PPD1
MCID: PLY136
MIFTS: 33

Polydactyly, Preaxial I (PPD1)

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

Aliases & Classifications for Polydactyly, Preaxial I

MalaCards integrated aliases for Polydactyly, Preaxial I:

Name: Polydactyly, Preaxial I 56 73 29 6 39
Ppd1 56 52 58 73
Polydactyly of a Biphalangeal Thumb 52 58
Preaxial Polydactyly Type 1 52 58
Preaxial Polydactyly 36 29
Thumb Polydactyly 56 52
Polydactyly Preaxial Type 1 74
Polydactyly, Preaxial 1 73
Polydactyly Preaxial 1 52
Preaxial Polydactyly 1 52
Polydactyly, Preaxial 56

Characteristics:

Orphanet epidemiological data:

58
polydactyly of a biphalangeal thumb
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 cousins from a consanguineous pakistani family (last curated april 2019)


HPO:

31

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 174400
OMIM Phenotypic Series 56 PS174400
KEGG 36 H02332
MeSH 43 D017689
ICD10 via Orphanet 33 Q69.1
UMLS via Orphanet 72 C1395852
Orphanet 58 ORPHA93339

Summaries for Polydactyly, Preaxial I

OMIM : 56 Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I, 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations (Handforth, 1950). (174400)

MalaCards based summary : Polydactyly, Preaxial I, also known as ppd1, is related to polydactyly, preaxial iv and polydactyly, preaxial ii. An important gene associated with Polydactyly, Preaxial I is GLI1 (GLI Family Zinc Finger 1), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include bone, heart and testes, and related phenotypes are preaxial hand polydactyly and partial duplication of thumb phalanx

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93339 Definition Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome , that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. Visit the Orphanet disease page for more resources.

KEGG : 36 Polydactyly is the most common hereditary limb anomaly characterized by extra fingers. Preaxial polydactyly (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GL3 and SHH/ZRS, involved in Hedgehog pathway, result in preaxial polydactyly.

UniProtKB/Swiss-Prot : 73 Polydactyly, preaxial 1: A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD1 is an autosomal recessive form characterized by duplication of the distal phalanx of the thumb.

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

Related Diseases for Polydactyly, Preaxial I

Diseases in the Polydactyly, Preaxial Ii family:

Polydactyly, Preaxial I Polydactyly, Preaxial Iii
Polydactyly, Preaxial Iv

Diseases related to Polydactyly, Preaxial I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 147)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial iv 12.8
2 polydactyly, preaxial ii 12.5
3 obsolete: preaxial polydactyly of toes 12.5
4 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 12.5
5 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 12.5
6 polydactyly, preaxial iii 12.4
7 ectodermal dysplasia alopecia preaxial polydactyly 12.4
8 preaxial polydactyly-colobomata-intellectual disability syndrome 12.3
9 obsolete: preaxial polydactyly of toes, bilateral 12.3
10 obsolete: preaxial polydactyly of toes, unilateral 12.3
11 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 12.3
12 pfeiffer mayer syndrome 12.2
13 acropectoral syndrome 12.1
14 ho kaufman mcalister syndrome 11.9
15 acromelic frontonasal dysostosis 11.9
16 acrocallosal syndrome 11.8
17 carpenter syndrome 1 11.8
18 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.7
19 tibia, hypoplasia or aplasia of, with polydactyly 11.7
20 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 11.7
21 townes-brocks syndrome 11.6
22 obsolete: polydactyly of a biphalangeal thumb, unilateral 11.4
23 obsolete: polydactyly of a biphalangeal thumb, bilateral 11.4
24 split-foot deformity with mandibulofacial dysostosis 11.3
25 biemond syndrome ii 11.3
26 preaxial hallucal polydactyly 11.3
27 preaxial polydactyly of fingers 11.3
28 obsolete: polydactyly of a triphalangeal thumb, unilateral 11.3
29 obsolete: polydactyly of a triphalangeal thumb, bilateral 11.3
30 obsolete: polydactyly of an index finger, unilateral 11.3
31 obsolete: polysyndactyly, bilateral 11.3
32 obsolete: polysyndactyly, unilateral 11.3
33 obsolete: polydactyly of an index finger, bilateral 11.3
34 acropectorovertebral dysplasia 11.3
35 goiter, multinodular, cystic renal disease, and digital anomalies 11.3
36 hemifacial microsomia with radial defects 11.3
37 orofaciodigital syndrome x 11.3
38 acrofrontofacionasal dysostosis 2 11.3
39 syndromic x-linked intellectual disability siderius type 11.3
40 manouvrier syndrome 11.3
41 orofaciodigital syndrome 12 11.3
42 x-linked intellectual disability, siderius type 11.3
43 polydactyly 10.6
44 microcephaly 10.6
45 invasive pneumococcal disease, recurrent isolated, 1 10.6
46 apert syndrome 10.4
47 cleft palate, isolated 10.4
48 heart septal defect 10.4
49 dysostosis 10.4
50 syndactyly, type iv 10.3

Graphical network of the top 20 diseases related to Polydactyly, Preaxial I:



Diseases related to Polydactyly, Preaxial I

Symptoms & Phenotypes for Polydactyly, Preaxial I

Human phenotypes related to Polydactyly, Preaxial I:

31
# Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 31 HP:0001177
2 partial duplication of thumb phalanx 31 HP:0009944
3 radial deviation of thumb terminal phalanx 31 HP:0005895

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
bifid thumb
duplication of distal phalanx of thumbs

Clinical features from OMIM:

174400

Drugs & Therapeutics for Polydactyly, Preaxial I

Search Clinical Trials , NIH Clinical Center for Polydactyly, Preaxial I

Genetic Tests for Polydactyly, Preaxial I

Genetic tests related to Polydactyly, Preaxial I:

# Genetic test Affiliating Genes
1 Preaxial Polydactyly 29
2 Polydactyly, Preaxial I 29 GLI1

Anatomical Context for Polydactyly, Preaxial I

MalaCards organs/tissues related to Polydactyly, Preaxial I:

40
Bone, Heart, Testes, Lung, Skin, Cervix, T Cells

Publications for Polydactyly, Preaxial I

Articles related to Polydactyly, Preaxial I:

(show top 50) (show all 89)
# Title Authors PMID Year
1
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly. 56 6
30620395 2019
2
Thumb/hallux duplication and preaxial polydactyly type I. 56
10215544 1999
3
Hand and foot postaxial polydactyly: two different traits. 56
9375922 1997
4
A pedigree with bilateral preaxial polydactyly from India. 56
3655751 1987
5
Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia. 56
3816011 1987
6
Hereditary abductor--opponens agenesis. Report of a family with congenital muscle defects of the thenar eminence. 56
65459 1977
7
Polydactyly in the American Indian. 56
1155454 1975
8
Polydactylism of the hand in southern Chinese. 56
15405667 1950
9
Fatherhood diminishes the hippocampal damaging action of excitotoxic lesioning in mice. 61
31433881 2019
10
Antiaflatoxigenic effects of selected antifungal peptides. 61
30776385 2019
11
Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly. 61
30235038 2018
12
Exploring bioactive peptides from bacterial secretomes using PepSAVI-MS: identification and characterization of Bac-21 from Enterococcus faecalis pPD1. 61
30014612 2018
13
Association genetics studies on frost tolerance in wheat (Triticum aestivum L.) reveal new highly conserved amino acid substitutions in CBF-A3, CBF-A15, VRN3 and PPD1 genes. 61
29843596 2018
14
Effects of ambient temperature in association with photoperiod on phenology and on the expressions of major plant developmental genes in wheat (Triticum aestivum L.). 61
28426157 2017
15
Night-Break Experiments Shed Light on the Photoperiod1-Mediated Flowering. 61
28408541 2017
16
Percutaneous microwave ablation (MWA) increased the serum levels of VEGF and MMP-9 in Stage I non-small cell lung cancer (NSCLC). 61
28100078 2017
17
Inflammatory mediator polymorphisms associate with initial periodontitis in adolescents. 61
29744169 2016
18
Harnessing bacteriocin biology as targeted therapy in the GI tract. 61
27624536 2016
19
Genetic and physical mapping of the earliness per se locus Eps-A (m) 1 in Triticum monococcum identifies EARLY FLOWERING 3 (ELF3) as a candidate gene. 61
27085709 2016
20
Neonatal handling alters maternal emotional response to stress. 61
27020142 2016
21
RNA-seq studies using wheat PHYTOCHROME B and PHYTOCHROME C mutants reveal shared and specific functions in the regulation of flowering and shade-avoidance pathways. 61
27329140 2016
22
Heading Date QTL in Winter Wheat (Triticum aestivum L.) Coincide with Major Developmental Genes VERNALIZATION1 and PHOTOPERIOD1. 61
27163605 2016
23
Functional Studies of Heading Date-Related Gene TaPRR73, a Paralog of Ppd1 in Common Wheat. 61
27313595 2016
24
Bacteriocin production augments niche competition by enterococci in the mammalian gastrointestinal tract. 61
26479034 2015
25
Discovery, evaluation and distribution of haplotypes and new alleles of the Photoperiod-A1 gene in wheat. 61
25851614 2015
26
PHYTOCHROME C is an essential light receptor for photoperiodic flowering in the temperate grass, Brachypodium distachyon. 61
25023399 2014
27
The PsbP domain protein 1 functions in the assembly of lumenal domains in photosystem I. 61
25008325 2014
28
Phytochrome C plays a major role in the acceleration of wheat flowering under long-day photoperiod. 61
24961368 2014
29
The structure of a purple acid phosphatase involved in plant growth and pathogen defence exhibits a novel immunoglobulin-like fold. 61
25075326 2014
30
Allele frequencies in the VRN-A1, VRN-B1 and VRN-D1 vernalization response and PPD-B1 and PPD-D1 photoperiod sensitivity genes, and their effects on heading in a diverse set of wheat cultivars (Triticum aestivum L.). 61
25076837 2014
31
The PsbP family of proteins. 61
23564479 2013
32
Epidemiology of isolated preaxial polydactyly type I: data from the Polish Registry of Congenital Malformations (PRCM). 61
23421878 2013
33
PsbP-domain protein1, a nuclear-encoded thylakoid lumenal protein, is essential for photosystem I assembly in Arabidopsis. 61
23221595 2012
34
The quantitative response of wheat vernalization to environmental variables indicates that vernalization is not a response to cold temperature. 61
21994169 2012
35
Wheat flowering repressor VRN2 and promoter CO2 compete for interactions with NUCLEAR FACTOR-Y complexes. 61
21554456 2011
36
Inhibition of Drp1-dependent mitochondrial fragmentation and apoptosis by a polypeptide antagonist of calcineurin. 61
20489733 2010
37
The molecular shape of poly(propylenimine) dendrimer amphiphiles has a profound effect on their self assembly. 61
19860445 2010
38
Complex nature of enterococcal pheromone-responsive plasmids. 61
20734751 2010
39
Diphosphonucleotide phosphatase/phosphodiesterase (PPD1) from yellow lupin (Lupinus luteus L.) contains an iron-manganese center. 61
19755125 2009
40
Regulation of flowering in temperate cereals. 61
19195924 2009
41
Cloning, E. coli overexpression, purification and binding properties of TraA and TraC, two proteins involved in the pheromone-dependent conjugation process in enterococci. 61
18468916 2008
42
Specificity of the TraA-DNA interaction in the regulation of the pPD1-encoded sex pheromone response in Enterococcus faecalis. 61
18579153 2008
43
Comparison of different signal peptides for protein secretion in nonlytic insect cell system. 61
17046707 2006
44
PEAPOD regulates lamina size and curvature in Arabidopsis. 61
16916932 2006
45
[Duration of the period before heading and test for allelism in Ppd-lines of different origin]. 61
16792018 2006
46
Specific control of endogenous cCF10 pheromone by a conserved domain of the pCF10-encoded regulatory protein PrgY in Enterococcus faecalis. 61
15995198 2005
47
Drug resistance of Enterococcus faecium clinical isolates and the conjugative transfer of gentamicin and erythromycin resistance traits. 61
15686834 2005
48
Expression and purification of active plant diphosphonucleotide phosphatase/phosphodiesterase from baculovirus-infected insect cells. 61
15596367 2005
49
Sex pheromone response, clumping, and slime production in enterococcal strains isolated from occluded biliary stents. 61
15297477 2004
50
Heritability of LDL peak particle diameter in the Quebec Family Study. 61
14639707 2003

Variations for Polydactyly, Preaxial I

ClinVar genetic disease variations for Polydactyly, Preaxial I:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927
2 GLI1 NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln)SNV Uncertain significance 626906 rs753690500 12:57863422-57863422 12:57469639-57469639

Expression for Polydactyly, Preaxial I

Search GEO for disease gene expression data for Polydactyly, Preaxial I.

Pathways for Polydactyly, Preaxial I

Pathways related to Polydactyly, Preaxial I according to KEGG:

36
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Polydactyly, Preaxial I

Sources for Polydactyly, Preaxial I

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
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