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PAPA1
MCID: PLY147
MIFTS: 56

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
Polydactyly, Postaxial 56 54 39 71
Postaxial Polydactyly 73 36 29 6
Postaxial Polydactyly Type a 58 73 71
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 polydactyly, postaxial, is related to weyers acrofacial dysostosis and ellis-van creveld 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 Hedgehog signaling pathway (KEGG). The drugs Immunologic Factors and Isotretinoin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and brain, 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 ????? (polys), meaning 'many', and ???????? (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 292)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 32.1 EVC2 EVC
2 ellis-van creveld syndrome 31.8 IQCE GLI3 EVC2 EVC
3 mckusick-kaufman syndrome 30.5 GLI3 BBS12
4 coloboma of macula 29.7 GLI3 CC2D2A BMP4
5 atrioventricular septal defect 29.2 EVC2 EVC BMP4
6 dysostosis 29.2 GLI3 EVC2 EVC
7 chromosome 2q35 duplication syndrome 29.1 TULP1 IQCE GLI3 EVC BMP4
8 atrial heart septal defect 29.1 EVC2 EVC BMP4
9 polydactyly 28.8 ZNF141 IQCE GLI3 FAM92A EVC2 EVC
10 preaxial deficiency, postaxial polydactyly, and hypospadias 12.9
11 dandy-walker malformation with postaxial polydactyly 12.8
12 bartsocas-papas syndrome 12.8
13 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.5
14 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.5
15 obsolete: postaxial polydactyly type a, unilateral 12.5
16 obsolete: postaxial polydactyly type a, bilateral 12.5
17 non-syndromic postaxial polydactyly 12.4
18 cortical blindness, retardation, and postaxial polydactyly 12.4
19 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.4
20 polydactyly, postaxial, type a2 12.4
21 acrocallosal syndrome 12.4
22 polydactyly, postaxial, with progressive myopia 12.4
23 polydactyly, postaxial, with dental and vertebral anomalies 12.4
24 obsolete: hypopituitarism-postaxial polydactyly syndrome 12.3
25 obsolete: mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome 12.3
26 obsolete: postaxial polydactyly type b, bilateral 12.3
27 obsolete: postaxial polydactyly type b, unilateral 12.3
28 obsolete: postaxial polydactyly of toes, unilateral 12.3
29 obsolete: postaxial polydactyly of toes, bilateral 12.3
30 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.3
31 culler-jones syndrome 12.3
32 pseudotrisomy 13 syndrome 12.2
33 oliver syndrome 12.1
34 kozlowski-krajewska syndrome 12.1
35 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.0
36 greig cephalopolysyndactyly syndrome 11.8
37 orofaciodigital syndrome v 11.7
38 ohdo syndrome, sbbys variant 11.6
39 bardet-biedl syndrome 6 11.6
40 polydactyly, postaxial, type a6 11.6
41 bardet-biedl syndrome 7 11.6
42 short-rib thoracic dysplasia 15 with polydactyly 11.6
43 bardet-biedl syndrome 21 11.6
44 hydrolethalus syndrome 2 11.6
45 megalencephaly-capillary malformation-polymicrogyria syndrome 11.5
46 tibia, hypoplasia or aplasia of, with polydactyly 11.5
47 synpolydactyly 1 11.4
48 joubert syndrome 14 11.4
49 biemond syndrome ii 11.3
50 garret tripp syndrome 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 craniofacial MP:0005382 9.8 BMP4 CC2D2A EP300 EVC EVC2 GLI3
2 hearing/vestibular/ear MP:0005377 9.65 ATP6V1B1 BMP4 CC2D2A GLI3 TULP1
3 limbs/digits/tail MP:0005371 9.63 BMP4 CC2D2A EVC EVC2 FAM92A GLI3
4 renal/urinary system MP:0005367 9.5 ATP6V1B1 BBS12 BMP4 CC2D2A EP300 GLI3
5 skeleton MP:0005390 9.28 ATP6V1B1 BBS12 BMP4 EVC EVC2 FAM92A
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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 1, Phase 2
2
Isotretinoin Approved 4759-48-2 5538 5282379
3
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
4
Iloprost Approved, Investigational 78919-13-8 6443959
5
Nifedipine Approved 21829-25-4 4485
6
Calcium Approved, Nutraceutical 7440-70-2 271
7 Liver Extracts
8 Dermatologic Agents
9 Anesthetics
10 Tocolytic Agents
11 Pharmaceutical Solutions
12 Platelet Aggregation Inhibitors
13 Vasodilator Agents
14 Calcium, Dietary
15 calcium channel blockers
16 Hormones
17 Hemostatics
18 Coagulants

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Phase I Trial: T4 Immunotherapy of Head and Neck Cancer Recruiting NCT01818323 Phase 1, Phase 2
2 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
3 Schnitzler Syndrome: Clinical Study, Physiopathological and Search for Genetic Completed NCT00933296
4 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
5 Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment Completed NCT01727440
6 Transforming Research and Clinical Knowledge in Traumatic Brain Injury Pilot Completed NCT01565551
7 Molecular Epidemiology of Cutaneous Malignant Melanoma Completed NCT00341991
8 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
9 EMMI - Emättimen Mikrobiomi - Emättimen ja Suun Limakalvojen Vuorovaikutus Recruiting NCT02898818
10 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
11 Bergamo Lymphoid Cancer Registry Recruiting NCT03131531
12 Adolescent Coordinated Transition (ACT) to Improve Health Outcomes Among Nigerian HIV+ Youth Recruiting NCT03152006
13 Ex Vivo Lung Perfusion in Bergamo Lung Transplant Program: A Prospective Observational Study Recruiting NCT03053349
14 Regional Grafting of Autologous Adipose Tissue in the Treatment of Systemic Sclerosis Digital Ulcers: a Prospective Randomized Controlled Study Recruiting NCT03406988
15 Von Willebrand Antigen and Activity as Novel Biomarkers of Hemostasis in Inflammatory Bowel Disease Not yet recruiting NCT03715673

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
Sources

Anatomical Context for Polydactyly, Postaxial, Type A1

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

40
Skin, Heart, Brain, Liver, Lung, Bone, Kidney
Sources

Publications for Polydactyly, Postaxial, Type A1

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Articles related to Polydactyly, Postaxial, Type A1:

(show top 50) (show all 581)
# 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. 61 56 6
22428873 2012
2
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 56 6
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 61 6
10441570 1999
4
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. 54 61 56
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
Lack of evidence of a major gene acting on postaxial polydactyly in South America. 61 56
9880210 1998
7
Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 61 56
7726178 1995
8
An Indian family with postaxial polydactyly in four generations. 61 56
7296946 1981
9
A and B postaxial polydactyly in two members of the same family. 61 56
7460370 1980
10
Postaxial polydactyly in three Indian families. 61 56
5801468 1969
11
Pierre Louis Moreau de Maupertuis (1698-1759). 56
3050101 1988
12
The study of genetic variation in Nigeria. II. The genetics of polydactyly. 56
955643 1976
13
Polydactyly: a genetic study in South America. 56
4716659 1973
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
Ellis-van Creveld syndrome. 54 61
17392984 2006
18
Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. 54 61
15778992 2005
19
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
20
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 54 61
15581864 2004
21
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. 54 61
12734547 2003
22
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. 54 61
11973619 2002
23
glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. 54 61
10964473 2000
24
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 54 61
10700184 2000
25
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. 54 61
10077605 1999
26
Mutation in GLI3 in postaxial polydactyly type A. 54 61
9354785 1997
27
Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B. 61
31549748 2020
28
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. 61
31549751 2020
29
Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. 61
31639430 2020
30
Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome. 61
31840411 2020
31
Birth prevalence of congenital anomalies in the City of Buenos Aires, Argentina, according to socioeconomic level. 61
31900751 2020
32
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. 61
31469663 2020
33
Variant metatarsal morphology causing metatarsal deformation in postaxial polydactyly. 61
30699465 2019
34
A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report. 61
31706290 2019
35
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(C.1957-2A>C) Mutation in GLI2 Gene 61
31782289 2019
36
Unique near-complete deletion of GLI2 in a patient with combined pituitary hormone deficiency and post-axial polydactyly. 61
31862539 2019
37
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly. 61
31621941 2019
38
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 61
31573334 2019
39
Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome? 61
31648526 2019
40
A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. 61
31152918 2019
41
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study. 61
31091006 2019
42
Postaxial polydactyly of the hand in Japanese patients: Case series reports. 61
30898504 2019
43
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. 61
31012281 2019
44
Is Epinephrine Safe for Infant Digit Excision? A Retrospective Review of 402 Polydactyly Excisions in Patients Younger than 6 Months. 61
31246822 2019
45
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 61
31022684 2019
46
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 61
31115189 2019
47
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. 61
30073714 2019
48
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. 61
30982135 2019
49
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. 61
30562203 2019
50
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. 61
30851085 2019
Sources

Variations for Polydactyly, Postaxial, Type A1

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

6 (show top 50) (show all 112) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS12 NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)SNV Pathogenic 1147 rs121918327 4:123664110-123664110 4:122742955-122742955
2 PSTPIP1 NM_003978.5(PSTPIP1):c.748G>C (p.Glu250Gln)SNV Pathogenic 4434 rs28939089 15:77324645-77324645 15:77032304-77032304
3 PSTPIP1 NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr)SNV Pathogenic 4435 rs121908130 15:77323566-77323566 15:77031225-77031225
4 GLI3 NM_000168.6(GLI3):c.2372del (p.Pro791fs)deletion Pathogenic 13827 7:42007253-42007253 7:41967655-41967655
5 GLI3 GLI3, CODON 764, FSundetermined variant Pathogenic 13816
6 GLI3 NM_000168.6(GLI3):c.3707del (p.Gly1236fs)deletion Pathogenic 13819 7:42004964-42004964 7:41965366-41965366
7 GLI3 NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)SNV Pathogenic 13820 rs121917709 7:42012112-42012112 7:41972513-41972513
8 TULP1 NM_003322.6(TULP1):c.1198C>T (p.Arg400Trp)SNV Pathogenic 30261 rs387906836 6:35471540-35471540 6:35503763-35503763
9 GLI3 NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs)deletion Pathogenic 39511 rs398122899 7:42018228-42018229 7:41978629-41978630
10 CC2D2A NM_001080522.2(CC2D2A):c.4179+1deldeletion Pathogenic 56312 rs386833760 4:15589552-15589552 4:15587929-15587929
11 PSTPIP1 NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)SNV Pathogenic 97810 rs28939089 15:77324645-77324645 15:77032304-77032304
12 GLI3 NM_000168.6(GLI3):c.2252del (p.Asp751fs)deletion Pathogenic 374325 rs1057518698 7:42007373-42007373 7:41967775-41967775
13 GLI3 NM_000168.6(GLI3):c.3635del (p.Gly1212fs)deletion Pathogenic 393462 rs1060499558 7:42005036-42005036 7:41965438-41965438
14 CC2D2A NM_001080522.2(CC2D2A):c.1149+1G>ASNV Pathogenic 523401 rs1553827236 4:15518380-15518380 4:15516757-15516757
15 KIAA0825 NM_001145678.2(KIAA0825):c.2173A>T (p.Lys725Ter)SNV Pathogenic 599402 5:93798165-93798165 5:94462460-94462460
16 KIAA0825 NM_173665.3(KIAA0825):c.591dup (p.Gln198fs)duplication Pathogenic 599403 5:93856331-93856332 5:94520626-94520627
17 IQCE NM_152558.5(IQCE):c.895_904del (p.Val301fs)deletion Pathogenic 638149 7:2625907-2625916 7:2586273-2586282
18 ATP6V1B1 NM_001692.4(ATP6V1B1):c.175-1G>CSNV Pathogenic 638151 2:71185175-71185175 2:70958045-70958045
19 IQCE NM_152558.5(IQCE):c.1350_1353del (p.Glu451Argfs)short repeat Pathogenic 638150 7:2634518-2634521 7:2594884-2594887
20 EP300 NC_000022.11:g.41150384_41156982delinsTGindel Pathogenic 691277
21 DHX34 NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)SNV Likely pathogenic 691941 19:47856753-47856753 19:47353496-47353496
22 PSTPIP1 NM_003978.5(PSTPIP1):c.657A>G (p.Gln219=)SNV Conflicting interpretations of pathogenicity 507898 rs139362350 15:77323535-77323535 15:77031194-77031194
23 PSTPIP1 NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=)SNV Conflicting interpretations of pathogenicity 317176 rs370782742 15:77321908-77321908 15:77029567-77029567
24 PSTPIP1 NM_003978.5(PSTPIP1):c.856A>G (p.Asn286Asp)SNV Conflicting interpretations of pathogenicity 317181 rs377437961 15:77325220-77325220 15:77032879-77032879
25 PSTPIP1 NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys)SNV Conflicting interpretations of pathogenicity 242307 rs201253322 15:77329479-77329479 15:77037138-77037138
26 PSTPIP1 NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly)SNV Conflicting interpretations of pathogenicity 242305 rs200771233 15:77329417-77329417 15:77037076-77037076
27 PSTPIP1 NM_003978.5(PSTPIP1):c.59C>T (p.Thr20Met)SNV Conflicting interpretations of pathogenicity 317170 rs553718554 15:77310511-77310511 15:77018170-77018170
28 GLI3 NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)SNV Conflicting interpretations of pathogenicity 13821 rs121917710 7:42007446-42007446 7:41967848-41967848
29 PSTPIP1 NM_003978.5(PSTPIP1):c.1208G>A (p.Gly403Glu)SNV Uncertain significance 242306 rs201572812 15:77329474-77329474 15:77037133-77037133
30 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)SNV Uncertain significance 265182 rs772839719 7:42005553-42005553 7:41965955-41965955
31 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)SNV Uncertain significance 265180 rs376725882 7:42187951-42187951 7:42148352-42148352
32 PSTPIP1 NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile)SNV Uncertain significance 280941 rs886041107 15:77320202-77320202 15:77027861-77027861
33 PSTPIP1 NM_003978.5(PSTPIP1):c.1079C>T (p.Pro360Leu)SNV Uncertain significance 317184 rs768897476 15:77328236-77328236 15:77035895-77035895
34 PSTPIP1 NM_003978.5(PSTPIP1):c.-367G>ASNV Uncertain significance 317165 rs886051490 15:77287548-77287548 15:76995207-76995207
35 PSTPIP1 NM_003978.5(PSTPIP1):c.-124C>TSNV Uncertain significance 317168 rs760819203 15:77287791-77287791 15:76995450-76995450
36 PSTPIP1 NM_003978.5(PSTPIP1):c.326G>A (p.Arg109His)SNV Uncertain significance 317172 rs772315853 15:77317917-77317917 15:77025576-77025576
37 PSTPIP1 NM_003978.5(PSTPIP1):c.475G>C (p.Glu159Gln)SNV Uncertain significance 317174 rs886051493 15:77320952-77320952 15:77028611-77028611
38 PSTPIP1 NM_003978.5(PSTPIP1):c.629G>A (p.Arg210Gln)SNV Uncertain significance 317178 rs776576205 15:77322909-77322909 15:77030568-77030568
39 GLI3 NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)SNV Uncertain significance 435332 rs1554304659 7:42005387-42005387 7:41965789-41965789
40 PSTPIP1 NM_003978.5(PSTPIP1):c.1120-9C>GSNV Uncertain significance 466413 rs747139033 15:77329377-77329377 15:77037036-77037036
41 PSTPIP1 NM_003978.5(PSTPIP1):c.212+5G>ASNV Uncertain significance 466414 rs1280331114 15:77310877-77310877 15:77018536-77018536
42 PSTPIP1 NM_003978.5(PSTPIP1):c.586G>A (p.Ala196Thr)SNV Uncertain significance 317177 rs758911910 15:77322866-77322866 15:77030525-77030525
43 PSTPIP1 NM_003978.5(PSTPIP1):c.*123T>CSNV Uncertain significance 317195 rs886051494 15:77329640-77329640 15:77037299-77037299
44 PSTPIP1 NM_003978.5(PSTPIP1):c.-280_-276GCTGG[3]short repeat Uncertain significance 317166 rs886051491 15:77287632-77287633 15:76995291-76995292
45 PSTPIP1 NM_003978.5(PSTPIP1):c.418-4_418-3deldeletion Uncertain significance 317173 rs749862420 15:77320888-77320889 15:77028547-77028548
46 PSTPIP1 NM_003978.5(PSTPIP1):c.355-4G>ASNV Uncertain significance 800833 15:77320189-77320189 15:77027848-77027848
47 PSTPIP1 NM_003978.5(PSTPIP1):c.22A>G (p.Lys8Glu)SNV Uncertain significance 650400 15:77287936-77287936 15:76995595-76995595
48 PSTPIP1 NM_003978.5(PSTPIP1):c.50C>T (p.Thr17Ile)SNV Uncertain significance 665673 15:77310502-77310502 15:77018161-77018161
49 PSTPIP1 NM_003978.5(PSTPIP1):c.432C>G (p.Tyr144Ter)SNV Uncertain significance 656174 15:77320909-77320909 15:77028568-77028568
50 PSTPIP1 NM_003978.5(PSTPIP1):c.445del (p.Arg149fs)deletion Uncertain significance 656981 15:77320921-77320921 15:77028580-77028580

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

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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
 11.8 IQCE GLI3 EVC2 EVC
2
Hedgehog signaling pathway (KEGG) 36
10.5 GLI3 EVC2 EVC
Sources

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 9.61 TULP1 PSTPIP1 IQCE GLI3 FAM92A EVC2
2 ciliary membrane GO:0060170 9.33 IQCE EVC2 EVC
3 plasma membrane protein complex GO:0098797 9.26 EVC2 EVC
4 cilium GO:0005929 9.23 TULP1 IQCE GLI3 FAM92A EVC2 EVC

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.56 GLI3 EP300 CC2D2A BMP4
2 lung development GO:0030324 9.5 GLI3 EP300 BMP4
3 neuron fate commitment GO:0048663 9.49 GLI3 BMP4
4 telencephalon development GO:0021537 9.48 GLI3 BMP4
5 branching morphogenesis of an epithelial tube GO:0048754 9.46 GLI3 BMP4
6 camera-type eye morphogenesis GO:0048593 9.43 GLI3 BMP4
7 embryonic morphogenesis GO:0048598 9.4 GLI3 BMP4
8 anatomical structure formation involved in morphogenesis GO:0048646 9.37 GLI3 BMP4
9 camera-type eye development GO:0043010 9.33 GLI3 CC2D2A BMP4
10 limb morphogenesis GO:0035108 9.26 ZNF141 IQCE GLI3 FAM92A
11 smoothened signaling pathway GO:0007224 9.02 GLI3 EVC2 EVC CC2D2A BMP4
Sources

Sources for Polydactyly, Postaxial, Type A1

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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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