyly 8
supernumerary digits 43
polydactylism 43
extra digits 43
hyperdactyly 43
polydactylia 43


Related Diseases for Polydactyly

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Polydactyly family:

central polydactyly of toes central polydactyly of toes, bilateral
central polydactyly of toes, unilateral

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

(show top 50)    (show all 380)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.6LMBR1, GLI3
2bardet-biedl syndrome30.5BBS4, BBS10, BBS7, BBS5, BBS2, LZTFL1
3polydactyly, postaxial, types a1 and b30.3GLI3, ACLS
4acrocallosal syndrome30.3ACLS, GLI3
5polydactyly preaxial type 430.3GLI3, ACLS
6greig cephalopolysyndactyly syndrome30.3ACLS, GLI3
7pallister-hall syndrome30.2ACLS, GLI3, SHH
8asphyxiating thoracic dystrophy30.2NEK1, DYNC2H1
9mental retardation30.2SHH
10holoprosencephaly30.1SHH, GLI2, GLI3
11joubert syndrome29.8INPP5E
12vacterl association29.8SHH, GLI2
13short syndrome10.7
14n syndrome10.5
15beemer-langer syndrome10.5
16saldino-noonan syndrome10.4
17short rib-polydactyly syndrome type 310.4
18triphalangeal thumb10.4
19short rib-polydactyly syndrome type 210.4
20tibia absent polydactyly arachnoid cyst10.3
21mckusick-kaufman syndrome10.3
22megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.3
23mirror-image polydactyly10.3
24postaxial polydactyly type a10.3
25megalencephaly10.3
26polymicrogyria10.2
27polydactyly myopia syndrome10.2
28syndactyly-polydactyly-earlobe syndrome10.2
29short rib-polydactyly syndrome, type iia10.2
30imperforate anus10.2
31meckel syndrome10.2
32preaxial deficiency, postaxial polydactyly and hypospadias10.2
33scalp defects postaxial polydactyly10.2
34polydactyly, preaxial type ii10.2
35dandy-walker malformation with postaxial polydactyly10.2
36kid syndrome10.2
37persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly10.2
38noonan syndrome10.2
39absence of tibia with polydactyly10.2
40ectrodactyly polydactyly10.2
41hirschsprung disease polydactyly heart disease10.2
42postaxial polydactyly mental retardation10.2
43dextrocardia10.2
44situs inversus10.1
45ectodermal dysplasia alopecia preaxial polydactyly10.1
46santos mateus leal syndrome10.1
47polydactyly preaxial type 110.1
48renal dysplasia10.1
49smith-lemli-opitz syndrome10.1
50brachydactyly10.1

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to polydactyly

Clinical Features for Polydactyly

Sources:
47OMIM
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Clinical features from OMIM:

174200,174700,603596,174500

Drugs & Therapeutics for Polydactyly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Polydactyly

Sources:
33MalaCards
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MalaCards organs/tissues related to Polydactyly:

33
Skin, Liver, Tongue, Brain, Kidney, Lung, Thymus, Heart, Colon, T cells, B cells, Fetal brain, Occipital lobe, Fetal liver, Fetal lung, Pituitary

Animal Models for Polydactyly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Polydactyly

Sources:
51PubMed
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Articles related to Polydactyly:

(show top 50)    (show all 566)
idTitleAuthorsYear
1
Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes. (24038848)
2013
2
Ulnar Polydactyly: Long-Term Outcomes and Cost-Effectiveness of Surgical Clip Application in the Newborn. (24345998)
2013
3
Diagnosis of bardet-biedl syndrome in consecutive pregnancies affected with echogenic kidneys and polydactyly in a consanguineous couple. (23533844)
2013
4
Re: Andrade NN, Raikwar K. Congenital benign teratoma of the tongue with bifid tip, ankyloglossia and polydactyly: report of case. (22036031)
2012
5
A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb. (22495965)
2012
6
A new skill for treating unclassified thumb polydactyly: ablation via a periosteal incision. (22476516)
2012
7
Polydactyly in a young boy: a cause of teasing and local tribal suspicion. (21682174)
2011
8
A new surgical technique for lateral ray polydactyly without skin graft: the bell-bottom flap. (20195104)
2010
9
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). (20607029)
2010
10
Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes. (19519794)
2009
11
Postaxial polydactyly. (20387358)
2009
12
Polydactyly in mice lacking HDAC9/HDRP. (18480421)
2008
13
Holoprosencephaly-Polydactyly syndrome: in search of an etiology. (18178536)
2008
14
Polydactyly and hypertension. (18948777)
2008
15
Klippel-Trenaunay syndrome associated with polydactyly. (16258967)
2006
16
Reconstruction of radial polydactyly. (17159486)
2006
17
A new surgical method for treating lateral ray polydactyly with brachydactyly of the foot: lengthening the reconstructed fifth toe. (16782573)
2006
18
Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. (16619378)
2006
19
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. (16440883)
2005
20
Foot polydactyly and polysyndactyly: genetic implications in two families. (16257679)
2005
21
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
22
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes. (15368503)
2004
23
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. (12921311)
2003
24
Short rib polydactyly syndrome type III: histopathogenesis of the skeletal phenotype. (11815874)
2002
25
Pre-axial polydactyly: outcome of the surgical treatment. (11866087)
2002
26
Liver fibrocystic disease and polydactyly: proposal of a new syndrome. (11343330)
2001
27
Polydactyly of the feet in children: suggestions for surgical management. (11121315)
2001
28
Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice. (11668396)
2001
29
Dach: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homolog. (11543628)
2001
30
Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder. (10710229)
2000
31
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs. (10594882)
1999
32
Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly. (10528246)
1999
33
Surgical correction of polydactyly in a camel (Camelus dromedarius). (10484151)
1999
34
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. (9339355)
1997
35
Polydactyly and partial blindness. (9519197)
1997
36
Hypothalamic hamartoma with gelastic epilepsy, precocious puberty and polydactyly. (8993186)
1996
37
Severe congenital limb deficiencies, vertebral hypersegmentation, absent thymus and mirror polydactyly: a defect expression of a developmental control gene? (8566956)
1996
38
Long-term results of surgical treatment of thumb polydactyly. (8724483)
1996
39
Genetic aspects of polydactyly. (8792145)
1996
40
Neuro-glial neurotrophic interaction in the S-100 beta retarded mutant mouse (Polydactyly Nagoya). III. Transplantation study. (8949922)
1996
41
Holt-Oram syndrome with associated postaxial and central polydactyly. Further evidence for genetic heterogeneity in the Holt-Oram syndrome. (8985738)
1996
42
Radial polydactyly: an outcome study. (7574294)
1995
43
Short rib polydactyly syndrome--a rare skeletal dysplasia. (8543114)
1995
44
Apert syndrome with partial post-axial polydactyly and unilateral choanal atresia. (7890361)
1994
45
Rudimentary polydactyly. (8157824)
1994
46
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
47
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. (3950937)
1986
48
Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome. (4064363)
1985
49
Syndrome of tibial hypoplasia with polydactyly-syndactyly in two generations. (6298813)
1982
50
Short rib-polydactyly syndrome, type Verma-Naumoff. (6453061)
1981

Genetic Variations for Polydactyly

Expression for genes affiliated with Polydactyly

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

Search GEO for disease gene expression data for Polydactyly.

Pathways for genes affiliated with Polydactyly

Sources:
30KEGG, 38NCBI BioSystems Database, 60Tocris 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

GO Terms for genes affiliated with Polydactyly

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet