MCID: PLY006
MIFTS: 56

Polydactyly malady

Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Polydactyly

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Polydactyly or polydactylism (from Greek ????? (polys), meaning \"many\", and ???????? (daktylos),... 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 Signaling events mediated by the Hedgehog family and Development Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include heart, kidney and tongue, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

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

Aliases & Classifications for Polydactyly

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 62UMLS, 47OMIM, 58SNOMED-CT, 27ICD9CM, 40NCIt, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Aliases & Descriptions:

polydactyly 8 43 10 45
polydactyly, postaxial 45 62
polydactyly postaxial 43
postaxial polydactyly 8
supernumerary digits 43
polydactylism 43
extra digits 43
hyperdactyly 43
polydactylia 43


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 390)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly30.7GLI3, LMBR1
2bardet-biedl syndrome30.5BBS2, BBS4, TTC8
3greig cephalopolysyndactyly syndrome30.5GLI3
4pallister-hall syndrome30.3GLI3, SHH
5holoprosencephaly30.2GLI2, GLI3, SHH
6cleft lip30.1SHH, GLI2
7vacterl association29.9SHH, GLI2
8single median maxillary central incisor29.8SHH
9synostosis29.7GLI3, SHH
10obesity29.7BBS2, BBS4, TTC8
11short rib-polydactyly syndrome10.7
12beemer-langer syndrome10.5
13short rib-polydactyly syndrome type 210.4
14short rib-polydactyly syndrome type 310.4
15triphalangeal thumb10.4
16tibia absent polydactyly arachnoid cyst10.3
17saldino-noonan syndrome10.3
18postaxial polydactyly type a10.3
19polydactyly, postaxial, types a1 and b10.3
20mirror-image polydactyly10.3
21dandy-walker malformation with postaxial polydactyly10.3
22megalencephaly10.3
23hydrocephalus10.3
24mckusick-kaufman syndrome10.3
25polymicrogyria10.3
26polydactyly myopia syndrome10.3
27preaxial deficiency, postaxial polydactyly and hypospadias10.3
28syndactyly-polydactyly-earlobe syndrome10.3
29polydactyly, preaxial type ii10.3
30acrocallosal syndrome10.3
31imperforate anus10.3
32ellis-van creveld syndrome10.3
33polydactyly preaxial type 410.3
34scalp defects postaxial polydactyly10.3
35short-rib thoracic dysplasia 11 with or without polydactyly10.3
36persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly10.2
37megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome10.2
38meckel syndrome10.2
39absence of tibia with polydactyly10.2
40brachyphalangy, polydactyly, and tibial aplasia/hypoplasia10.2
41ectrodactyly polydactyly10.2
42hirschsprung disease polydactyly heart disease10.2
43short-rib thoracic dysplasia 2 with or without polydactyly10.2
44short-rib thoracic dysplasia 6 with or without polydactyly10.2
45short-rib thoracic dysplasia 3 with or without polydactyly10.2
46dextrocardia10.2
47situs inversus10.2
48ectodermal dysplasia alopecia preaxial polydactyly10.2
49polydactyly preaxial type 110.2
50santos mateus leal syndrome10.2

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to polydactyly

Symptoms for Polydactyly

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47OMIM
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Clinical features from OMIM:

174500,174700,603596,174200

Drugs & Therapeutics for Polydactyly

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Polydactyly

Search NIH Clinical Center for Polydactyly

Genetic Tests for Polydactyly

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Anatomical Context for Polydactyly

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33MalaCards
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MalaCards organs/tissues related to Polydactyly:

33
Heart, Kidney, Tongue, Brain, Bone, Skin, Pituitary, Lung, Thymus, Liver, Colon

Animal Models for Polydactyly or affiliated genes

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37MGI
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Publications for Polydactyly

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52PubMed
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Articles related to Polydactyly:

(show top 50)    (show all 555)
idTitleAuthorsYear
1
Treatment of postaxial polydactyly type B. (23540414)
2013
2
Correction of postaxial metatarsal polydactyly of the foot by percutaneous ray amputation and osteotomy. (23063205)
2013
3
Congenital polydactyly and polymetatarsalia: classification, genetics, and surgical correction. 1981. (21513870)
2011
4
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. (21159031)
2011
5
Understanding the molecular basis of polydactyly. (20954615)
2010
6
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (19361615)
2009
7
Two rare cases of association of thumb hypoplasia and polydactyly of the homolateral foot. (19129363)
2009
8
Polydactyly in mice lacking HDAC9/HDRP. (18480421)
2008
9
Crossed polydactyly prenatally diagnosed by 2- and 3-dimensional sonography. (17384052)
2007
10
Preaxial polydactyly in neurofibromatosis 1. (17551336)
2007
11
Polydactyly of the foot. (17414786)
2007
12
Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities. (16650085)
2006
13
Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia. (15906413)
2005
14
Experience with the surgical treatment of radial polydactyly in adults. (16186699)
2005
15
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
16
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
17
A female with complete lack of MA1llerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? (15266619)
2004
18
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. (15057119)
2004
19
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. (12921311)
2003
20
Polydactyly: how many disorders and how many genes? (12357471)
2002
21
P2 Developmental mechanisms underlying polydactyly in the mouse mutant, Doublefoot. (17103775)
2002
22
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
23
Liver fibrocystic disease and polydactyly: proposal of a new syndrome. (11343330)
2001
24
Familial torticollis with polydactyly: manifestation in three generations. (11520023)
2001
25
Distribution of polarizing activity and potential for limb formation in mouse and chick embryos and possible relationships to polydactyly. (10952899)
2000
26
Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. (10969736)
2000
27
Polydactyly reported by Raphael. (11124206)
2000
28
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36. (9950363)
1999
29
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs. (10594882)
1999
30
Polydactyly and functional psychosis. (10645344)
1999
31
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. (9610623)
1998
32
Associated anomalies in individuals with polydactyly. (9880209)
1998
33
Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation. (9854733)
1998
34
Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. (9671585)
1998
35
Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos. (9565227)
1998
36
Hand and foot postaxial polydactyly: two different traits. (9375922)
1997
37
The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes. (8986290)
1997
38
Subclassification of polydactyly. (8733358)
1996
39
A new surgical technique for postaxial polydactyly of the foot. (8532771)
1996
40
The zig-zag deformity in pre-axial polydactyly. A new cause and its treatment. (7595006)
1995
41
On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920. (8521156)
1995
42
Beemer-Langer type short rib-polydactyly syndrome: report of two cases. (8085456)
1994
43
A combination surgical method for preaxial polydactyly of the foot. (8239438)
1993
44
Polydactyly of the thumb. (8436855)
1993
45
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
46
Harlequin fetus with polydactyly and renal dysplasia. (2279815)
1990
47
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
48
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. (3130854)
1987
49
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. (3950937)
1986
50
A 63-mm human fetus with radial aplasia, tibial polydactyly, rib and vertebral fusions, and right aortic arch. (4428420)
1974

Variations for Polydactyly

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Expression for genes affiliated with Polydactyly

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 61Tocris Bioscience
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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
1motile primary ciliumGO:0315129.6GLI2, DYNC2H1
2motile ciliumGO:0315149.0BBS4, BBS2
3ciliumGO:0059298.8GLI3, WDR60, TTC8
4BBSomeGO:0344648.6BBS4, BBS2, TTC8
5ciliary membraneGO:0601708.6BBS4, BBS2, TTC8
6ciliary basal bodyGO:0360648.5TTC8, BBS2, BBS4

Biological processes related to Polydactyly according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of alpha-beta T cell differentiationGO:04663910.2SHH, GLI3
2artery developmentGO:06084010.2GLI3, SHH
3positive regulation of alpha-beta T cell differentiationGO:04663810.2SHH, GLI3
4smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.2GLI3, GLI2
5smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.2GLI3, GLI2
6negative thymic T cell selectionGO:04506010.1SHH, GLI3
7smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:06083110.1GLI2, GLI3
8positive regulation of protein import into nucleusGO:04230710.1GLI3, SHH
9positive regulation of neuroblast proliferationGO:00205210.1GLI3, SHH
10embryonic digestive tract developmentGO:04856610.1GLI2, GLI3
11embryonic digestive tract morphogenesisGO:04855710.1GLI3, SHH
12protein processingGO:01648510.1DYNC2H1, GLI3
13spinal cord motor neuron differentiationGO:02152210.0DYNC2H1, SHH
14ventral midline developmentGO:00741810.0SHH, GLI2
15smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.0SHH, GLI2
16spinal cord dorsal/ventral patterningGO:02151310.0GLI2, SHH
17proximal/distal pattern formationGO:00995410.0GLI2, GLI3
18positive regulation of T cell differentiation in thymusGO:03308910.0GLI2, SHH
19metanephros developmentGO:00165610.0GLI3, SHH
20developmental growthGO:04858910.0GLI3, GLI2
21hindbrain developmentGO:0309029.9SHH, GLI2
22osteoblast developmentGO:0020769.9SHH, GLI2
23T cell differentiation in thymusGO:0330779.9SHH, GLI3
24branching morphogenesis of an epithelial tubeGO:0487549.9SHH, GLI2
25dorsal/ventral pattern formationGO:0099539.8DYNC2H1, SHH
26branching involved in ureteric bud morphogenesisGO:0016589.8GLI3, SHH
27hindgut morphogenesisGO:0074429.8GLI2, GLI3, SHH
28smoothened signaling pathwayGO:0072249.8SHH, GLI3, GLI2
29odontogenesis of dentin-containing toothGO:0424759.7SHH, GLI3, GLI2
30lung developmentGO:0303249.7GLI2, GLI3, SHH
31heart developmentGO:0075079.7SHH, GLI3, GLI2
32embryonic limb morphogenesisGO:0303269.6DYNC2H1, SHH
33sensory processingGO:0508939.6BBS4, TTC8
34negative regulation of appetite by leptin-mediated signaling pathwayGO:0381089.5BBS2, BBS4
35regulation of cilium beat frequency involved in ciliary motilityGO:0602969.5BBS2, BBS4
36nonmotile primary cilium assemblyGO:0350589.4BBS2, BBS4
37striatum developmentGO:0217569.4BBS2, BBS4
38protein localization to organelleGO:0333659.4BBS4, BBS2
39brain morphogenesisGO:0488549.4BBS4, BBS2
40embryonic digit morphogenesisGO:0427339.4SHH, LMBR1, GLI3, GLI2
41melanosome transportGO:0324029.4BBS2, BBS4
42adult behaviorGO:0305349.3BBS2, BBS4
43photoreceptor cell maintenanceGO:0454949.3BBS4, BBS2
44positive regulation of multicellular organism growthGO:0400189.2BBS2, BBS4
45axon guidanceGO:0074119.2SHH, TTC8, GLI3, GLI2
46cilium assemblyGO:0423849.2TTC8, BBS4, DYNC2H1
47hippocampus developmentGO:0217669.1BBS4, BBS2
48cerebral cortex developmentGO:0219879.0BBS2, BBS4
49fat cell differentiationGO:0454449.0TTC8, BBS2, BBS4
50cilium morphogenesisGO:0602718.7BBS4, BBS2

Molecular functions related to Polydactyly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:0037779.3DYNC2H1, BBS4
2RNA polymerase II repressing transcription factor bindingGO:0011038.2BBS4, BBS2, TTC8

Products for genes affiliated with Polydactyly

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Sources for Polydactyly

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet