MCID: PLY006
MIFTS: 48

Polydactyly malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Polydactyly

About this section

Aliases & Descriptions for Polydactyly:

Name: Polydactyly 8 42 10 44
Polydactyly, Postaxial 44 61
Polydactyly Postaxial 42
Postaxial Polydactyly 8
Supernumerary Digits 42
 
Polydactylism 42
Extra Digits 42
Hyperdactyly 42
Polydactylia 42


Classifications:



External Ids:

Disease Ontology8 DOID:1148
MeSH33 D017689
NCIt39 C87110
ICD9CM27 755.0, 755.00
ICD1025 Q69

Summaries for Polydactyly

About this section
Wikipedia:64 Polydactyly or polydactylism (from Greek ????? (polys), meaning \"many\", and ???????? (daktylos),... more...

MalaCards based summary: Polydactyly, also known as polydactyly, postaxial, is related to greig cephalopolysyndactyly syndrome and syndactyly. 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 bone, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

Related Diseases for Polydactyly

About this section

Diseases in the Polydactyly family:

Central Polydactyly of Toes

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

(show top 50)    (show all 447)
idRelated DiseaseScoreTop Affiliating Genes
1greig cephalopolysyndactyly syndrome31.3GLI3
2syndactyly31.0GLI3, LMBR1
3pallister-hall syndrome30.9GLI3, SHH
4holoprosencephaly30.5GLI2, GLI3, SHH
5vacterl association30.4SHH, GLI2
6cleft lip30.2SHH, GLI2
7bardet-biedl syndrome30.2BBS2, BBS4, TTC8
8synostosis30.0GLI3, SHH
9obesity29.1BBS2, BBS4, TTC8
10short-rib thoracic dysplasia 3 with or without polydactyly10.6
11short-rib thoracic dysplasia 6 with or without polydactyly10.5
12tibia absent polydactyly arachnoid cyst10.5
13beemer-langer syndrome10.4
14polydactyly, postaxial, types a1 and b10.4
15polydactyly, preaxial type ii10.4
16triphalangeal thumb10.4
17polydactyly, preaxial, type iv10.4
18single median maxillary central incisor10.4SHH
19mckusick-kaufman syndrome10.4
20semilobar holoprosencephaly10.4SHH
21dandy-walker malformation with postaxial polydactyly10.4
22syndactyly-polydactyly-earlobe syndrome10.4
23bardet-biedl syndrome 810.4TTC8
24ellis-van creveld syndrome10.4
25acrocallosal syndrome10.4
26orofaciodigital syndrome vi10.3
27guttmacher syndrome10.3
28polydactyly myopia syndrome10.3
29scalp defects postaxial polydactyly10.3
30meckel syndrome 110.3
31short-rib thoracic dysplasia 7 with or without polydactyly10.3
32hydrocephalus10.3
33polymicrogyria10.3
34smith-lemli-opitz syndrome10.3
35asphyxiating thoracic dystrophy10.3
36absence of tibia with polydactyly10.3
37persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly10.3
38imperforate anus10.3
39hirschsprung disease polydactyly heart disease10.3
40orofaciodigital syndrome v10.2
41laurin-sandrow syndrome10.2
42short-rib thoracic dysplasia 8 with or without polydactyly10.2
43short-rib thoracic dysplasia 1 with or without polydactyly10.2
44postaxial polydactyly, type a210.2
45brachyphalangy, polydactyly, and tibial aplasia/hypoplasia10.2
46polydactyly preaxial type 110.2
47short-rib thoracic dysplasia 10 with or without polydactyly10.2
48short-rib thoracic dysplasia 2 with or without polydactyly10.2
49short-rib thoracic dysplasia 11 with or without polydactyly10.2
50hydrolethalus syndrome10.2

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to polydactyly

Symptoms for Polydactyly

About this section

Drugs & Therapeutics for Polydactyly

About this section

Drug clinical trials:

Search ClinicalTrials for Polydactyly

Search NIH Clinical Center for Polydactyly

Genetic Tests for Polydactyly

About this section

Anatomical Context for Polydactyly

About this section

MalaCards organs/tissues related to Polydactyly:

31
Heart, Kidney, Bone, Brain, Tongue, Skin, Liver, Pituitary, Thymus, Colon, Lung

Animal Models for Polydactyly or affiliated genes

About this section

Publications for Polydactyly

About this section

Articles related to Polydactyly:

(show top 50)    (show all 597)
idTitleAuthorsYear
1
Autopsy observations in lethal short-rib polydactyly syndromes. (25437139)
2015
2
An unusual case of radial polydactyly, (tetraplication of the thumb, duplication of the radial carpal bones and bifurcation of the radius). (25664282)
2014
3
Treatment of postaxial polydactyly type B. (23540414)
2013
4
Correction of postaxial metatarsal polydactyly of the foot by percutaneous ray amputation and osteotomy. (23063205)
2013
5
Congenital polydactyly and polymetatarsalia: classification, genetics, and surgical correction. 1981. (21513870)
2011
6
Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography. (21159031)
2011
7
Understanding the molecular basis of polydactyly. (20954615)
2010
8
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. (19361615)
2009
9
Polydactyly in mice lacking HDAC9/HDRP. (18480421)
2008
10
Crossed polydactyly prenatally diagnosed by 2- and 3-dimensional sonography. (17384052)
2007
11
Preaxial polydactyly in neurofibromatosis 1. (17551336)
2007
12
Polydactyly of the foot. (17414786)
2007
13
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. (16719409)
2006
14
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
15
Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia. (15906413)
2005
16
Experience with the surgical treatment of radial polydactyly in adults. (16186699)
2005
17
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
18
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
19
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
20
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. (12921311)
2003
21
Polydactyly: how many disorders and how many genes? (12357471)
2002
22
P2 Developmental mechanisms underlying polydactyly in the mouse mutant, Doublefoot. (17103775)
2002
23
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
24
Liver fibrocystic disease and polydactyly: proposal of a new syndrome. (11343330)
2001
25
Familial torticollis with polydactyly: manifestation in three generations. (11520023)
2001
26
Distribution of polarizing activity and potential for limb formation in mouse and chick embryos and possible relationships to polydactyly. (10952899)
2000
27
Suppression of polydactyly of the Gli3 mutant (extra toes) by deltaEF1 homozygous mutation. (10969736)
2000
28
Polydactyly reported by Raphael. (11124206)
2000
29
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
30
Postaxial polydactyly, ulnar ray dysgenesis, and renal cystic dysplasia in sibs. (10594882)
1999
31
Polydactyly and functional psychosis. (10645344)
1999
32
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. (9610623)
1998
33
Associated anomalies in individuals with polydactyly. (9880209)
1998
34
Transvaginal sonographic diagnosis of short-rib polydactyly dysplasia at 13 weeks' gestation. (9854733)
1998
35
Evidence that preaxial polydactyly in the Doublefoot mutant is due to ectopic Indian Hedgehog signaling. (9671585)
1998
36
Urinary hydrocolpos, cloacal malformation and pre-axial polydactyly: a rare variant of neonatal hydrocolpos. (9565227)
1998
37
Hand and foot postaxial polydactyly: two different traits. (9375922)
1997
38
The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes. (8986290)
1997
39
Subclassification of polydactyly. (8733358)
1996
40
A new surgical technique for postaxial polydactyly of the foot. (8532771)
1996
41
The zig-zag deformity in pre-axial polydactyly. A new cause and its treatment. (7595006)
1995
42
On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920. (8521156)
1995
43
Beemer-Langer type short rib-polydactyly syndrome: report of two cases. (8085456)
1994
44
A combination surgical method for preaxial polydactyly of the foot. (8239438)
1993
45
Polydactyly of the thumb. (8436855)
1993
46
Dysmorphology report: on the association of microcephaly and preaxial polydactyly. Another example of Howard-Young syndrome. (1472358)
1992
47
Harlequin fetus with polydactyly and renal dysplasia. (2279815)
1990
48
Encephalocele, polycystic kidneys, and polydactyly with other defects. A necropsy case of Meckel syndrome and a review of literature. (3604681)
1987
49
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. (3130854)
1987
50
A 63-mm human fetus with radial aplasia, tibial polydactyly, rib and vertebral fusions, and right aortic arch. (4428420)
1974

Variations for Polydactyly

About this section

Expression for genes affiliated with Polydactyly

About this section
Search GEO for disease gene expression data for Polydactyly.

Pathways for genes affiliated with Polydactyly

About this section

Pathways related to Polydactyly according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GLI2, SHH
29.6GLI2, SHH
39.3GLI2, GLI3, SHH
4
Show member pathways
9.3SHH, GLI3, GLI2
59.3GLI2, GLI3, SHH
6
Show member pathways
9.3GLI2, GLI3, SHH

Compounds for genes affiliated with Polydactyly

About this section

GO Terms for genes affiliated with Polydactyly

About this section

Cellular components related to Polydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1motile primary ciliumGO:00315129.6GLI2, DYNC2H1
2motile ciliumGO:00315149.0BBS4, BBS2
3ciliumGO:00059298.8GLI3, WDR60, TTC8
4BBSomeGO:00344648.6BBS4, BBS2, TTC8
5ciliary membraneGO:00601708.6BBS4, BBS2, TTC8
6ciliary basal bodyGO:00360648.5TTC8, BBS2, BBS4

Biological processes related to Polydactyly according to GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of alpha-beta T cell differentiationGO:004663910.2GLI3, SHH
2artery developmentGO:006084010.2GLI3, SHH
3smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:002177510.2GLI2, GLI3
4positive regulation of alpha-beta T cell differentiationGO:004663810.2GLI3, SHH
5smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:002177610.2GLI3, GLI2
6negative thymic T cell selectionGO:004506010.1SHH, GLI3
7smoothened signaling pathway involved in dorsal/ventral neural tube patterningGO:006083110.1GLI2, GLI3
8positive regulation of protein import into nucleusGO:004230710.1SHH, GLI3
9positive regulation of neuroblast proliferationGO:000205210.1GLI3, SHH
10protein processingGO:001648510.1DYNC2H1, GLI3
11embryonic digestive tract developmentGO:004856610.1GLI2, GLI3
12embryonic digestive tract morphogenesisGO:004855710.1SHH, GLI3
13spinal cord motor neuron differentiationGO:002152210.1DYNC2H1, SHH
14ventral midline developmentGO:000741810.0SHH, GLI2
15smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:002193810.0GLI2, SHH
16spinal cord dorsal/ventral patterningGO:002151310.0SHH, GLI2
17proximal/distal pattern formationGO:000995410.0GLI3, GLI2
18positive regulation of T cell differentiation in thymusGO:003308910.0GLI2, SHH
19metanephros developmentGO:000165610.0GLI3, SHH
20developmental growthGO:004858910.0GLI2, GLI3
21hindbrain developmentGO:003090210.0GLI2, SHH
22osteoblast developmentGO:00020769.9SHH, GLI2
23T cell differentiation in thymusGO:00330779.9GLI3, SHH
24dorsal/ventral pattern formationGO:00099539.8DYNC2H1, SHH
25branching morphogenesis of an epithelial tubeGO:00487549.8SHH, GLI2
26branching involved in ureteric bud morphogenesisGO:00016589.8SHH, GLI3
27hindgut morphogenesisGO:00074429.8SHH, GLI3, GLI2
28smoothened signaling pathwayGO:00072249.8GLI2, GLI3, SHH
29odontogenesis of dentin-containing toothGO:00424759.7SHH, GLI2, GLI3
30lung developmentGO:00303249.7GLI2, SHH, GLI3
31heart developmentGO:00075079.7GLI2, GLI3, SHH
32embryonic limb morphogenesisGO:00303269.6SHH, DYNC2H1
33sensory processingGO:00508939.6BBS4, TTC8
34negative regulation of appetite by leptin-mediated signaling pathwayGO:00381089.5BBS2, BBS4
35regulation of cilium beat frequency involved in ciliary motilityGO:00602969.5BBS2, BBS4
36nonmotile primary cilium assemblyGO:00350589.4BBS4, BBS2
37striatum developmentGO:00217569.4BBS4, BBS2
38protein localization to organelleGO:00333659.4BBS2, BBS4
39brain morphogenesisGO:00488549.4BBS4, BBS2
40embryonic digit morphogenesisGO:00427339.4GLI2, GLI3, LMBR1, SHH
41melanosome transportGO:00324029.4BBS2, BBS4
42adult behaviorGO:00305349.3BBS2, BBS4
43photoreceptor cell maintenanceGO:00454949.3BBS2, BBS4
44positive regulation of multicellular organism growthGO:00400189.2BBS2, BBS4
45axon guidanceGO:00074119.2TTC8, GLI2, GLI3, SHH
46cilium assemblyGO:00423849.2BBS4, TTC8, DYNC2H1
47hippocampus developmentGO:00217669.1BBS2, BBS4
48cerebral cortex developmentGO:00219879.0BBS2, BBS4
49fat cell differentiationGO:00454449.0TTC8, BBS2, BBS4
50cilium morphogenesisGO:00602718.7BBS4, BBS2

Molecular functions related to Polydactyly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00037779.3DYNC2H1, BBS4
2RNA polymerase II repressing transcription factor bindingGO:00011038.2BBS4, BBS2, TTC8

Sources for Polydactyly

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet