PAPA1
MCID: PLY147
MIFTS: 43

Polydactyly, Postaxial, Type A1 (PAPA1)

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 57
Polydactyly, Postaxial 57 55 40 73
Postaxial Polydactyly Type a 59 75 73
Polydactyly, Postaxial, Types A1 and B 57 13
Postaxial Polydactyly, Type a 57 55
Papa1 57 75
Papa 57 75
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne 73
Postaxial Polydactyly, Type a; Papa 57
Polydactyly, Postaxial, Type A1 ) 40
Postaxial Polydactyly, Type A1/b 6
Postaxial Polydactyly, Type B 73
Postaxial Polydactyly Type B 59
Polydactyly, Postaxial A1 75
Polydactyly, Postaxial B 75
Postaxial Polydactyly B 6
Postaxial Polydactyly 75
Papb 75

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:



External Ids:

OMIM 57 174200
ICD10 via Orphanet 34 Q69.0
UMLS via Orphanet 74 C1868120 C3887487
MeSH 44 D017689

Summaries for Polydactyly, Postaxial, Type A1

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)

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 skin, bone and brain, and related phenotypes are broad thumb and triphalangeal thumb

UniProtKB/Swiss-Prot : 75 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

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

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 mckusick-kaufman syndrome 33.5 GLI3 BBS12
2 weyers acrofacial dysostosis 31.7 EVC2 EVC
3 polydactyly 30.7 ZNF141 GLI3 EVC
4 atrioventricular septal defect 29.9 EVC2 EVC
5 dandy-walker malformation with postaxial polydactyly 12.7
6 preaxial deficiency, postaxial polydactyly, and hypospadias 12.7
7 scalp defects and postaxial polydactyly 12.6
8 bartsocas-papas syndrome 12.6
9 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.3
10 polydactyly, postaxial, type a5 12.3
11 polydactyly, postaxial, type a3 12.3
12 polydactyly, postaxial, type a4 12.3
13 polydactyly, postaxial, type a2 12.3
14 polydactyly, postaxial, with progressive myopia 12.2
15 polydactyly, postaxial, with dental and vertebral anomalies 12.2
16 polydactyly, postaxial, type a8 12.2
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 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.1
21 pyogenic arthritis, pyoderma gangrenosum and acne 12.1
22 pallister-hall syndrome 12.1
23 acrocallosal syndrome 12.0
24 oliver syndrome 11.9
25 kozlowski-krajewska syndrome 11.9
26 culler-jones syndrome 11.9
27 pseudotrisomy 13 syndrome 11.7
28 ellis-van creveld syndrome 11.6
29 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.6
30 orofaciodigital syndrome v 11.5
31 hydrolethalus syndrome 2 11.4
32 greig cephalopolysyndactyly syndrome 11.3
33 synpolydactyly 1 11.3
34 megalencephaly-capillary malformation-polymicrogyria syndrome 11.3
35 joubert syndrome 14 11.3
36 tibia, hypoplasia or aplasia of, with polydactyly 11.2
37 biemond syndrome ii 11.2
38 ohdo syndrome, sbbys variant 11.2
39 garret tripp syndrome 11.2
40 polydactyly, postaxial, type a6 11.1
41 polydactyly, postaxial, type a7 11.1
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

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

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 postaxial hand polydactyly 32 HP:0001162
4 syndactyly 32 occasional (7.5%) HP:0001159
5 preaxial polydactyly 32 HP:0100258

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.55 BMP4 CC2D2A EVC EVC2 GLI3
2 limbs/digits/tail MP:0005371 9.43 BMP4 CC2D2A EVC EVC2 GLI3 IQCE
3 skeleton MP:0005390 9.1 BBS12 BMP4 EVC EVC2 GLI3 IQCE

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

Anatomical Context for Polydactyly, Postaxial, Type A1

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

41
Skin, Bone, Brain, Heart

Publications for Polydactyly, Postaxial, Type A1

Articles related to Polydactyly, Postaxial, Type A1:

# Title Authors Year
1
Polydactyly, postaxial, type B. ( 29377639 )
2018

Variations for Polydactyly, Postaxial, Type A1

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

75
# 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 all 21)
# 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 GLI3 GLI3, 1-BP DEL, 2372C deletion Pathogenic
4 GLI3 GLI3, CODON 764, FS undetermined variant Pathogenic
5 GLI3 GLI3, 1-BP DEL, 3707G deletion Pathogenic
6 GLI3 NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs121917709 GRCh37 Chromosome 7, 42012112: 42012112
7 GLI3 NM_000168.5(GLI3): c.1927C> T (p.Arg643Ter) single nucleotide variant Pathogenic rs121917709 GRCh38 Chromosome 7, 41972513: 41972513
8 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh37 Chromosome 7, 42007446: 42007446
9 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh38 Chromosome 7, 41967848: 41967848
10 GLI3 NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs) deletion Pathogenic rs398122899 GRCh37 Chromosome 7, 42018228: 42018229
11 GLI3 NM_000168.5(GLI3): c.1616_1617delGA (p.Arg539Thrfs) deletion Pathogenic rs398122899 GRCh38 Chromosome 7, 41978629: 41978630
12 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh37 Chromosome 4, 15589553: 15589553
13 CC2D2A NM_001080522.2(CC2D2A): c.4179+1delG (p.Gly1394Valfs) deletion Pathogenic rs386833760 GRCh38 Chromosome 4, 15587930: 15587930
14 GLI3 NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs) deletion Pathogenic rs1057518698 GRCh38 Chromosome 7, 41967775: 41967775
15 GLI3 NM_000168.5(GLI3): c.2252delA (p.Asp751Alafs) deletion Pathogenic rs1057518698 GRCh37 Chromosome 7, 42007373: 42007373
16 GLI3 NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs) deletion Pathogenic rs1060499558 GRCh37 Chromosome 7, 42005036: 42005036
17 GLI3 NM_000168.5(GLI3): c.3635delG (p.Gly1212Alafs) deletion Pathogenic rs1060499558 GRCh38 Chromosome 7, 41965438: 41965438
18 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 4, 15518380: 15518380
19 CC2D2A NM_001080522.2(CC2D2A): c.1149+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 4, 15516757: 15516757
20 OFD1 NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 13760459: 13760459
21 OFD1 NM_003611.2(OFD1): c.1999G> A (p.Ala667Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 13778578: 13778578

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 cell projection GO:0042995 9.43 BBS12 CC2D2A EVC EVC2 GLI3 IQCE
2 ciliary membrane GO:0060170 9.33 EVC EVC2 IQCE
3 plasma membrane protein complex GO:0098797 9.26 EVC EVC2
4 cilium GO:0005929 9.1 BBS12 CC2D2A EVC EVC2 GLI3 IQCE

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.69 BMP4 CC2D2A GLI3
2 positive regulation of osteoblast differentiation GO:0045669 9.58 BMP4 GLI3
3 embryonic digit morphogenesis GO:0042733 9.57 BMP4 GLI3
4 odontogenesis of dentin-containing tooth GO:0042475 9.56 BMP4 GLI3
5 embryonic limb morphogenesis GO:0030326 9.55 BMP4 GLI3
6 embryonic skeletal system morphogenesis GO:0048704 9.54 BMP4 GLI3
7 branching involved in ureteric bud morphogenesis GO:0001658 9.52 BMP4 GLI3
8 regulation of cell differentiation GO:0045595 9.49 BMP4 GLI3
9 metanephros development GO:0001656 9.48 BMP4 GLI3
10 neuron fate commitment GO:0048663 9.46 BMP4 GLI3
11 telencephalon development GO:0021537 9.43 BMP4 GLI3
12 branching morphogenesis of an epithelial tube GO:0048754 9.4 BMP4 GLI3
13 anatomical structure formation involved in morphogenesis GO:0048646 9.37 BMP4 GLI3
14 limb morphogenesis GO:0035108 9.32 GLI3 ZNF141
15 camera-type eye morphogenesis GO:0048593 9.26 BMP4 GLI3
16 embryonic morphogenesis GO:0048598 9.16 BMP4 GLI3
17 camera-type eye development GO:0043010 9.13 BMP4 CC2D2A GLI3
18 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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