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PAPA1
MCID: PLY147
MIFTS: 57

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

About this section

MalaCards integrated aliases for Polydactyly, Postaxial, Type A1:

Name: Polydactyly, Postaxial, Type A1 57 40
Polydactyly, Postaxial 57 55 40 72
Postaxial Polydactyly 74 37 29 6
Postaxial Polydactyly Type a 59 74 72
Polydactyly, Postaxial, Types A1 and B 57 13
Postaxial Polydactyly, Type a 57 55
Papa1 57 74
Papa 57 74
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 72
Postaxial Polydactyly, Type a; Papa 57
Postaxial Polydactyly, Type A1/b 6
Polydactyly, Postaxial, Type a 40
Postaxial Polydactyly, Type B 72
Postaxial Polydactyly Type B 59
Polydactyly, Postaxial A1 74
Polydactyly, Postaxial B 74
Postaxial Polydactyly B 6
Polydactyly Postaxial 75
Papb 74

Characteristics:

Orphanet epidemiological data:

59
postaxial polydactyly type a
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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: 34
Orphanet: 59  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 37 H01852
MeSH 44 D017689
ICD10 via Orphanet 34 Q69.0
UMLS via Orphanet 73 C1868120 C3887487
UMLS 72 C0220697 C1858361 C1868120 more
Sources

Summaries for Polydactyly, Postaxial, Type A1

About this section
KEGG : 37
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 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 is Signaling by Hedgehog. The drugs Immunologic Factors and Tolnaftate have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and lung, and related phenotypes are broad thumb and triphalangeal thumb

OMIM : 57 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 : 74 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 : 75 Polydactyly or polydactylism (from Greek ????? (polys), meaning 'many', and ???????? (daktylos), meaning... more...

Sources

Related Diseases for Polydactyly, Postaxial, Type A1

About this section

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 284)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 32.1 EVC2 EVC
2 mckusick-kaufman syndrome 30.9 GLI3 BBS12
3 polydactyly 30.6 ZNF141 GLI3 EVC
4 talipes equinovarus 30.5 GLI3 CC2D2A
5 acrofacial dysostosis 29.5 EVC2 EVC
6 atrioventricular septal defect 29.0 EVC2 EVC
7 dandy-walker malformation with postaxial polydactyly 12.8
8 preaxial deficiency, postaxial polydactyly, and hypospadias 12.8
9 bartsocas-papas syndrome 12.8
10 scalp defects and postaxial polydactyly 12.8
11 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.5
12 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.5
13 obsolete: postaxial polydactyly type a, unilateral 12.5
14 obsolete: postaxial polydactyly type a, bilateral 12.5
15 non-syndromic postaxial polydactyly 12.4
16 cortical blindness, retardation, and postaxial polydactyly 12.4
17 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.4
18 polydactyly, postaxial, type a2 12.4
19 polydactyly, postaxial, type a10 12.4
20 acrocallosal syndrome 12.3
21 polydactyly, postaxial, with progressive myopia 12.3
22 polydactyly, postaxial, with dental and vertebral anomalies 12.3
23 obsolete: hypopituitarism-postaxial polydactyly syndrome 12.3
24 obsolete: mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome 12.3
25 obsolete: postaxial polydactyly type b, bilateral 12.3
26 obsolete: postaxial polydactyly type b, unilateral 12.3
27 obsolete: postaxial polydactyly of toes, unilateral 12.3
28 obsolete: postaxial polydactyly of toes, bilateral 12.3
29 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.3
30 culler-jones syndrome 12.3
31 oliver syndrome 12.1
32 pseudotrisomy 13 syndrome 12.1
33 kozlowski-krajewska syndrome 12.1
34 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 12.0
35 ellis-van creveld syndrome 11.9
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 synpolydactyly 1 11.4
46 megalencephaly-capillary malformation-polymicrogyria syndrome 11.4
47 joubert syndrome 14 11.4
48 tibia, hypoplasia or aplasia of, with polydactyly 11.3
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
Sources

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

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Human phenotypes related to Polydactyly, Postaxial, Type A1:

32
# Description HPO Frequency HPO Source Accession
1 broad thumb 32 occasional (7.5%) HP:0011304
2 triphalangeal thumb 32 occasional (7.5%) HP:0001199
3 syndactyly 32 occasional (7.5%) HP:0001159
4 postaxial hand polydactyly 32 HP:0001162
5 preaxial polydactyly 32 HP:0100258

Symptoms via clinical synopsis from OMIM:

57
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.35 BMP4 CC2D2A EVC EVC2 GLI3
2 limbs/digits/tail MP:0005371 9.02 BMP4 CC2D2A EVC EVC2 GLI3
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
Tolnaftate Approved, Investigational, Vet_approved 2398-96-1 5510
3
Isotretinoin Approved 4759-48-2 5282379 5538
4
Nifedipine Approved 21829-25-4 4485
5
Iloprost Approved, Investigational 78919-13-8 6443959
6
Calcium Approved, Nutraceutical 7440-70-2 271
7 Dermatologic Agents
8 Liver Extracts
9 Hormones
10 Pharmaceutical Solutions
11 Tocolytic Agents
12 Platelet Aggregation Inhibitors
13 Vasodilator Agents
14 calcium channel blockers
15 Calcium, Dietary
16 Anesthetics
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 Identifying the Genetic Predictors of Severe Acne Vulgaris and the Outcome of Oral Isotretinoin Treatment Completed NCT01727440
5 Molecular Epidemiology of Cutaneous Malignant Melanoma Completed NCT00341991
6 Transforming Research and Clinical Knowledge in Traumatic Brain Injury Pilot Completed NCT01565551
7 Genetics and Pathophysiology of Autoinflammatory Disorders. Recruiting NCT00001373
8 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
9 EMMI - Emättimen Mikrobiomi - Emättimen ja Suun Limakalvojen Vuorovaikutus Recruiting NCT02898818
10 Bergamo Lymphoid Cancer Registry Recruiting NCT03131531
11 Adolescent Coordinated Transition (ACT) to Improve Health Outcomes Among Nigerian HIV+ Youth Recruiting NCT03152006
12 Ex Vivo Lung Perfusion in Bergamo Lung Transplant Program: A Prospective Observational Study Recruiting NCT03053349
13 Regional Grafting of Autologous Adipose Tissue in the Treatment of Systemic Sclerosis Digital Ulcers: a Prospective Randomized Controlled Study Recruiting NCT03406988
14 Paraplegia Prevention in Aortic Aneurysm Repair by Thoracoabdominal Staging With 'Minimally-Invasive Segmental Artery Coil-Embolization': A Randomized Controlled Multicentre Trial - PAPA-ARTiS Not yet recruiting NCT03434314
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 29 GLI3
Sources

Anatomical Context for Polydactyly, Postaxial, Type A1

About this section

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

41
Skin, Heart, Lung, Bone, Brain, Liver, Kidney
Sources

Publications for Polydactyly, Postaxial, Type A1

About this section

Articles related to Polydactyly, Postaxial, Type A1:

(show top 50) (show all 568)
# 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. 38 8 71
22428873 2012
2
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 8 71
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. 9 38 71
10441570 1999
4
Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. 9 38 8
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. 38 8
21877132 2012
6
Lack of evidence of a major gene acting on postaxial polydactyly in South America. 38 8
9880210 1998
7
Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 38 8
7726178 1995
8
An Indian family with postaxial polydactyly in four generations. 38 8
7296946 1981
9
A and B postaxial polydactyly in two members of the same family. 38 8
7460370 1980
10
Postaxial polydactyly in three Indian families. 38 8
5801468 1969
11
Pierre Louis Moreau de Maupertuis (1698-1759). 8
3050101 1988
12
The study of genetic variation in Nigeria. II. The genetics of polydactyly. 8
955643 1976
13
Polydactyly: a genetic study in South America. 8
4716659 1973
14
A pedigree of extra-digit-V polydactyly in a Batutsi family. 8
13782730 1961
15
A note on race-specific congenital malformation rates. 8
13824672 1960
16
Maupertuis and the beginnings of genetics. 8
20264553 1947
17
Ellis-van Creveld syndrome. 9 38
17392984 2006
18
Studies on epidermal growth factor receptor signaling in vertebrate limb patterning. 9 38
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. 9 38
15390181 2005
20
Bmp4 in limb bud mesoderm regulates digit pattern by controlling AER development. 9 38
15581864 2004
21
A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34. 9 38
12734547 2003
22
Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a Chinese kindred. 9 38
11973619 2002
23
glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. 9 38
10964473 2000
24
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. 9 38
10700184 2000
25
GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization. 9 38
10077605 1999
26
Mutation in GLI3 in postaxial polydactyly type A. 9 38
9354785 1997
27
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study. 38
31091006 2019
28
A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. 38
31152918 2019
29
Postaxial polydactyly of the hand in Japanese patients: Case series reports. 38
30898504 2019
30
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. 38
31012281 2019
31
Is Epinephrine Safe for Infant Digit Excision? A Retrospective Review of 402 Polydactyly Excisions in Patients Younger than 6 Months. 38
31246822 2019
32
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 38
31115189 2019
33
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. 38
30073714 2019
34
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. 38
31022684 2019
35
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. 38
30982135 2019
36
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. 38
30562203 2019
37
A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. 38
30851085 2019
38
Female-restricted syndromic intellectual disability in a patient from Thailand. 38
30828969 2019
39
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. 38
30954069 2019
40
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 38
30614526 2019
41
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. 38
30739122 2019
42
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. 38
30395363 2019
43
Variant metatarsal morphology causing metatarsal deformation in postaxial polydactyly. 38
30699465 2019
44
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 38
30761183 2019
45
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient. 38
30886724 2019
46
Accurate Osteotomy for the Treatment of a Rare Case of Postaxial Polydactyly of the Foot That Originated From a Deformed Calcaneus Using a 3D-Printed Guiding Plate. 38
30448182 2019
47
Ellis-Van Creveld Syndrome and Dandy-Walker Malformation: An Uncommon Association. 38
30556660 2018
48
To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision. 38
30417703 2018
49
Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses. 38
30328679 2018
50
Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound. 38
30342663 2018
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 110)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GLI3 NM_000168.6(GLI3): c.2252del (p.Asp751fs) deletion Pathogenic rs1057518698 7:42007373-42007373 7:41967775-41967775
2 GLI3 NM_000168.6(GLI3): c.3635del (p.Gly1212fs) deletion Pathogenic rs1060499558 7:42005036-42005036 7:41965438-41965438
3 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic rs1553827236 4:15518380-15518380 4:15516757-15516757
4 BBS12 NM_001178007.1(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 4:123664110-123664110 4:122742955-122742955
5 PSTPIP1 NM_003978.5(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 15:77324645-77324645 15:77032304-77032304
6 PSTPIP1 NM_003978.5(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 15:77323566-77323566 15:77031225-77031225
7 GLI3 GLI3, CODON 764, FS undetermined variant Pathogenic
8 GLI3 GLI3, 1-BP DEL, 3707G deletion Pathogenic
9 GLI3 NM_000168.6(GLI3): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs121917709 7:42012112-42012112 7:41972513-41972513
10 GLI3 GLI3, 1-BP DEL, 2372C deletion Pathogenic
11 GLI3 NM_000168.6(GLI3): c.1616_1617del (p.Arg539fs) deletion Pathogenic rs398122899 7:42018228-42018229 7:41978629-41978630
12 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 4:15589553-15589553 4:15587930-15587930
13 PSTPIP1 NM_003978.5(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 15:77324645-77324645 15:77032304-77032304
14 KIAA0825 NM_001145678.2(KIAA0825): c.2173A> T (p.Lys725Ter) single nucleotide variant Pathogenic 5:93798165-93798165 5:94462460-94462460
15 KIAA0825 NM_173665.3(KIAA0825): c.591dup (p.Gln198fs) duplication Pathogenic 5:93856332-93856332 5:94520627-94520627
16 PSTPIP1 NM_003978.5(PSTPIP1): c.555C> T (p.Thr185=) single nucleotide variant Conflicting interpretations of pathogenicity rs370782742 15:77321908-77321908 15:77029567-77029567
17 PSTPIP1 NM_003978.5(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 15:77329479-77329479 15:77037138-77037138
18 PSTPIP1 NM_003978.5(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 15:77329417-77329417 15:77037076-77037076
19 GLI3 NM_000168.6(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 7:42007446-42007446 7:41967848-41967848
20 PSTPIP1 NM_003978.5(PSTPIP1): c.1207G> C (p.Gly403Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs369113632 15:77329473-77329473 15:77037132-77037132
21 PSTPIP1 NM_003978.5(PSTPIP1): c.657A> G (p.Gln219=) single nucleotide variant Conflicting interpretations of pathogenicity rs139362350 15:77323535-77323535 15:77031194-77031194
22 PSTPIP1 NM_003978.5(PSTPIP1): c.59C> T (p.Thr20Met) single nucleotide variant Conflicting interpretations of pathogenicity rs553718554 15:77310511-77310511 15:77018170-77018170
23 PSTPIP1 NM_003978.5(PSTPIP1): c.856A> G (p.Asn286Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs377437961 15:77325220-77325220 15:77032879-77032879
24 PSTPIP1 NM_003978.5(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 15:77329474-77329474 15:77037133-77037133
25 GLI3 NM_000168.6(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 7:42005553-42005553 7:41965955-41965955
26 GLI3 NM_000168.6(GLI3): c.241G> A (p.Glu81Lys) single nucleotide variant Uncertain significance rs376725882 7:42187951-42187951 7:42148352-42148352
27 PSTPIP1 NM_003978.5(PSTPIP1): c.364G> A (p.Val122Ile) single nucleotide variant Uncertain significance rs886041107 15:77320202-77320202 15:77027861-77027861
28 PSTPIP1 NM_003978.5(PSTPIP1): c.1079C> T (p.Pro360Leu) single nucleotide variant Uncertain significance rs768897476 15:77328236-77328236 15:77035895-77035895
29 PSTPIP1 NM_003978.5(PSTPIP1): c.586G> A (p.Ala196Thr) single nucleotide variant Uncertain significance rs758911910 15:77322866-77322866 15:77030525-77030525
30 PSTPIP1 NM_003978.5(PSTPIP1): c.-367G> A single nucleotide variant Uncertain significance rs886051490 15:77287548-77287548 15:76995207-76995207
31 PSTPIP1 NM_003978.5(PSTPIP1): c.-124C> T single nucleotide variant Uncertain significance rs760819203 15:77287791-77287791 15:76995450-76995450
32 PSTPIP1 NM_003978.5(PSTPIP1): c.326G> A (p.Arg109His) single nucleotide variant Uncertain significance rs772315853 15:77317917-77317917 15:77025576-77025576
33 PSTPIP1 NM_003978.5(PSTPIP1): c.475G> C (p.Glu159Gln) single nucleotide variant Uncertain significance rs886051493 15:77320952-77320952 15:77028611-77028611
34 PSTPIP1 NM_003978.5(PSTPIP1): c.1120-9C> G single nucleotide variant Uncertain significance rs747139033 15:77329377-77329377 15:77037036-77037036
35 PSTPIP1 NM_003978.5(PSTPIP1): c.212+5G> A single nucleotide variant Uncertain significance rs1280331114 15:77310877-77310877 15:77018536-77018536
36 GLI3 NM_000168.6(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 7:42005387-42005387 7:41965789-41965789
37 OFD1 NM_003611.3(OFD1): c.1999G> A (p.Ala667Thr) single nucleotide variant Uncertain significance rs1394450537 X:13778578-13778578 X:13760459-13760459
38 PSTPIP1 NM_003978.5(PSTPIP1): c.797A> G (p.Asp266Gly) single nucleotide variant Uncertain significance rs1333618864 15:77324694-77324694 15:77032353-77032353
39 PSTPIP1 NM_003978.5(PSTPIP1): c.1222dup (p.Val408fs) duplication Uncertain significance rs1392091785 15:77329488-77329488 15:77037147-77037147
40 PSTPIP1 NM_003978.5(PSTPIP1): c.454G> C (p.Asp152His) single nucleotide variant Uncertain significance rs375932577 15:77320931-77320931 15:77028590-77028590
41 PSTPIP1 NM_003978.5(PSTPIP1): c.629G> A (p.Arg210Gln) single nucleotide variant Uncertain significance rs776576205 15:77322909-77322909 15:77030568-77030568
42 PSTPIP1 NM_003978.5(PSTPIP1): c.*123T> C single nucleotide variant Uncertain significance rs886051494 15:77329640-77329640 15:77037299-77037299
43 PSTPIP1 NM_003978.5(PSTPIP1): c.-280_-276GCTGG[3] short repeat Uncertain significance rs886051491 15:77287640-77287644 15:76995299-76995303
44 PSTPIP1 NM_003978.4(PSTPIP1): c.418-4_418-3del deletion Uncertain significance rs749862420 15:77320891-77320892 15:77028550-77028551
45 PSTPIP1 NC_000015.9: g.(?_77287895)_(77329537_?)dup duplication Uncertain significance 15:77287895-77329537 15:76995554-77037196
46 PSTPIP1 NM_003978.5(PSTPIP1): c.430T> G (p.Tyr144Asp) single nucleotide variant Uncertain significance 15:77320907-77320907 15:77028566-77028566
47 PSTPIP1 NM_003978.5(PSTPIP1): c.503A> G (p.Lys168Arg) single nucleotide variant Uncertain significance 15:77320980-77320980 15:77028639-77028639
48 PSTPIP1 NM_003978.5(PSTPIP1): c.584T> C (p.Ile195Thr) single nucleotide variant Uncertain significance 15:77322864-77322864 15:77030523-77030523
49 PSTPIP1 NM_003978.5(PSTPIP1): c.1144G> C (p.Ala382Pro) single nucleotide variant Uncertain significance 15:77329410-77329410 15:77037069-77037069
50 PSTPIP1 NM_003978.5(PSTPIP1): c.296G> T (p.Arg99Leu) single nucleotide variant Uncertain significance 15:77317887-77317887 15:77025546-77025546

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

74
# 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 66
Show member pathways
 11.46 IQCE GLI3 EVC2 EVC
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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 cilium GO:0005929 9.43 IQCE GLI3 EVC2 EVC CC2D2A BBS12
2 ciliary membrane GO:0060170 9.33 IQCE EVC2 EVC
3 ciliary base GO:0097546 9.32 GLI3 FAM92A
4 plasma membrane protein complex GO:0098797 9.26 EVC2 EVC
5 cell projection GO:0042995 9.23 PSTPIP1 IQCE GLI3 FAM92A EVC2 EVC

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 GLI3 CC2D2A BMP4
2 branching involved in ureteric bud morphogenesis GO:0001658 9.51 GLI3 BMP4
3 regulation of cell differentiation GO:0045595 9.49 GLI3 BMP4
4 metanephros development GO:0001656 9.48 GLI3 BMP4
5 telencephalon development GO:0021537 9.46 GLI3 BMP4
6 neuron fate commitment GO:0048663 9.43 GLI3 BMP4
7 branching morphogenesis of an epithelial tube GO:0048754 9.4 GLI3 BMP4
8 limb morphogenesis GO:0035108 9.37 ZNF141 GLI3
9 anatomical structure formation involved in morphogenesis GO:0048646 9.32 GLI3 BMP4
10 camera-type eye morphogenesis GO:0048593 9.26 GLI3 BMP4
11 embryonic morphogenesis GO:0048598 9.16 GLI3 BMP4
12 camera-type eye development GO:0043010 9.13 GLI3 CC2D2A BMP4
13 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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