PAPB
MCID: PLY147
MIFTS: 48

Polydactyly, Postaxial, Type A1 (PAPB)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Polydactyly, Postaxial, Type A1

MalaCards integrated aliases for Polydactyly, Postaxial, Type A1:

Name: Polydactyly, Postaxial, Type A1 58
Polydactyly, Postaxial 58 56 41 74
Postaxial Polydactyly 76 38 30 6
Postaxial Polydactyly Type a 60 76 74
Polydactyly, Postaxial, Types A1 and B 58 13
Postaxial Polydactyly, Type a 58 56
Papa1 58 76
Papa 58 76
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 74
Postaxial Polydactyly, Type a; Papa 58
Polydactyly, Postaxial, Type A1 ) 41
Postaxial Polydactyly, Type A1/b 6
Postaxial Polydactyly, Type B 74
Postaxial Polydactyly Type B 60
Polydactyly, Postaxial A1 76
Polydactyly, Postaxial B 76
Postaxial Polydactyly B 6
Papb 76

Characteristics:

Orphanet epidemiological data:

60
postaxial polydactyly type a
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
polydactyly, postaxial, type a1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 174200
KEGG 38 H01852
MeSH 45 D017689
ICD10 via Orphanet 35 Q69.0
UMLS via Orphanet 75 C1868120 C3887487

Summaries for Polydactyly, Postaxial, Type A1

OMIM : 58 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)

MalaCards based summary : Polydactyly, Postaxial, Type A1, also known as polydactyly, postaxial, is related to mckusick-kaufman syndrome and weyers acrofacial dysostosis. 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 Pathway. Affiliated tissues include heart, skin and brain, and related phenotypes are broad thumb and triphalangeal thumb

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Polydactyly, Postaxial, Type A1

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

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 mckusick-kaufman syndrome 33.7 BBS12 GLI3
2 weyers acrofacial dysostosis 31.6 EVC EVC2
3 polydactyly 30.7 EVC GLI3 ZNF141
4 atrioventricular septal defect 29.6 EVC EVC2
5 dandy-walker malformation with postaxial polydactyly 12.7
6 preaxial deficiency, postaxial polydactyly, and hypospadias 12.7
7 scalp defects and postaxial polydactyly 12.7
8 bartsocas-papas syndrome 12.6
9 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.4
10 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.3
11 polydactyly, postaxial, type a5 12.3
12 polydactyly, postaxial, type a3 12.3
13 polydactyly, postaxial, type a4 12.3
14 polydactyly, postaxial, type a2 12.3
15 polydactyly, postaxial, with progressive myopia 12.3
16 polydactyly, postaxial, with dental and vertebral anomalies 12.3
17 cortical blindness, retardation, and postaxial polydactyly 12.2
18 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.2
19 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.2
20 culler-jones syndrome 12.2
21 acrocallosal syndrome 12.0
22 oliver syndrome 12.0
23 kozlowski-krajewska syndrome 12.0
24 pseudotrisomy 13 syndrome 11.8
25 ellis-van creveld syndrome 11.6
26 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.6
27 orofaciodigital syndrome v 11.6
28 polydactyly, postaxial, type a6 11.5
29 short-rib thoracic dysplasia 15 with polydactyly 11.5
30 hydrolethalus syndrome 2 11.4
31 greig cephalopolysyndactyly syndrome 11.3
32 synpolydactyly 1 11.3
33 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
34 joubert syndrome 14 11.3
35 tibia, hypoplasia or aplasia of, with polydactyly 11.2
36 biemond syndrome ii 11.2
37 ohdo syndrome, sbbys variant 11.2
38 garret tripp syndrome 11.2
39 polydactyly, postaxial, type a7 11.2
40 polydactyly, postaxial, type a8 11.2
41 polydactyly, postaxial, type a9 11.2
42 acrocephalopolydactylous dysplasia 11.1
43 orofaciodigital syndrome iii 11.1
44 orofaciodigital syndrome viii 11.1
45 mental retardation, x-linked 99, syndromic, female-restricted 11.1
46 meckel syndrome, type 2 11.1
47 bardet-biedl syndrome 6 11.1
48 cerebrooculonasal syndrome 11.1
49 lathosterolosis 11.1
50 meckel syndrome, type 3 11.1

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



Diseases related to Polydactyly, Postaxial, Type A1

Symptoms & Phenotypes for Polydactyly, Postaxial, Type A1

Human phenotypes related to Polydactyly, Postaxial, Type A1:

33
# Description HPO Frequency HPO Source Accession
1 broad thumb 33 occasional (7.5%) HP:0011304
2 triphalangeal thumb 33 occasional (7.5%) HP:0001199
3 syndactyly 33 occasional (7.5%) HP:0001159
4 postaxial hand polydactyly 33 HP:0001162
5 preaxial polydactyly 33 HP:0100258

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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

Drugs & Therapeutics for Polydactyly, Postaxial, Type A1

Search Clinical Trials , NIH Clinical Center for Polydactyly, Postaxial, Type A1

Genetic Tests for Polydactyly, Postaxial, Type A1

Genetic tests related to Polydactyly, Postaxial, Type A1:

# Genetic test Affiliating Genes
1 Postaxial Polydactyly 30 GLI3

Anatomical Context for Polydactyly, Postaxial, Type A1

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

42
Heart, Skin, Brain, Bone, Tongue, Pituitary, Kidney

Publications for Polydactyly, Postaxial, Type A1

Articles related to Polydactyly, Postaxial, Type A1:

(show top 50) (show all 129)
# Title Authors Year
1
Postaxial polydactyly of the hand in Japanese patients: Case series reports. ( 30898504 )
2019
2
An atypical case of Klippel-Trénaunay syndrome presenting with crossed-bilateral limb hypertrophy and postaxial polydactyly: a case report. ( 30954069 )
2019
3
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. ( 30982135 )
2019
4
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study. ( 31091006 )
2019
5
Variant metatarsal morphology causing metatarsal deformation in postaxial polydactyly. ( 30699465 )
2019
6
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. ( 30448182 )
2019
7
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. ( 30395363 )
2019
8
Polydactyly, postaxial, type B. ( 29377639 )
2018
9
A Novel Frameshift Mutation of GLI3 Causes Isolated Postaxial Polydactyly. ( 30562203 )
2018
10
To Tie or Not to Tie: A Systematic Review of Postaxial Polydactyly and Outcomes of Suture Ligation Versus Surgical Excision. ( 30417703 )
2018
11
A Novel CCND2 Mutation in a Previously Reported Case of Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus. ( 29642246 )
2018
12
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
13
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
14
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. ( 28315472 )
2017
15
Treatment of postaxial polydactyly with plantar plate and medial collateral ligament reconstruction after supernumerary excision: A case report. ( 29085641 )
2017
16
Management of Postaxial Polydactyly in the Neonatal Unit. ( 29084325 )
2017
17
Reply: Office-Based Postaxial Polydactyly Excision in Neonates, Infants, and Children. ( 28027268 )
2017
18
An unusual presentation of postaxial polydactyly of the foot. ( 27910230 )
2017
19
Office-Based Postaxial Polydactyly Excision in Neonates, Infants, and Children. ( 27643414 )
2017
20
Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. ( 28059850 )
2017
21
Primary On-top Plasty for Treatment of Short-type Postaxial Polydactyly of the Foot. ( 25389713 )
2016
22
Coexistence of left internal carotid agenesis, klippel-feil syndrome and postaxial polydactyly. ( 25806098 )
2015
23
Letter to the editor regarding: "Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients" Clinica Chimica acta 433 (2014) 195-199. ( 25869409 )
2015
24
GLI2 mutations typically result in pituitary anomalies with or without postaxial polydactyly. ( 25974718 )
2015
25
Review of literature: genes related to postaxial polydactyly. ( 25717468 )
2015
26
A Postaxial Polydactyly with a Partial Duplication of the Fifth Metatarsal Without a Supernumerary Digit. Is Excision of the Duplicated Metatarsal Necessary? ( 26146973 )
2015
27
An unusual case of postaxial polydactyly of the foot treated by metatarsal transfer. ( 24370483 )
2014
28
Rare presentation of foot postaxial polydactyly. ( 24636864 )
2014
29
Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients. ( 24667698 )
2014
30
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex. ( 25267529 )
2014
31
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
32
Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. ( 24092603 )
2013
33
Jejunal atresia and postaxial polydactyly: a newly recognized phenotype. ( 23722701 )
2013
34
Management of postaxial polydactyly by "Ksharsutra": A minimally invasive Ayurvedic parasurgical procedure. ( 23930044 )
2013
35
Retinoblastoma with unusual association of postaxial polydactyly. ( 23640512 )
2013
36
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region. ( 23639964 )
2013
37
Treatment of postaxial polydactyly type B. ( 23540414 )
2013
38
Toe component excision in postaxial polydactyly of the foot. ( 23449660 )
2013
39
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. ( 23160277 )
2013
40
An unusual case of fibular (postaxial) polydactyly: extrametatarsal head with fused duplication of the proximal phalanx. ( 22297105 )
2012
41
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. ( 22428873 )
2012
42
Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly. ( 22876577 )
2012
43
Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate genes. ( 21877132 )
2012
44
An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. ( 19941983 )
2010
45
Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly. ( 19672683 )
2009
46
Postaxial polydactyly. ( 20387358 )
2009
47
Hydrometrocolpos, postaxial polydactyly, and hypothalamic hamartoma in a patient with confirmed Pallister-Hall syndrome: a clinical overlap with McKusick-Kaufman syndrome. ( 18478223 )
2008
48
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. ( 18058629 )
2007
49
Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome? ( 17159509 )
2007
50
Four-generation postaxial polydactyly in a Chinese family. ( 17624276 )
2007

Variations for Polydactyly, Postaxial, Type A1

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

76
# Symbol AA change Variation ID SNP ID
1 GLI3 p.Gly727Arg VAR_009876 rs121917710

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

6 (show top 50) (show all 189)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh37 Chromosome 4, 123664110: 123664110
2 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh38 Chromosome 4, 122742955: 122742955
3 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
4 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> C (p.Glu250Gln) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
5 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh37 Chromosome 15, 77323566: 77323566
6 PSTPIP1 NM_003978.4(PSTPIP1): c.688G> A (p.Ala230Thr) single nucleotide variant Pathogenic rs121908130 GRCh38 Chromosome 15, 77031225: 77031225
7 GLI3 GLI3, CODON 764, FS undetermined variant Pathogenic
8 GLI3 GLI3, 1-BP DEL, 3707G deletion Pathogenic
9 GLI3 NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs121917709 GRCh37 Chromosome 7, 42012112: 42012112
10 GLI3 NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs121917709 GRCh38 Chromosome 7, 41972513: 41972513
11 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh37 Chromosome 7, 42007446: 42007446
12 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh38 Chromosome 7, 41967848: 41967848
13 GLI3 GLI3, 1-BP DEL, 2372C deletion Pathogenic
14 GLI3 NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs) deletion Pathogenic rs398122899 GRCh37 Chromosome 7, 42018228: 42018229
15 GLI3 NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs) deletion Pathogenic rs398122899 GRCh38 Chromosome 7, 41978629: 41978630
16 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
17 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
18 PSTPIP1 NM_003978.4(PSTPIP1): c.741+32_741+33dupGT insertion not provided rs104895417 GRCh37 Chromosome 15, 77323651: 77323652
19 PSTPIP1 NM_003978.4(PSTPIP1): c.741+32_741+33dupGT insertion not provided rs104895417 GRCh38 Chromosome 15, 77031310: 77031311
20 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh37 Chromosome 15, 77324645: 77324645
21 PSTPIP1 NM_003978.4(PSTPIP1): c.748G> A (p.Glu250Lys) single nucleotide variant Pathogenic rs28939089 GRCh38 Chromosome 15, 77032304: 77032304
22 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh37 Chromosome 15, 77324693: 77324693
23 PSTPIP1 NM_003978.4(PSTPIP1): c.796G> A (p.Asp266Asn) single nucleotide variant not provided rs104895418 GRCh38 Chromosome 15, 77032352: 77032352
24 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh38 Chromosome 15, 77018523: 77018523
25 PSTPIP1 NM_003978.4(PSTPIP1): c.204G> A (p.Thr68=) single nucleotide variant Benign rs113386299 GRCh37 Chromosome 15, 77310864: 77310864
26 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh38 Chromosome 15, 77018543: 77018543
27 PSTPIP1 NM_003978.4(PSTPIP1): c.212+12C> T single nucleotide variant Benign rs3812914 GRCh37 Chromosome 15, 77310884: 77310884
28 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh38 Chromosome 15, 77025614: 77025614
29 PSTPIP1 NM_003978.4(PSTPIP1): c.354+10G> A single nucleotide variant Benign/Likely benign rs370745407 GRCh37 Chromosome 15, 77317955: 77317955
30 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh38 Chromosome 15, 77032342: 77032342
31 PSTPIP1 NM_003978.4(PSTPIP1): c.786C> T (p.Asp262=) single nucleotide variant Benign/Likely benign rs35860563 GRCh37 Chromosome 15, 77324683: 77324683
32 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh38 Chromosome 15, 77032393: 77032393
33 PSTPIP1 NM_003978.4(PSTPIP1): c.837C> T (p.Pro279=) single nucleotide variant Benign/Likely benign rs149195362 GRCh37 Chromosome 15, 77324734: 77324734
34 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh38 Chromosome 15, 77032931: 77032931
35 PSTPIP1 NM_003978.4(PSTPIP1): c.908C> T (p.Pro303Leu) single nucleotide variant Benign/Likely benign rs189773500 GRCh37 Chromosome 15, 77325272: 77325272
36 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh38 Chromosome 15, 77037131: 77037131
37 PSTPIP1 NM_003978.4(PSTPIP1): c.1206C> T (p.Asn402=) single nucleotide variant Benign rs146035424 GRCh37 Chromosome 15, 77329472: 77329472
38 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh38 Chromosome 15, 77025307: 77025307
39 PSTPIP1 NM_003978.4(PSTPIP1): c.236C> T (p.Ser79Phe) single nucleotide variant Benign/Likely benign rs77026017 GRCh37 Chromosome 15, 77317648: 77317648
40 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh38 Chromosome 15, 77037133: 77037133
41 PSTPIP1 NM_003978.4(PSTPIP1): c.1208G> A (p.Gly403Glu) single nucleotide variant Uncertain significance rs201572812 GRCh37 Chromosome 15, 77329474: 77329474
42 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh38 Chromosome 15, 77037138: 77037138
43 PSTPIP1 NM_003978.4(PSTPIP1): c.1213C> T (p.Arg405Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs201253322 GRCh37 Chromosome 15, 77329479: 77329479
44 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh37 Chromosome 15, 77329417: 77329417
45 PSTPIP1 NM_003978.4(PSTPIP1): c.1151A> G (p.Asp384Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs200771233 GRCh38 Chromosome 15, 77037076: 77037076
46 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh37 Chromosome 15, 77323535: 77323535
47 PSTPIP1 NM_003978.4(PSTPIP1): c.657A> C (p.Gln219His) single nucleotide variant Benign/Likely benign rs139362350 GRCh38 Chromosome 15, 77031194: 77031194
48 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh38 Chromosome 15, 77032905: 77032905
49 PSTPIP1 NM_003978.4(PSTPIP1): c.882G> A (p.Pro294=) single nucleotide variant Likely benign rs200796501 GRCh37 Chromosome 15, 77325246: 77325246
50 PSTPIP1 NM_003978.4(PSTPIP1): c.1221C> A (p.Phe407Leu) single nucleotide variant Likely benign rs200363654 GRCh37 Chromosome 15, 77329487: 77329487

Expression for Polydactyly, Postaxial, Type A1

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

Pathways for Polydactyly, Postaxial, Type A1

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 EVC EVC2 GLI3 IQCE
2
Show member pathways
11.24 EVC EVC2 GLI3

GO Terms for Polydactyly, Postaxial, Type A1

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 BBS12 CC2D2A EVC EVC2 GLI3 IQCE
2 ciliary membrane GO:0060170 9.33 EVC EVC2 IQCE
3 ciliary base GO:0097546 9.32 FAM92A GLI3
4 plasma membrane protein complex GO:0098797 9.26 EVC EVC2
5 cell projection GO:0042995 9.23 BBS12 CC2D2A EVC EVC2 FAM92A GLI3

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 BMP4 CC2D2A GLI3
2 embryonic limb morphogenesis GO:0030326 9.55 BMP4 GLI3
3 embryonic skeletal system morphogenesis GO:0048704 9.54 BMP4 GLI3
4 branching involved in ureteric bud morphogenesis GO:0001658 9.51 BMP4 GLI3
5 regulation of cell differentiation GO:0045595 9.49 BMP4 GLI3
6 metanephros development GO:0001656 9.48 BMP4 GLI3
7 neuron fate commitment GO:0048663 9.46 BMP4 GLI3
8 telencephalon development GO:0021537 9.43 BMP4 GLI3
9 branching morphogenesis of an epithelial tube GO:0048754 9.4 BMP4 GLI3
10 anatomical structure formation involved in morphogenesis GO:0048646 9.37 BMP4 GLI3
11 limb morphogenesis GO:0035108 9.32 GLI3 ZNF141
12 camera-type eye morphogenesis GO:0048593 9.26 BMP4 GLI3
13 embryonic morphogenesis GO:0048598 9.16 BMP4 GLI3
14 camera-type eye development GO:0043010 9.13 BMP4 CC2D2A GLI3
15 smoothened signaling pathway GO:0007224 9.02 BMP4 CC2D2A EVC EVC2 GLI3

Sources for Polydactyly, Postaxial, Type A1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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