PPD1
MCID: PLY136
MIFTS: 29

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 58 6
Ppd1 58 54 60
Polydactyly of a Biphalangeal Thumb 54 60
Preaxial Polydactyly Type 1 54 60
Thumb Polydactyly 58 54
Polydactyly Preaxial Type 1 77
Polydactyly Preaxial 1 54
Preaxial Polydactyly 1 54
Polydactyly, Preaxial 58
Preaxial Polydactyly 30

Characteristics:

Orphanet epidemiological data:

60
polydactyly of a biphalangeal thumb
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
polydactyly, preaxial i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 174400
ICD10 via Orphanet 35 Q69.1
UMLS via Orphanet 75 C1395852
Orphanet 60 ORPHA93339
MedGen 43 C1395852
SNOMED-CT via HPO 70 205135003 263681008 445216006

Summaries for Polydactyly, Preaxial I

OMIM : 58 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). Affiliated tissues include bone and heart, and related phenotypes are preaxial hand polydactyly and radial deviation of thumb terminal phalanx

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93339Disease definitionPolydactyly 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.

Wikipedia : 77 Polydactyly or polydactylism (from Greek, Modern πολύς (polys), meaning ''many'', and δάκτυλος... 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 83)
# Related Disease Score Top Affiliating Genes
1 polydactyly, preaxial iv 12.7
2 polydactyly, preaxial ii 12.4
3 ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet 12.4
4 ectodermal dysplasia alopecia preaxial polydactyly 12.3
5 polydactyly, preaxial iii 12.3
6 hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly 12.3
7 preaxial polydactyly-colobomata-intellectual disability syndrome 12.2
8 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 12.2
9 acropectoral syndrome 12.0
10 ho kaufman mcalister syndrome 11.8
11 pfeiffer mayer syndrome 11.8
12 cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction 11.6
13 acrocallosal syndrome 11.5
14 acromelic frontonasal dysostosis 11.4
15 carpenter syndrome 1 11.3
16 biemond syndrome ii 11.2
17 microcephaly, corpus callosum dysgenesis, and cleft lip/palate 11.2
18 split-foot deformity with mandibulofacial dysostosis 11.2
19 preaxial hallucal polydactyly 11.2
20 preaxial polydactyly of fingers 11.2
21 hemifacial microsomia with radial defects 11.2
22 orofaciodigital syndrome x 11.2
23 acrofrontofacionasal dysostosis 2 11.2
24 syndromic x-linked intellectual disability siderius type 11.2
25 acropectorovertebral dysplasia f form 11.2
26 daneman davy mancer syndrome 11.2
27 manouvrier syndrome 11.2
28 orofaciodigital syndrome 12 11.2
29 x-linked intellectual disability, siderius type 11.2
30 tibia, hypoplasia or aplasia of, with polydactyly 10.5
31 microcephaly 10.5
32 polydactyly 10.5
33 apert syndrome 10.3
34 femoral-facial syndrome 10.3
35 charge syndrome 10.3
36 tibial hemimelia 10.3
37 holoprosencephaly 10.3
38 dysostosis 10.3
39 fanconi anemia, complementation group a 10.1
40 multiple sclerosis 10.1
41 invasive pneumococcal disease, recurrent isolated, 1 10.1
42 branchiooculofacial syndrome 10.1
43 catatrichy 10.1
44 pallister-hall syndrome 10.1
45 neurofibromatosis, type iv, of riccardi 10.1
46 polydactyly, postaxial, type a1 10.1
47 odontochondrodysplasia 10.1
48 chromosome 2q35 duplication syndrome 10.1
49 syndactyly, type iv 10.1
50 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 10.1

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:

33
# Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 33 HP:0001177
2 radial deviation of thumb terminal phalanx 33 HP:0005895

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Polydactyly, Preaxial I

MalaCards organs/tissues related to Polydactyly, Preaxial I:

42
Bone, Heart

Publications for Polydactyly, Preaxial I

Articles related to Polydactyly, Preaxial I:

(show all 20)
# Title Authors Year
1
Exploring bioactive peptides from bacterial secretomes using PepSAVI-MS: identification and characterization of Bac-21 from Enterococcus faecalis pPD1. ( 30014612 )
2018
2
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. ( 29843596 )
2018
3
Functional Studies of Heading Date-Related Gene TaPRR73, a Paralog of Ppd1 in Common Wheat. ( 27313595 )
2016
4
Diphosphonucleotide phosphatase/phosphodiesterase (PPD1) from yellow lupin (Lupinus luteus L.) contains an iron-manganese center. ( 19755125 )
2009
5
Specificity of the TraA-DNA interaction in the regulation of the pPD1-encoded sex pheromone response in Enterococcus faecalis. ( 18579153 )
2008
6
Functional analysis of TraA, the sex pheromone receptor encoded by pPD1, in a promoter region essential for the mating response in Enterococcus faecalis. ( 12399504 )
2002
7
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7. ( 11131354 )
2000
8
Molecular mechanism of peptide-specific pheromone signaling in Enterococcus faecalis: functions of pheromone receptor TraA and pheromone-binding protein TraC encoded by plasmid pPD1. ( 9457843 )
1998
9
Genetic analysis of plasmid-specific pheromone signaling encoded by pPD1 in Enterococcus faecalis. ( 9404056 )
1997
10
Cloning and genetic and sequence analyses of the bacteriocin 21 determinant encoded on the Enterococcus faecalis pheromone-responsive conjugative plasmid pPD1. ( 9401046 )
1997
11
The traA gene of the Enterococcus faecalis conjugative plasmid pPD1 encodes a negative regulator for the pheromone response. ( 8938053 )
1996
12
Comparative analysis of 18 sex pheromone plasmids from Enterococcus faecalis: detection of a new insertion element on pPD1 and implications for the evolution of this plasmid family. ( 8917306 )
1996
13
Cloning and characterization of a region of Enterococcus faecalis plasmid pPD1 encoding pheromone inhibitor (ipd), pheromone sensitivity (traC), and pheromone shutdown (traB) genes. ( 7559344 )
1995
14
Physical mapping of the conjugative bacteriocin plasmid pPD1 of Enterococcus faecalis and identification of the determinant related to the pheromone response. ( 7559345 )
1995
15
Targeted disruption of the PD78 gene (traF) reduces pheromone-inducible conjugal transfer of the bacteriocin plasmid pPD1 in Enterococcus faecalis. ( 7781976 )
1995
16
Transcriptional control of sex-pheromone-inducible genes on plasmid pAD1 of Enterococcus faecalis and sequence analysis of a third structural gene for (pPD1-encoded) aggregation substance. ( 1640831 )
1992
17
Amino acid sequence of pheromone-inducible surface protein in Enterococcus faecalis, that is encoded on the conjugative plasmid pPD1. ( 2114324 )
1990
18
Amino acid sequence of pheromone-inducible surface protein in Enterococcus faecalis, that is encoded on the conjugative plasmid pPD1. ( 2116976 )
1990
19
Isolation and structure of the sex pheromone inhibitor, iPD1, excreted by Streptococcus faecalis donor strains harboring plasmid pPD1. ( 3104314 )
1987
20
Minor manifestations in preaxial polydactyly type 1 and Poland complex. ( 7282776 )
1981

Variations for Polydactyly, Preaxial I

ClinVar genetic disease variations for Polydactyly, Preaxial I:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
2 GLI1 NM_005269.3(GLI1): c.1517T> A (p.Leu506Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 57469639: 57469639
3 GLI1 NM_005269.3(GLI1): c.1517T> A (p.Leu506Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 57863422: 57863422

Expression for Polydactyly, Preaxial I

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

Pathways for Polydactyly, Preaxial I

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
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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