MCID: PLY006
MIFTS: 59

Polydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Polydactyly

MalaCards integrated aliases for Polydactyly:

Name: Polydactyly 56 12 74 52 29 54 6 43 15 39 32
Non-Syndromic Polydactyly 52 58
Polydactyly, Postaxial 43 71
Postaxial Polydactyly 12
Supernumerary Digits 52
Supernumerary Digit 12
Polydactylism 52
Extra Digits 52
Hyperdactyly 52
Polydactylia 52

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1148
OMIM 56 603596
ICD9CM 34 755.0
NCIt 49 C87110
SNOMED-CT 67 367506006
ICD10 32 Q69 Q69.9
MESH via Orphanet 44 D017689
ICD10 via Orphanet 33 Q69.0 Q69.1 Q69.2 more
UMLS via Orphanet 72 C0152427
Orphanet 58 ORPHA2913
MedGen 41 C0152427
UMLS 71 C0152427 C0220697

Summaries for Polydactyly

NIH Rare Diseases : 52 Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot. It is the most common birth defect of the hand and foot. Polydactyly can occur as an isolated finding such that the person has no other physical anomalies or intellectual impairment. However, it can occur in association with other birth defects and cognitive abnormalities as part of a genetic syndrome . In some cases, the extra digits may be well-formed and functional. Surgery may be considered especially for poorly formed digits or very large extra digits. Surgical management depends greatly on the complexity of the deformity.

MalaCards based summary : Polydactyly, also known as non-syndromic polydactyly, is related to polydactyly, preaxial ii and short-rib thoracic dysplasia 7 with or without polydactyly. An important gene associated with Polydactyly is MKS1 (MKS Transition Zone Complex Subunit 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. The drugs Liver Extracts and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and heart, and related phenotypes are growth/size/body region and mortality/aging

Disease Ontology : 12 A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot.

Wikipedia : 74 Polydactyly or polydactylism (from Greek πολύς (polys), meaning 'many', and δάκτυλος (daktylos), meaning... more...

More information from OMIM: 603596

Related Diseases for Polydactyly

Diseases in the Polydactyly family:

Central Polydactyly

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

(show top 50) (show all 638)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial ii 35.0 SHH LMBR1
2 short-rib thoracic dysplasia 7 with or without polydactyly 34.9 WDR35 TCTEX1D2 DYNC2I1
3 tibia, hypoplasia or aplasia of, with polydactyly 34.8 SHH LMBR1 GLI3
4 short-rib thoracic dysplasia 8 with or without polydactyly 34.7 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
5 short-rib thoracic dysplasia 3 with or without polydactyly 34.7 WDR35 TCTEX1D2 NEK1 IFT81 IFT172 DYNC2LI1
6 short-rib thoracic dysplasia 4 with or without polydactyly 34.7 WDR35 TCTEX1D2 DYNC2I1
7 short-rib thoracic dysplasia 6 with or without polydactyly 34.7 WDR35 TCTEX1D2 NEK1 IFT172 DYNC2LI1 DYNC2I2
8 short-rib thoracic dysplasia 11 with or without polydactyly 34.6 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
9 short-rib thoracic dysplasia 14 with polydactyly 34.6 ZNF141 GLI3
10 short-rib thoracic dysplasia 1 with or without polydactyly 34.5 WDR35 NEK1 IFT172 DYNC2LI1 DYNC2I2 DYNC2I1
11 short rib-polydactyly syndrome 34.4 WDR35 NEK1 IFT81 DYNC2LI1 DYNC2I2 DYNC2I1
12 short-rib thoracic dysplasia 9 with or without polydactyly 34.2 WDR35 IFT172
13 short-rib thoracic dysplasia 12 34.1 WDR35 TCTEX1D2 NEK1 DYNC2LI1 DYNC2I2 DYNC2I1
14 pallister-hall syndrome 34.0 ZNF141 SHH GLI3
15 culler-jones syndrome 33.9 SHH GLI3 DYNC2I2
16 acrocallosal syndrome 33.8 ZNF141 SHH GLI3 BBS4 BBS2
17 mckusick-kaufman syndrome 33.8 TTC8 GLI3 BBS4 BBS2
18 laurin-sandrow syndrome 33.6 ZNF141 SHH MIPOL1 LMBR1 GLI3
19 asphyxiating thoracic dystrophy 33.5 WDR35 TCTEX1D2 NEK1 IFT81 IFT172 DYNC2LI1
20 greig cephalopolysyndactyly syndrome 33.3 ZNF141 SHH LMBR1 GLI3
21 weyers acrofacial dysostosis 33.1 WDR35 NEK1 IFT172 DYNC2LI1 DYNC2I2 DYNC2I1
22 orofaciodigital syndrome iv 33.1 DYNC2I2 DYNC2I1
23 bardet-biedl syndrome 7 32.9 TCTEX1D2 DYNC2I2 DYNC2I1
24 syndactyly, type iv 32.8 SHH LMBR1
25 meckel syndrome, type 1 32.7 SHH MKS1 IFT172 GLI3 DYNC2H1 BBS4
26 ellis-van creveld syndrome 32.7 WDR35 TCTEX1D2 SHH NEK1 IFT81 IFT172
27 bardet-biedl syndrome 17 32.6 TTC8 MKS1 BBS4 BBS2
28 bardet-biedl syndrome 16 32.6 TTC8 MKS1 BBS4
29 bardet-biedl syndrome 6 32.5 TTC8 MKS1 BBS4 BBS2
30 bardet-biedl syndrome 32.3 WDR35 TTC8 SHH MKS1 IFT81 IFT172
31 bardet-biedl syndrome 14 32.2 TTC8 MKS1 BBS4 BBS2
32 joubert syndrome 1 32.1 WDR35 SHH NEK1 MKS1 IFT81 IFT172
33 bardet-biedl syndrome 3 32.1 TTC8 MKS1 BBS4 BBS2
34 bardet-biedl syndrome 13 32.0 TTC8 MKS1 BBS4 BBS2
35 bardet-biedl syndrome 11 32.0 TTC8 MKS1 BBS4 BBS2
36 bardet-biedl syndrome 8 32.0 TTC8 MKS1 BBS4 BBS2
37 bardet-biedl syndrome 19 31.9 TTC8 BBS2
38 chromosome 2q35 duplication syndrome 31.8 SHH LMBR1 GLI3
39 bardet-biedl syndrome 15 31.8 TTC8 BBS4
40 bardet-biedl syndrome 10 31.8 BBS4 BBS2
41 bardet-biedl syndrome 18 31.7 TTC8 MKS1 BBS4 BBS2
42 cleft lip/palate 31.0 WDR35 TCTEX1D2 NEK1 IFT81 IFT172 DYNC2LI1
43 synostosis 30.8 SHH LMBR1 GLI3
44 radial hemimelia 30.6 SHH LMBR1
45 retinitis pigmentosa 30.3 WDR35 TTC8 SHH MKS1 IFT172 DYNC2H1
46 nephronophthisis 30.1 WDR35 SHH MKS1 IFT172 DYNC2H1 BBS4
47 cranioectodermal dysplasia 1 30.1 WDR35 TCTEX1D2 NEK1 MKS1 IFT172 GLI3
48 senior-loken syndrome 1 30.0 MKS1 IFT172 BBS4 BBS2
49 polycystic kidney disease 4 with or without polycystic liver disease 30.0 MKS1 BBS4 BBS2
50 visceral heterotaxy 30.0 SHH MKS1 DYNC2H1 BBS4 BBS2

Graphical network of the top 20 diseases related to Polydactyly:



Diseases related to Polydactyly

Symptoms & Phenotypes for Polydactyly

Clinical features from OMIM:

603596

MGI Mouse Phenotypes related to Polydactyly:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 BBS2 BBS4 BRCA2 DYNC2H1 DYNC2I1 DYNC2LI1
2 mortality/aging MP:0010768 10.31 BBS4 BRCA2 CCND2 DYNC2H1 DYNC2I1 DYNC2LI1
3 cardiovascular system MP:0005385 10.29 BBS4 CCND2 DYNC2H1 DYNC2I1 DYNC2LI1 GLI3
4 cellular MP:0005384 10.28 BBS2 BBS4 BRCA2 DYNC2H1 DYNC2LI1 GLI3
5 nervous system MP:0003631 10.22 BBS2 BBS4 BRCA2 CCND2 DYNC2H1 DYNC2LI1
6 embryo MP:0005380 10.19 BBS4 BRCA2 DYNC2H1 DYNC2I1 DYNC2LI1 GLI3
7 digestive/alimentary MP:0005381 10.16 BBS2 BBS4 BRCA2 DYNC2H1 GLI3 IFT172
8 limbs/digits/tail MP:0005371 10.16 BBS2 BRCA2 DYNC2H1 DYNC2LI1 GLI3 IFT172
9 craniofacial MP:0005382 10.13 BBS4 DYNC2H1 GLI3 IFT172 MKS1 NEK1
10 renal/urinary system MP:0005367 10.02 BBS2 BBS4 DYNC2H1 GLI3 IFT172 MKS1
11 reproductive system MP:0005389 9.97 BBS2 BBS4 BRCA2 CCND2 GLI3 MKS1
12 respiratory system MP:0005388 9.86 BBS4 DYNC2H1 GLI3 IFT172 MKS1 SHH
13 skeleton MP:0005390 9.85 BRCA2 CCND2 DYNC2H1 GLI3 IFT172 LMBR1
14 vision/eye MP:0005391 9.36 BBS2 BBS4 CCND2 DYNC2H1 GLI3 IFT172
15 taste/olfaction MP:0005394 9.35 BBS2 BBS4 GLI3 SHH TTC8

Drugs & Therapeutics for Polydactyly

Drugs for Polydactyly (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts
2 Antiviral Agents
3 Anti-Infective Agents
4 Anti-Retroviral Agents
5 Insulin, Globin Zinc
6 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
2 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Triphalangeal Thumbs in the Pediatric Population: Long Term Outcomes Following Surgical Intervention Completed NCT01409980
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
6 Clinical and Molecular Study, Natural History of Asphyxiating Thoracic Dystrophy (DTJ) Completed NCT00948376
7 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
8 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders Active, not recruiting NCT00691223
9 HIV Exposure, Disease Acquisition and Progression Among Children: Role of Maternal Immunogenetics, Viral Genetic Diversity, HAART Exposure, Co-morbidities and Psycho-Social Status: (UZ-CHS Birth Cohort) Active, not recruiting NCT04087239
10 Visualize Nociceptor Changes in Neuropathic Human Not yet recruiting NCT03112057
11 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Polydactyly

Cochrane evidence based reviews: polydactyly

Genetic Tests for Polydactyly

Genetic tests related to Polydactyly:

# Genetic test Affiliating Genes
1 Polydactyly 29

Anatomical Context for Polydactyly

MalaCards organs/tissues related to Polydactyly:

40
Kidney, Bone, Heart, Brain, Liver, Eye, Tongue

Publications for Polydactyly

Articles related to Polydactyly:

(show top 50) (show all 2970)
# Title Authors PMID Year
1
Polydactyly: how many disorders and how many genes? 61 56
12357471 2002
2
Associated anomalies in individuals with polydactyly. 61 56
9880209 1998
3
Epidemiological analysis of rare polydactylies. 56 61
8923939 1996
4
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 54 61
20142850 2010
5
Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly. 54 61
18925664 2008
6
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 54 61
18766993 2008
7
Canine polydactyl mutations with heterogeneous origin in the conserved intronic sequence of LMBR1. 54 61
18689889 2008
8
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. 54 61
18272352 2008
9
Holoprosencephaly-Polydactyly syndrome: in search of an etiology. 54 61
18178536 2008
10
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. 61 54
18252212 2008
11
Characterization of a novel ectodermal signaling center regulating Tbx2 and Shh in the vertebrate limb. 61 54
17300775 2007
12
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. 61 54
17300748 2007
13
Single nucleotide polymorphisms in the chicken Lmbr1 gene are associated with chicken polydactyly. 54 61
16650944 2006
14
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 54 61
16606853 2006
15
Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. 54 61
16874813 2006
16
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 54 61
16308660 2006
17
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. 54 61
16865294 2006
18
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 54 61
15772095 2005
19
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 61 54
16440883 2005
20
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 61 54
15581864 2004
21
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 54 61
12620993 2003
22
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. 54 61
12365916 2002
23
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 54 61
11850178 2002
24
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1. 54 61
11606546 2001
25
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 61 54
11381270 2001
26
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 54 61
10441342 1999
27
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 54 61
10441570 1999
28
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly. 54 61
9600232 1998
29
Point mutations in human GLI3 cause Greig syndrome. 54 61
9302279 1997
30
Geminin is required for Hox gene regulation to pattern the developing limb. 61
32450229 2020
31
Association between maternal exposure to PM10 and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China. 61
32416360 2020
32
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
33
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A. 61
32147526 2020
34
Role of Chondrocytes in the Development of Rheumatoid Arthritis Via Transmembrane Protein 147-Mediated NF-κB Activation. 61
31785076 2020
35
[Hetero-digital toe flap according to the « spare-part » concept taken from a duplicated toe for the treatment of a cutaneous flessum of an associated clinodactyly]. 61
32070654 2020
36
Reconstruction of a distal index fingertip in a patient with thumb polydactyly: a case report. 61
32493114 2020
37
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling. 61
32413283 2020
38
Aesthetic and Anatomic Reconstruction of Polysyndactyly of the Fifth Toe Fused With the Fourth Toe. 61
32568755 2020
39
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. 61
32386558 2020
40
Ellis-van Creveld syndrome: Report of a case and recurrent variant. 61
32072716 2020
41
Fetal hydrometrocolpos with pre-axial mirror polydactyly as a new variant of McKusick-Kaufman syndrome. 61
32537787 2020
42
Treatment for Wassel Types V and VI Thumb Polydactyly. 61
32312205 2020
43
Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation. 61
31879841 2020
44
Tbx5 inhibits hedgehog signaling in determination of digit identity. 61
31373354 2020
45
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it. 61
32495660 2020
46
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. 61
32112393 2020
47
Clinical Characteristics and Distribution of Thumb Polydactyly in South China: A Retrospective Analysis of 483 Hands. 61
32473835 2020
48
Functional characterization of a candidate tumor suppressor gene, Mirror Image Polydactyly 1, in nasopharyngeal carcinoma. 61
31609475 2020
49
To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision. 61
30417703 2020
50
Reconstruction of Wassel IV-D radial polydactyly with a boot-shaped neurovascular island flap: A Consecutive series of 91 thumbs. 61
32565137 2020

Variations for Polydactyly

ClinVar genetic disease variations for Polydactyly:

6 (show top 50) (show all 213) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MKS1 NM_001165927.1(MKS1):c.1136-2A>CSNV Pathogenic 523519 rs1488635637 17:56285364-56285364 17:58208003-58208003
2 covers 25 genes, none of which curated to show dosage sensitivity deletion Pathogenic 549857 2:219925666-220914504
3 BRCA2 NM_000059.3(BRCA2):c.9235del (p.Val3079fs)deletion Pathogenic 38221 rs397507422 13:32954261-32954261 13:32380124-32380124
4 MKS1 NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del)deletion Pathogenic/Likely pathogenic 217677 rs754279998 17:56285514-56285516 17:58208153-58208155
5 CC2D2A NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met)SNV Conflicting interpretations of pathogenicity 56304 rs386833752 4:15569352-15569352 4:15567729-15567729
6 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)SNV Conflicting interpretations of pathogenicity 1393 rs137853105 17:56283840-56283840 17:58206479-58206479
7 GLI3 NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)SNV Conflicting interpretations of pathogenicity 13821 rs121917710 7:42007446-42007446 7:41967848-41967848
8 GLI3 NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)SNV Conflicting interpretations of pathogenicity 283130 rs199875457 7:42004736-42004736 7:41965138-41965138
9 GLI3 NM_000168.6(GLI3):c.1485G>A (p.Glu495=)SNV Conflicting interpretations of pathogenicity 284084 rs149248727 7:42063079-42063079 7:42023480-42023480
10 GLI3 NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)SNV Conflicting interpretations of pathogenicity 284525 rs148043302 7:42004909-42004909 7:41965311-41965311
11 GLI3 NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)SNV Conflicting interpretations of pathogenicity 284912 rs140048578 7:42007380-42007380 7:41967782-41967782
12 GLI3 NM_000168.6(GLI3):c.1959G>A (p.Pro653=)SNV Conflicting interpretations of pathogenicity 289071 rs148226583 7:42012080-42012080 7:41972481-41972481
13 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)SNV Conflicting interpretations of pathogenicity 265180 rs376725882 7:42187951-42187951 7:42148352-42148352
14 GLI3 NM_000168.6(GLI3):c.*2276T>CSNV Conflicting interpretations of pathogenicity 360173 rs568393106 7:42001652-42001652 7:41962054-41962054
15 GLI3 NM_000168.6(GLI3):c.*185G>ASNV Conflicting interpretations of pathogenicity 360216 rs531678760 7:42003743-42003743 7:41964145-41964145
16 GLI3 NM_000168.6(GLI3):c.*3309C>ASNV Conflicting interpretations of pathogenicity 360157 rs553151369 7:42000619-42000619 7:41961021-41961021
17 GLI3 NM_000168.6(GLI3):c.*2620C>GSNV Conflicting interpretations of pathogenicity 360166 rs56158069 7:42001308-42001308 7:41961710-41961710
18 HOXD13 NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)SNV Conflicting interpretations of pathogenicity 374019 rs200750564 2:176959246-176959246 2:176094518-176094518
19 GLI3 NM_000168.6(GLI3):c.353T>C (p.Met118Thr)SNV Uncertain significance 360259 rs886062339 7:42187839-42187839 7:42148240-42148240
20 GLI3 NM_000168.6(GLI3):c.-3A>GSNV Uncertain significance 360263 rs886062340 7:42262855-42262855 7:42223256-42223256
21 GLI3 NM_000168.6(GLI3):c.*2676C>TSNV Uncertain significance 360164 rs886062312 7:42001252-42001252 7:41961654-41961654
22 GLI3 NM_000168.6(GLI3):c.*2666G>ASNV Uncertain significance 360165 rs117987369 7:42001262-42001262 7:41961664-41961664
23 GLI3 NM_000168.6(GLI3):c.-47C>TSNV Uncertain significance 360265 rs886062341 7:42276574-42276574 7:42236975-42236975
24 GLI3 NM_000168.6(GLI3):c.*974T>ASNV Uncertain significance 360199 rs886062328 7:42002954-42002954 7:41963356-41963356
25 GLI3 NM_000168.6(GLI3):c.*512C>TSNV Uncertain significance 360208 rs886062330 7:42003416-42003416 7:41963818-41963818
26 GLI3 NM_000168.6(GLI3):c.*248dupduplication Uncertain significance 360214 rs5883809 7:42003679-42003680 7:41964081-41964082
27 GLI3 NM_000168.6(GLI3):c.*165A>GSNV Uncertain significance 360217 rs886062333 7:42003763-42003763 7:41964165-41964165
28 GLI3 NM_000168.6(GLI3):c.2493C>A (p.Ser831Arg)SNV Uncertain significance 360237 rs752838669 7:42006178-42006178 7:41966580-41966580
29 GLI3 NM_000168.6(GLI3):c.1845T>C (p.Thr615=)SNV Uncertain significance 360241 rs373687877 7:42012194-42012194 7:41972595-41972595
30 GLI3 NM_000168.6(GLI3):c.681G>A (p.Ala227=)SNV Uncertain significance 360252 rs752998397 7:42085128-42085128 7:42045529-42045529
31 GLI3 NM_000168.6(GLI3):c.*2419T>CSNV Uncertain significance 360169 rs886062315 7:42001509-42001509 7:41961911-41961911
32 GLI3 NM_000168.6(GLI3):c.*2257A>TSNV Uncertain significance 360174 rs886062316 7:42001671-42001671 7:41962073-41962073
33 GLI3 NM_000168.6(GLI3):c.*2216T>CSNV Uncertain significance 360175 rs886062317 7:42001712-42001712 7:41962114-41962114
34 GLI3 NM_000168.6(GLI3):c.*1386A>GSNV Uncertain significance 360188 rs886062322 7:42002542-42002542 7:41962944-41962944
35 GLI3 NM_000168.6(GLI3):c.*66G>TSNV Uncertain significance 360219 rs886062334 7:42003862-42003862 7:41964264-41964264
36 GLI3 NM_000168.6(GLI3):c.4296G>A (p.Leu1432=)SNV Uncertain significance 360225 rs768735366 7:42004375-42004375 7:41964777-41964777
37 GLI3 NM_000168.6(GLI3):c.827-6T>CSNV Uncertain significance 360249 rs886062337 7:42079844-42079844 7:42040245-42040245
38 GLI3 NM_000168.6(GLI3):c.641C>T (p.Ser214Phe)SNV Uncertain significance 360253 rs886062338 7:42088128-42088128 7:42048529-42048529
39 GLI3 NM_000168.6(GLI3):c.*1366C>TSNV Uncertain significance 360189 rs886062323 7:42002562-42002562 7:41962964-41962964
40 GLI3 NM_000168.6(GLI3):c.-83C>TSNV Uncertain significance 360268 rs886062343 7:42276610-42276610 7:42237011-42237011
41 GLI3 NM_000168.6(GLI3):c.*3094T>CSNV Uncertain significance 360160 rs886062311 7:42000834-42000834 7:41961236-41961236
42 GLI3 NM_000168.6(GLI3):c.*2358deldeletion Uncertain significance 360170 rs144064690 7:42001570-42001570 7:41961972-41961972
43 GLI3 NM_000168.6(GLI3):c.*2146_*2150deldeletion Uncertain significance 360176 rs774204684 7:42001778-42001782 7:41962180-41962184
44 GLI3 NM_000168.6(GLI3):c.*1858C>TSNV Uncertain significance 360180 rs886062318 7:42002070-42002070 7:41962472-41962472
45 GLI3 NM_000168.6(GLI3):c.*1688C>GSNV Uncertain significance 360183 rs886062320 7:42002240-42002240 7:41962642-41962642
46 GLI3 NM_000168.6(GLI3):c.*1471C>TSNV Uncertain significance 360185 rs886062321 7:42002457-42002457 7:41962859-41962859
47 GLI3 NM_000168.6(GLI3):c.*589T>CSNV Uncertain significance 360207 rs886062329 7:42003339-42003339 7:41963741-41963741
48 GLI3 NM_000168.6(GLI3):c.*266_*267insAinsertion Uncertain significance 360210 rs1554304160 7:42003661-42003662 7:41964063-41964064
49 GLI3 NM_000168.6(GLI3):c.4590C>T (p.Asn1530=)SNV Uncertain significance 360220 rs886062335 7:42004081-42004081 7:41964483-41964483
50 GLI3 NM_000168.6(GLI3):c.*1027C>TSNV Uncertain significance 360197 rs886062326 7:42002901-42002901 7:41963303-41963303

Copy number variations for Polydactyly from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 97909 16 14700000 16700000 Duplication or deletion polydactyly

Expression for Polydactyly

Search GEO for disease gene expression data for Polydactyly.

Pathways for Polydactyly

GO Terms for Polydactyly

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 10.16 WDR35 TTC8 NEK1 MKS1 DYNC2LI1 DYNC2I2
2 cell projection GO:0042995 10.15 WDR35 TTC8 MKS1 IFT81 IFT172 GLI3
3 microtubule organizing center GO:0005815 10.03 WDR35 TTC8 NEK1 MKS1 DYNC2LI1 BRCA2
4 centrosome GO:0005813 10.02 WDR35 TTC8 TCTEX1D2 NEK1 MKS1 IFT81
5 motile cilium GO:0031514 9.89 IFT81 DYNC2LI1 DYNC2H1 BBS4 BBS2
6 ciliary basal body GO:0036064 9.81 WDR35 TTC8 MKS1 IFT81 IFT172 DYNC2LI1
7 cytoplasmic dynein complex GO:0005868 9.8 TCTEX1D2 DYNC2LI1 DYNC2I2 DYNC2I1 DYNC2H1
8 axoneme GO:0005930 9.8 WDR35 TCTEX1D2 IFT172 GLI3 DYNC2LI1 DYNC2I2
9 ciliary membrane GO:0060170 9.74 TTC8 BBS4 BBS2
10 ciliary base GO:0097546 9.73 TCTEX1D2 GLI3 DYNC2I1
11 ciliary transition zone GO:0035869 9.7 MKS1 DYNC2LI1 BBS4
12 pericentriolar material GO:0000242 9.69 NEK1 DYNC2I1 BBS4
13 BBSome GO:0034464 9.65 TTC8 BBS4 BBS2
14 intraciliary transport particle B GO:0030992 9.58 IFT81 IFT172
15 ciliary tip GO:0097542 9.56 WDR35 IFT81 IFT172 GLI3 DYNC2LI1 DYNC2I2
16 ciliary plasm GO:0097014 9.55 DYNC2I2 DYNC2I1
17 interphase microtubule organizing center GO:0031021 9.54 TCTEX1D2 DYNC2I1
18 cilium GO:0005929 9.4 WDR35 TTC8 MKS1 IFT81 IFT172 GLI3

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.98 WDR35 SHH BBS4 BBS2
2 heart development GO:0007507 9.97 SHH IFT172 GLI3 DYNC2H1
3 neural tube closure GO:0001843 9.85 MKS1 IFT172 BBS4
4 microtubule-based movement GO:0007018 9.83 DYNC2I2 DYNC2I1 DYNC2H1
5 fat cell differentiation GO:0045444 9.82 TTC8 BBS4 BBS2
6 hippocampus development GO:0021766 9.82 GLI3 BBS4 BBS2
7 forebrain development GO:0030900 9.81 SHH GLI3 DYNC2H1
8 roof of mouth development GO:0060021 9.8 SHH IFT172 GLI3
9 smoothened signaling pathway GO:0007224 9.8 SHH IFT172 GLI3
10 determination of left/right symmetry GO:0007368 9.8 SHH MKS1 IFT172 DYNC2LI1 DYNC2H1
11 heart looping GO:0001947 9.79 SHH IFT172 BBS4
12 protein processing GO:0016485 9.78 IFT172 GLI3 DYNC2H1
13 embryonic digit morphogenesis GO:0042733 9.78 SHH MKS1 LMBR1 GLI3
14 embryonic limb morphogenesis GO:0030326 9.77 SHH GLI3 DYNC2H1
15 limb development GO:0060173 9.76 SHH IFT172 GLI3
16 positive regulation of smoothened signaling pathway GO:0045880 9.73 SHH IFT172 DYNC2H1
17 dorsal/ventral pattern formation GO:0009953 9.73 SHH IFT172 GLI3 DYNC2H1
18 non-motile cilium assembly GO:1905515 9.73 TTC8 MKS1 IFT172 DYNC2H1 BBS4 BBS2
19 intraciliary transport GO:0042073 9.72 WDR35 IFT81 IFT172 DYNC2I2 DYNC2I1
20 embryonic morphogenesis GO:0048598 9.7 SHH GLI3
21 protein localization to cilium GO:0061512 9.7 WDR35 DYNC2H1 BBS4
22 intraciliary transport involved in cilium assembly GO:0035735 9.7 WDR35 IFT81 IFT172 DYNC2LI1 DYNC2I2 DYNC2I1
23 melanosome transport GO:0032402 9.69 BBS4 BBS2
24 anatomical structure formation involved in morphogenesis GO:0048646 9.69 SHH GLI3
25 embryonic digestive tract morphogenesis GO:0048557 9.69 SHH GLI3
26 branching morphogenesis of an epithelial tube GO:0048754 9.69 SHH MKS1 GLI3
27 regulation of stress fiber assembly GO:0051492 9.68 TTC8 BBS4
28 prostate gland development GO:0030850 9.68 SHH GLI3
29 striatum development GO:0021756 9.68 BBS4 BBS2
30 negative thymic T cell selection GO:0045060 9.67 SHH GLI3
31 regulation of smoothened signaling pathway GO:0008589 9.67 MKS1 IFT81 IFT172
32 spinal cord motor neuron differentiation GO:0021522 9.67 SHH IFT172 GLI3 DYNC2H1
33 response to leptin GO:0044321 9.66 BBS4 BBS2
34 leptin-mediated signaling pathway GO:0033210 9.66 BBS4 BBS2
35 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 SHH GLI3
36 cell projection organization GO:0030030 9.65 WDR35 TTC8 NEK1 MKS1 IFT81 DYNC2LI1
37 artery development GO:0060840 9.63 SHH GLI3
38 intraciliary retrograde transport GO:0035721 9.63 WDR35 DYNC2LI1 DYNC2H1
39 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.61 BBS4 BBS2
40 spinal cord dorsal/ventral patterning GO:0021513 9.59 SHH GLI3
41 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.58 BBS4 BBS2
42 hindgut morphogenesis GO:0007442 9.57 SHH GLI3
43 sensory processing GO:0050893 9.55 TTC8 BBS4
44 negative regulation of alpha-beta T cell differentiation GO:0046639 9.54 SHH GLI3
45 cilium assembly GO:0060271 9.44 WDR35 TTC8 TCTEX1D2 NEK1 MKS1 IFT81

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.25 WDR35 TTC8 TCTEX1D2 SHH NEK1 MKS1
2 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.26 DYNC2LI1 DYNC2H1
3 dynein light chain binding GO:0045503 9.16 DYNC2I2 DYNC2I1
4 RNA polymerase II repressing transcription factor binding GO:0001103 9.13 TTC8 BBS4 BBS2
5 dynein heavy chain binding GO:0045504 8.8 DYNC2LI1 DYNC2I2 DYNC2I1

Sources for Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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