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PAPA1
MCID: PLY147
MIFTS: 53

Polydactyly, Postaxial, Type A1 (PAPA1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Polydactyly, Postaxial, Type A1

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MalaCards integrated aliases for Polydactyly, Postaxial, Type A1:

Name: Polydactyly, Postaxial, Type A1 56 39
Postaxial Polydactyly Type a 58 73 6 71
Polydactyly, Postaxial 56 54 39 71
Postaxial Polydactyly 73 36 29 6
Polydactyly, Postaxial, Types A1 and B 56 13
Postaxial Polydactyly, Type a 56 54
Postaxial Polydactyly Type A1 29 6
Papa1 56 73
Papa 56 73
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 71
Postaxial Polydactyly, Type a; Papa 56
Postaxial Polydactyly, Type A1/b 6
Polydactyly, Postaxial, Type a 39
Postaxial Polydactyly, Type B 71
Postaxial Polydactyly Type B 58
Polydactyly, Postaxial A1 73
Polydactyly, Postaxial B 73
Postaxial Polydactyly B 6
Polydactyly Postaxial 74
Papb 73

Characteristics:

Orphanet epidemiological data:

58
postaxial polydactyly type a
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
polydactyly, postaxial, type a1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 174200
OMIM Phenotypic Series 56 PS174200
KEGG 36 H01852
MeSH 43 D017689
ICD10 via Orphanet 33 Q69.0
UMLS via Orphanet 72 C1868120 C3887487
UMLS 71 C0220697 C1858361 C1868120 more
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Summaries for Polydactyly, Postaxial, Type A1

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KEGG : 36 Postaxial polydactyly (PAP) is one of the commonest congenital malformations. Both isolated and syndromic forms of PAP have been reported. PAP is characterized by duplication of the fifth finger/toe on the ulnar/fibular side of hands/feet. A small projection of tissue or scar mark just below the proximal interphalangeal crease can also be the only clinical finding. PAP is clinically classified into type A (PAPA) with fully developed extra digit and type B (PAPB) with incompletely developed digit. PAPA is a genetically heterogeneous disorder and exhibits as either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may considered as a variant of PAPA1 in genetics.

MalaCards based summary : Polydactyly, Postaxial, Type A1, also known as postaxial polydactyly type a, is related to acrocallosal syndrome and mckusick-kaufman syndrome. An important gene associated with Polydactyly, Postaxial, Type A1 is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Signaling by Hedgehog and Translation Non-genomic (rapid) action of Androgen Receptor. The drugs Nifedipine and Iloprost have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are broad thumb and triphalangeal thumb

OMIM : 56 Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). (174200)

UniProtKB/Swiss-Prot : 73 Polydactyly, postaxial A1: A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal.
Polydactyly, postaxial B: A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin.

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

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Related Diseases for Polydactyly, Postaxial, Type A1

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Diseases in the Polydactyly, Postaxial, Type A1 family:

Polydactyly, Postaxial, Type A5 Polydactyly, Postaxial, Type A2
Polydactyly, Postaxial, Type A3 Polydactyly, Postaxial, Type A4
Polydactyly, Postaxial, Type A6 Polydactyly, Postaxial, Type A7
Polydactyly, Postaxial, Type A8 Polydactyly, Postaxial, Type A9
Polydactyly, Postaxial, Type A10

Diseases related to Polydactyly, Postaxial, Type A1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 298)
# Related Disease Score Top Affiliating Genes
1 acrocallosal syndrome 33.8 ZNF141 GLI3 CIBAR1
2 mckusick-kaufman syndrome 32.7 GLI3 EVC2 EVC BBS12
3 greig cephalopolysyndactyly syndrome 32.4 ZNF141 IQCE GLI3 GLI1 CIBAR1
4 weyers acrofacial dysostosis 32.1 IQCE EVC2 EVC
5 ellis-van creveld syndrome 31.6 IQCE GLI3 GLI1 EVC2 EVC
6 skin tag 30.4 IQCE GLI3
7 pallister-hall syndrome 30.3 ZNF141 GLI3 GLI1
8 bardet-biedl syndrome 29.5 TULP1 GLI3 GLI1 EVC CC2D2A BBS12
9 coloboma of macula 29.4 GLI3 CC2D2A BMP4
10 dysostosis 29.4 GLI3 EVC2 EVC
11 acrofacial dysostosis 29.4 IQCE EVC2 EVC
12 atrioventricular septal defect 29.2 EVC2 EVC BMP4
13 chromosome 2q35 duplication syndrome 29.2 TULP1 IQCE GLI3 EVC BMP4
14 atrial heart septal defect 29.1 EVC2 EVC BMP4
15 fundus dystrophy 28.9 TULP1 EVC CC2D2A BMP4 BBS12
16 polydactyly 28.2 ZNF141 KIAA0825 IQCE GLI3 GLI1 EVC2
17 preaxial deficiency, postaxial polydactyly, and hypospadias 12.9
18 dandy-walker malformation with postaxial polydactyly 12.9
19 bartsocas-papas syndrome 12.8
20 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.6
21 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.6
22 non-syndromic postaxial polydactyly 12.5
23 cortical blindness, retardation, and postaxial polydactyly 12.5
24 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.5
25 polydactyly, postaxial, type a2 12.4
26 polydactyly, postaxial, with progressive myopia 12.4
27 polydactyly, postaxial, with dental and vertebral anomalies 12.4
28 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.3
29 culler-jones syndrome 12.3
30 pseudotrisomy 13 syndrome 12.2
31 oliver syndrome 12.1
32 kozlowski-krajewska syndrome 12.1
33 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.0
34 orofaciodigital syndrome v 11.7
35 ohdo syndrome, sbbys variant 11.7
36 bardet-biedl syndrome 6 11.6
37 polydactyly, postaxial, type a6 11.6
38 bardet-biedl syndrome 7 11.6
39 short-rib thoracic dysplasia 15 with polydactyly 11.6
40 bardet-biedl syndrome 21 11.6
41 hydrolethalus syndrome 2 11.6
42 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
43 tibia, hypoplasia or aplasia of, with polydactyly 11.5
44 synpolydactyly 1 11.4
45 joubert syndrome 14 11.4
46 biemond syndrome ii 11.3
47 garret tripp syndrome 11.3
48 scalp defects and postaxial polydactyly 11.3
49 polydactyly, postaxial, type a7 11.3
50 polydactyly, postaxial, type a8 11.3

Graphical network of the top 20 diseases related to Polydactyly, Postaxial, Type A1:



Diseases related to Polydactyly, Postaxial, Type A1
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Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

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Human phenotypes related to Polydactyly, Postaxial, Type A1:

31
# Description HPO Frequency HPO Source Accession
1 broad thumb 31 occasional (7.5%) HP:0011304
2 triphalangeal thumb 31 occasional (7.5%) HP:0001199
3 syndactyly 31 occasional (7.5%) HP:0001159
4 postaxial hand polydactyly 31 HP:0001162
5 preaxial polydactyly 31 HP:0100258

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
preaxial polydactyly
postaxial polydactyly
syndactyly (in some patients)

Skeletal Hands:
postaxial polydactyly (bilateral, sometimes extra digits are well formed and articulated)
preaxial polydactyly (bilateral or unilateral)
triphalangeal thumb (in some patients)
syndactyly (in some patients)
broad thumbs (in some patients)

Clinical features from OMIM:

174200

MGI Mouse Phenotypes related to Polydactyly, Postaxial, Type A1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 BBS12 BCL11A BMP4 CC2D2A EP300 EVC
2 growth/size/body region MP:0005378 10.06 BBS12 BMP4 CC2D2A EP300 EVC EVC2
3 craniofacial MP:0005382 9.91 BMP4 CC2D2A EP300 EVC EVC2 GLI1
4 nervous system MP:0003631 9.85 ATP6V1B1 BBS12 BCL11A BMP4 CC2D2A EP300
5 limbs/digits/tail MP:0005371 9.8 BMP4 CC2D2A CIBAR1 EVC EVC2 GLI1
6 renal/urinary system MP:0005367 9.56 ATP6V1B1 BBS12 BMP4 CC2D2A EP300 GLI1
7 skeleton MP:0005390 9.28 ATP6V1B1 BBS12 BMP4 CIBAR1 EVC EVC2
Sources

Drugs & Therapeutics for Polydactyly, Postaxial, Type A1

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Drugs for Polydactyly, Postaxial, Type A1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nifedipine Approved 21829-25-4 4485
2
Iloprost Approved, Investigational 78919-13-8 6443959
3
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
4
Isotretinoin Approved 4759-48-2 5282379 5538
5 Siltuximab Approved, Investigational 541502-14-1
6 Hormones
7 Pharmaceutical Solutions
8 Vasodilator Agents
9 Platelet Aggregation Inhibitors
10 Tocolytic Agents
11 Calcium, Dietary
12 calcium channel blockers
13 Liver Extracts
14 Anesthetics
15 Hemostatics
16
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Phase I Trial: T4 Immunotherapy of Head and Neck Cancer Recruiting NCT01818323 Phase 1, Phase 2
2 Regional Grafting of Autologous Adipose Tissue in the Treatment of Systemic Sclerosis Digital Ulcers: a Prospective Randomized Controlled Study Unknown status NCT03406988
3 A Pilot Randomised Controlled Trial to Determine the Feasibility, Acceptability and Effectiveness of a CBT Based Online Intervention to Address Practical and Perceptual Barriers to Medication Adherence in Inflammatory Bowel Disease. Unknown status NCT01852097
4 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
5 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
6 Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment Completed NCT01727440
7 An Observational Study of the Use of Siltuximab (SYLVANT) in Patients Diagnosed With COVID-19 Infection Who Have Developed Serious Respiratory Complications Completed NCT04322188
8 Molecular Epidemiology of Cutaneous Malignant Melanoma Completed NCT00341991
9 Transforming Research and Clinical Knowledge in Traumatic Brain Injury Pilot Completed NCT01565551
10 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
11 EMMI - Emättimen Mikrobiomi - Emättimen ja Suun Limakalvojen Vuorovaikutus Recruiting NCT02898818
12 Paraplegia Prevention in Aortic Aneurysm Repair by Thoracoabdominal Staging With 'Minimally-Invasive Segmental Artery Coil-Embolization': A Randomized Controlled Multicentre Trial - PAPA-ARTiS Recruiting NCT03434314
13 Bergamo Lymphoid Cancer Registry Recruiting NCT03131531
14 Adolescent Coordinated Transition (ACT) to Improve Health Outcomes Among Nigerian HIV+ Youth Recruiting NCT03152006
15 Pathology and Pathogenesis of Cardiac Injury in COVID-19 Infections in Humans Recruiting NCT04367792
16 Ex Vivo Lung Perfusion in Bergamo Lung Transplant Program: A Prospective Observational Study Recruiting NCT03053349
17 Von Willebrand Antigen and Activity as Novel Biomarkers of Hemostasis in Inflammatory Bowel Disease Recruiting NCT03715673
18 Effects of Mindfulness Therapy in Patients With Acromegaly and in Patients With Cushing's Syndrome Not yet recruiting NCT04420000

Search NIH Clinical Center for Polydactyly, Postaxial, Type A1

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Genetic Tests for Polydactyly, Postaxial, Type A1

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Genetic tests related to Polydactyly, Postaxial, Type A1:

# Genetic test Affiliating Genes
1 Postaxial Polydactyly Type A1 29 GLI3
2 Postaxial Polydactyly 29
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Anatomical Context for Polydactyly, Postaxial, Type A1

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MalaCards organs/tissues related to Polydactyly, Postaxial, Type A1:

40
Skin, Lung, Bone, Brain, Liver
Sources

Publications for Polydactyly, Postaxial, Type A1

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Articles related to Polydactyly, Postaxial, Type A1:

(show all 43)
# Title Authors PMID Year
1
A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. 56 6
22428873 2012
2
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 6 56
18000979 2007
3
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 6 61
10441570 1999
4
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. 56 54 61
9042919 1997
5
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. 61 56
21877132 2012
6
An Indian family with postaxial polydactyly in four generations. 56 61
7296946 1981
7
Lack of evidence of a major gene acting on postaxial polydactyly in South America. 56
9880210 1998
8
Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 56
7726178 1995
9
Pierre Louis Moreau de Maupertuis (1698-1759). 56
3050101 1988
10
A and B postaxial polydactyly in two members of the same family. 56
7460370 1980
11
The study of genetic variation in Nigeria. II. The genetics of polydactyly. 56
955643 1976
12
Polydactyly: a genetic study in South America. 56
4716659 1973
13
Postaxial polydactyly in three Indian families. 56
5801468 1969
14
A pedigree of extra-digit-V polydactyly in a Batutsi family. 56
13782730 1961
15
A note on race-specific congenital malformation rates. 56
13824672 1960
16
Maupertuis and the beginnings of genetics. 56
20264553 1947
17
Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes. 54 61
15390181 2005
18
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. 61 54
12734547 2003
19
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. 54 61
11973619 2002
20
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. 61 54
10077605 1999
21
Mutation in GLI3 in postaxial polydactyly type A. 54 61
9354785 1997
22
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A. 61
32147526 2020
23
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 61
31115189 2019
24
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. 61
30395363 2019
25
Polydactyly, postaxial, type B. 61
29377639 2018
26
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. 61
23160277 2013
27
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. 61
22903559 2012
28
Birth defects caused by mutations in human GLI3 and mouse Gli3 genes. 61
20201963 2010
29
Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? 61
17159509 2007
30
Ellis-van Creveld syndrome. 54
17392984 2006
31
Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. 54
15778992 2005
32
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 54
15581864 2004
33
Multiple congenital anomalies syndrome with multicystic renal dysplasia, postaxial polydactyly and lumbosacral meningocoele. Difficulties in nosological classification and genetic counseling. 61
12150214 2002
34
DACH: genomic characterization, evaluation as a candidate for postaxial polydactyly type A2, and developmental expression pattern of the mouse homologue. 61
11543628 2001
35
glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. 54
10964473 2000
36
Pallister-Hall Syndrome 61
20301638 2000
37
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 54
10700184 2000
38
Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). 61
10344311 1999
39
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. 61
7666393 1995
40
Postaxial polydactyly in association with neurofibromatosis. 61
3113782 1987
41
Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance. 61
4029956 1985
42
Congenital scalp defects associated with postaxial polydactyly. 61
468253 1979
43
Autosomal recessive postaxial polydactyly type A in a Sicilian family. 61
27639 1978
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Variations for Polydactyly, Postaxial, Type A1

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ClinVar genetic disease variations for Polydactyly, Postaxial, Type A1:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI3 NM_000168.6(GLI3):c.3635del (p.Gly1212fs)deletion Pathogenic 393462 rs1060499558 7:42005036-42005036 7:41965438-41965438
2 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>ASNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
3 KIAA0825 NM_001145678.2(KIAA0825):c.2173A>T (p.Lys725Ter)SNV Pathogenic 599402 5:93798165-93798165 5:94462460-94462460
4 KIAA0825 NM_173665.3(KIAA0825):c.591dup (p.Gln198fs)duplication Pathogenic 599403 5:93856331-93856332 5:94520626-94520627
5 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
6 ATP6V1B1 NM_001692.4(ATP6V1B1):c.175-1G>CSNV Pathogenic 638151 2:71185175-71185175 2:70958045-70958045
7 IQCE NM_152558.5(IQCE):c.1350_1353del (p.Glu451Argfs)short repeat Pathogenic 638150 7:2634518-2634521 7:2594884-2594887
8 EP300 NC_000022.11:g.41150384_41156982delinsTGindel Pathogenic 691277
9 BCL11A NM_022893.4(BCL11A):c.148C>T (p.Gln50Ter)SNV Pathogenic 872912
10 BBS12 NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)SNV Pathogenic 1147 rs121918327 4:123664110-123664110 4:122742955-122742955
11 GLI3 GLI3, CODON 764, FSundetermined variant Pathogenic 13816
12 GLI3 NM_000168.6(GLI3):c.3707del (p.Gly1236fs)deletion Pathogenic 13819 7:42004964-42004964 7:41965366-41965366
13 GLI3 NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)SNV Pathogenic 13820 rs121917709 7:42012112-42012112 7:41972513-41972513
14 GLI3 NM_000168.6(GLI3):c.2372del (p.Pro791fs)deletion Pathogenic 13827 7:42007253-42007253 7:41967655-41967655
15 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
16 GLI3 NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs)deletion Pathogenic 39511 rs398122899 7:42018228-42018229 7:41978629-41978630
17 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
18 GLI3 NM_000168.6(GLI3):c.2252del (p.Asp751fs)deletion Pathogenic 374325 rs1057518698 7:42007373-42007373 7:41967775-41967775
19 CIBAR1 NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)SNV Pathogenic/Likely pathogenic 592165 rs368652620 8:94722038-94722038 8:93709810-93709810
20 DHX34 NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)SNV Likely pathogenic 691941 19:47856753-47856753 19:47353496-47353496
21 GLI3 NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)SNV Conflicting interpretations of pathogenicity 13821 rs121917710 7:42007446-42007446 7:41967848-41967848
22 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)SNV Conflicting interpretations of pathogenicity 265180 rs376725882 7:42187951-42187951 7:42148352-42148352
23 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)SNV Uncertain significance 265182 rs772839719 7:42005553-42005553 7:41965955-41965955
24 OFD1 NM_003611.3(OFD1):c.1999G>A (p.Ala667Thr)SNV Uncertain significance 523463 rs1394450537 X:13778578-13778578 X:13760459-13760459
25 GLI3 NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)SNV Uncertain significance 435332 rs1554304659 7:42005387-42005387 7:41965789-41965789

UniProtKB/Swiss-Prot genetic disease variations for Polydactyly, Postaxial, Type A1:

73
# Symbol AA change Variation ID SNP ID
1 GLI3 p.Gly727Arg VAR_009876 rs121917710

Sources

Expression for Polydactyly, Postaxial, Type A1

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Search GEO for disease gene expression data for Polydactyly, Postaxial, Type A1.
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Pathways for Polydactyly, Postaxial, Type A1

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Pathways related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling by Hedgehog 65
Show member pathways
 11.89 IQCE GLI3 GLI1 EVC2 EVC
2
Translation Non-genomic (rapid) action of Androgen Receptor 22
Show member pathways
 11.78 GLI3 GLI1 EP300 BMP4
3
Hedgehog signaling pathway (KEGG) 36
10.62 GLI3 GLI1 EVC2 EVC
4
Hedgehog Signaling Pathway (WikiPathways) 1
Show member pathways
 10.54 GLI3 GLI1
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GO Terms for Polydactyly, Postaxial, Type A1

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Cellular components related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 TULP1 IQCE GLI3 EVC2 EVC CIBAR1
2 ciliary membrane GO:0060170 9.43 IQCE EVC2 EVC
3 ciliary base GO:0097546 9.33 GLI3 GLI1 CIBAR1
4 plasma membrane protein complex GO:0098797 9.32 EVC2 EVC
5 cilium GO:0005929 9.28 TULP1 IQCE GLI3 GLI1 EVC2 EVC

Biological processes related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.67 GLI3 EP300 CC2D2A BMP4
2 neuron fate commitment GO:0048663 9.54 GLI3 BMP4
3 telencephalon development GO:0021537 9.52 GLI3 BMP4
4 branching morphogenesis of an epithelial tube GO:0048754 9.51 GLI3 BMP4
5 camera-type eye development GO:0043010 9.5 GLI3 CC2D2A BMP4
6 proximal/distal pattern formation GO:0009954 9.49 GLI3 GLI1
7 camera-type eye morphogenesis GO:0048593 9.48 GLI3 BMP4
8 embryonic morphogenesis GO:0048598 9.46 GLI3 BMP4
9 lung development GO:0030324 9.46 GLI3 GLI1 EP300 BMP4
10 anatomical structure formation involved in morphogenesis GO:0048646 9.43 GLI3 BMP4
11 positive regulation of smoothened signaling pathway GO:0045880 9.43 GLI1 EVC CIBAR1
12 prostate gland development GO:0030850 9.4 GLI3 GLI1
13 limb morphogenesis GO:0035108 9.26 ZNF141 IQCE GLI3 CIBAR1
14 smoothened signaling pathway GO:0007224 9.1 GLI3 GLI1 EVC2 EVC CC2D2A BMP4

Molecular functions related to Polydactyly, Postaxial, Type A1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 ZNF141 GLI3 GLI1 EP300 BCL11A
Sources

Sources for Polydactyly, Postaxial, Type A1

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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