MCID: PLY147
MIFTS: 39

Polydactyly, Postaxial, Type A1

Categories: Genetic diseases, Bone diseases, Fetal 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 75 37 29 6
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
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
KEGG 37 H01852

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 dandy-walker malformation with postaxial polydactyly. 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 and bone, and related phenotypes are syndactyly and postaxial hand polydactyly

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

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 mckusick-kaufman syndrome 33.9 BBS12 GLI3
2 dandy-walker malformation with postaxial polydactyly 12.5
3 preaxial deficiency, postaxial polydactyly, and hypospadias 12.5
4 scalp defects and postaxial polydactyly 12.5
5 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly 12.1
6 cortical blindness, retardation, and postaxial polydactyly 12.0
7 ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia 12.0
8 brain malformation-congenital heart disease-postaxial polydactyly syndrome 12.0
9 popliteal pterygium syndrome, lethal type 12.0
10 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 12.0
11 pyogenic arthritis, pyoderma gangrenosum and acne 12.0
12 pallister-hall syndrome 11.9
13 acrocallosal syndrome 11.8
14 oliver syndrome 11.8
15 culler-jones syndrome 11.7
16 polydactyly, postaxial, type a6 11.0
17 polydactyly, postaxial, type a7 11.0
18 talipes equinovarus 10.5 CC2D2A GLI3
19 polydactyly 10.4
20 pyoderma 10.3
21 pyoderma gangrenosum 10.3
22 synovial chondromatosis 10.3 BMP4 GLI3
23 arthritis 10.3
24 bardet-biedl syndrome 13 10.2 BBS12 CC2D2A
25 chand syndrome 9.9
26 char syndrome 9.8 BMP4 EVC
27 popliteal pterygium syndrome 9.8
28 nipples, supernumerary 9.8
29 familial mediterranean fever 9.8
30 multiple pterygium syndrome, escobar variant 9.8
31 ischemic heart disease 9.8
32 synpolydactyly 9.8
33 brucellosis 9.8
34 heart disease 9.8
35 hidradenitis 9.8
36 headache 9.8
37 physical disorder 9.6 BMP4 GLI3
38 weyers acrofacial dysostosis 9.5 EVC EVC2
39 acrofacial dysostosis 9.4 EVC EVC2
40 clouston syndrome 9.4 EVC EVC2
41 short-rib thoracic dysplasia 6 with or without polydactyly 9.3 EVC EVC2
42 atrioventricular septal defect 9.1 EVC EVC2

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 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)

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


Clinical features from OMIM:

174200

Human phenotypes related to Polydactyly, Postaxial, Type A1:

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

Genetic tests related to Polydactyly, Postaxial, Type A1:

# Genetic test Affiliating Genes
1 Postaxial Polydactyly 29 GLI3

Anatomical Context for Polydactyly, Postaxial, Type A1

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

41
Skin, Bone

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

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 9.63 BBS12 CC2D2A EVC EVC2 GLI3 IQCE
2 ciliary membrane GO:0060170 9.43 EVC EVC2 IQCE
3 plasma membrane protein complex GO:0098797 9.13 EVC EVC2 IQCE
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 9.67 BMP4 CC2D2A GLI3
2 embryonic digit morphogenesis GO:0042733 9.58 BMP4 GLI3
3 positive regulation of osteoblast differentiation GO:0045669 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 9.51 BMP4 GLI3
9 metanephros development GO:0001656 9.48 BMP4 GLI3
10 branching morphogenesis of an epithelial tube GO:0048754 9.46 BMP4 GLI3
11 neuron fate commitment GO:0048663 9.43 BMP4 GLI3
12 telencephalon development GO:0021537 9.4 BMP4 GLI3
13 limb morphogenesis GO:0035108 9.37 GLI3 ZNF141
14 anatomical structure formation involved in morphogenesis GO:0048646 9.32 BMP4 GLI3
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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