MCID: PLY006
MIFTS: 56

Polydactyly malady

Rare diseases, Bone diseases, Fetal diseases categories

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 brain, and related mouse phenotypes are skeleton and hearing/vestibular/ear.

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

Aliases & Classifications for Polydactyly

About this section

Polydactyly, Aliases & Descriptions:

Name: Polydactyly 9 42 11 44
Polydactyly, Postaxial 44 61
Polydactyly Postaxial 42
Postaxial Polydactyly 9
Supernumerary Digits 42
 
Polydactylism 42
Extra Digits 42
Hyperdactyly 42
Polydactylia 42


Classifications:

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


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/GeneDecks gene sharing:

(show top 50)    (show all 392)
idRelated DiseaseScoreTop Affiliating Genes
1greig cephalopolysyndactyly syndrome31.0GLI3
2syndactyly31.0GLI3, LMBR1
3pallister-hall syndrome30.8GLI3, SHH
4holoprosencephaly30.4SHH, GLI3, GLI2
5cleft lip30.3SHH, GLI2
6bardet-biedl syndrome30.2BBS4, BBS2, TTC8
7vacterl association30.2GLI2, SHH
8synostosis30.0SHH, GLI3
9obesity29.1TTC8, BBS2, BBS4
10beemer-langer syndrome10.5
11short rib-polydactyly syndrome type 210.5
12short rib-polydactyly syndrome type 310.4
13triphalangeal thumb10.4
14semilobar holoprosencephaly10.4SHH
15single median maxillary central incisor10.4SHH
16bardet-biedl syndrome 810.4TTC8
17saldino-noonan syndrome10.4
18tibia absent polydactyly arachnoid cyst10.4
19dandy-walker malformation with postaxial polydactyly10.3
20polydactyly myopia syndrome10.3
21postaxial polydactyly type a10.3
22megalencephaly10.3
23polydactyly, postaxial, types a1 and b10.3
24short-rib thoracic dysplasia 3 with or without polydactyly10.3
25hydrocephalus10.3
26polymicrogyria10.3
27ellis-van creveld syndrome10.3
28mckusick-kaufman syndrome10.3
29preaxial deficiency, postaxial polydactyly and hypospadias10.3
30syndactyly-polydactyly-earlobe syndrome10.3
31polydactyly, preaxial type ii10.3
32acrocallosal syndrome10.3
33imperforate anus10.3
34polydactyly preaxial type 410.3
35scalp defects postaxial polydactyly10.3
36meckel syndrome10.2
37persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly10.2
38brachyphalangy, polydactyly, and tibial aplasia/hypoplasia10.2
39ectrodactyly polydactyly10.2
40hirschsprung disease polydactyly heart disease10.2
41short-rib thoracic dysplasia 6 with or without polydactyly10.2
42short-rib thoracic dysplasia 11 with or without polydactyly10.2
43bardet-biedl syndrome 410.2BBS4
44dextrocardia10.2
45smith-lemli-opitz syndrome10.2
46situs inversus10.2
47asphyxiating thoracic dystrophy10.2
48absence of tibia with polydactyly10.2
49ectodermal dysplasia alopecia preaxial polydactyly10.2
50polydactyly preaxial type 110.2

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to polydactyly

Symptoms for Polydactyly

About this section


Clinical features from OMIM:

174200,174700,603596,174500

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:

32
Heart, Kidney, Brain, Tongue, Bone, 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 579)
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
Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant. (16719409)
2006
13
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
14
Recurrent short-rib polydactyly syndrome: prenatal three-dimensional ultrasound findings and associations with congenital high airway obstruction and pyelectasia. (15906413)
2005
15
Experience with the surgical treatment of radial polydactyly in adults. (16186699)
2005
16
Exencephaly induction by valproic acid in the genetic polydactyly/arhinencephaly mouse, Pdn/Pdn. (16359493)
2005
17
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. (16440883)
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
Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. (15057119)
2004
21
A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts. (12921311)
2003
22
Polydactyly: how many disorders and how many genes? (12357471)
2002
23
P2 Developmental mechanisms underlying polydactyly in the mouse mutant, Doublefoot. (17103775)
2002
24
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
25
Liver fibrocystic disease and polydactyly: proposal of a new syndrome. (11343330)
2001
26
Familial torticollis with polydactyly: manifestation in three generations. (11520023)
2001
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
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

About this section

Expression for genes affiliated with Polydactyly

About this section
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

About this section

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/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:04663910.2GLI3, SHH
2artery developmentGO:06084010.2GLI3, SHH
3smoothened signaling pathway involved in ventral spinal cord interneuron specificationGO:02177510.2GLI2, GLI3
4positive regulation of alpha-beta T cell differentiationGO:04663810.2GLI3, SHH
5smoothened signaling pathway involved in spinal cord motor neuron cell fate specificationGO:02177610.2GLI3, 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:04230710.1SHH, GLI3
9positive regulation of neuroblast proliferationGO:00205210.1GLI3, SHH
10protein processingGO:01648510.1DYNC2H1, GLI3
11embryonic digestive tract developmentGO:04856610.1GLI2, GLI3
12embryonic digestive tract morphogenesisGO:04855710.1SHH, GLI3
13spinal cord motor neuron differentiationGO:02152210.1DYNC2H1, SHH
14ventral midline developmentGO:00741810.0SHH, GLI2
15smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferationGO:02193810.0GLI2, SHH
16spinal cord dorsal/ventral patterningGO:02151310.0SHH, GLI2
17proximal/distal pattern formationGO:00995410.0GLI3, GLI2
18positive regulation of T cell differentiation in thymusGO:03308910.0GLI2, SHH
19metanephros developmentGO:00165610.0GLI3, SHH
20developmental growthGO:04858910.0GLI2, GLI3
21hindbrain developmentGO:03090210.0GLI2, SHH
22osteoblast developmentGO:0020769.9SHH, GLI2
23T cell differentiation in thymusGO:0330779.9GLI3, SHH
24dorsal/ventral pattern formationGO:0099539.8DYNC2H1, SHH
25branching morphogenesis of an epithelial tubeGO:0487549.8SHH, GLI2
26branching involved in ureteric bud morphogenesisGO:0016589.8SHH, GLI3
27hindgut morphogenesisGO:0074429.8SHH, GLI3, GLI2
28smoothened signaling pathwayGO:0072249.8GLI2, GLI3, SHH
29odontogenesis of dentin-containing toothGO:0424759.7SHH, GLI2, GLI3
30lung developmentGO:0303249.7GLI2, SHH, GLI3
31heart developmentGO:0075079.7GLI2, GLI3, SHH
32embryonic limb morphogenesisGO:0303269.6SHH, DYNC2H1
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:0350589.4BBS4, BBS2
37striatum developmentGO:0217569.4BBS4, BBS2
38protein localization to organelleGO:0333659.4BBS2, BBS4
39brain morphogenesisGO:0488549.4BBS4, BBS2
40embryonic digit morphogenesisGO:0427339.4GLI2, GLI3, LMBR1, SHH
41melanosome transportGO:0324029.4BBS2, BBS4
42adult behaviorGO:0305349.3BBS2, BBS4
43photoreceptor cell maintenanceGO:0454949.3BBS2, BBS4
44positive regulation of multicellular organism growthGO:0400189.2BBS2, BBS4
45axon guidanceGO:0074119.2TTC8, GLI2, GLI3, SHH
46cilium assemblyGO:0423849.2BBS4, TTC8, DYNC2H1
47hippocampus developmentGO:0217669.1BBS2, BBS4
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Polydactyly

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet