PPD3
MCID: PLY137
MIFTS: 22

Polydactyly, Preaxial Iii (PPD3)

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

Aliases & Classifications for Polydactyly, Preaxial Iii

MalaCards integrated aliases for Polydactyly, Preaxial Iii:

Name: Polydactyly, Preaxial Iii 56 71
Ppd3 56 52 58
Polydactyly of an Index Finger 52 58
Preaxial Polydactyly Type 3 52 58
Index Finger Polydactyly 56 52

Characteristics:

Orphanet epidemiological data:

58
polydactyly of an index finger
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
polydactyly, preaxial iii:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 174600
OMIM Phenotypic Series 56 PS174400
ICD10 via Orphanet 33 Q69.0
UMLS via Orphanet 72 C1868113
Orphanet 58 ORPHA93337
MedGen 41 C1868113
SNOMED-CT via HPO 68 205135003 205308004 263681008
UMLS 71 C1868113

Summaries for Polydactyly, Preaxial Iii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93337 Definition Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome , where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral (see these terms). There have been no further descriptions in the literature since 1962. Visit the Orphanet disease page for more resources.

MalaCards based summary : Polydactyly, Preaxial Iii, also known as ppd3, is related to obsolete: polydactyly of an index finger, unilateral and obsolete: polydactyly of an index finger, bilateral. Affiliated tissues include brain, bone and testes, and related phenotypes are triphalangeal thumb and preaxial polydactyly

More information from OMIM: 174600 PS174400

Related Diseases for Polydactyly, Preaxial Iii

Diseases in the Polydactyly, Preaxial Ii family:

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

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

# Related Disease Score Top Affiliating Genes
1 obsolete: polydactyly of an index finger, unilateral 11.4
2 obsolete: polydactyly of an index finger, bilateral 11.4
3 polydactyly 10.0

Symptoms & Phenotypes for Polydactyly, Preaxial Iii

Human phenotypes related to Polydactyly, Preaxial Iii:

31
# Description HPO Frequency HPO Source Accession
1 triphalangeal thumb 31 HP:0001199
2 preaxial polydactyly 31 HP:0100258

Symptoms via clinical synopsis from OMIM:

56
Limbs:
preaxial polydactyly
thumb replaced by one or two triphalangeal digits
occasionl polydactyly of 1st or 2nd toes

Radiology:
distal epiphyses for metacarpals of accessory digits

Clinical features from OMIM:

174600

Drugs & Therapeutics for Polydactyly, Preaxial Iii

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

Genetic Tests for Polydactyly, Preaxial Iii

Anatomical Context for Polydactyly, Preaxial Iii

MalaCards organs/tissues related to Polydactyly, Preaxial Iii:

40
Brain, Bone, Testes, Lung, Fetal Brain

Publications for Polydactyly, Preaxial Iii

Articles related to Polydactyly, Preaxial Iii:

(show all 16)
# Title Authors PMID Year
1
Hereditary index finger polydactyly: phenotypic, radiological, dermatoglyphic, and genetic findings in a large family. 56
1018306 1976
2
CONGENITAL ABNORMALITIES OF THE LIMBS. 56
14048524 1963
3
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
4
Dietary Probiotic Compound Improves Reproductive Performance of Porcine Epidemic Diarrhea Virus-Infected Sows Reared in a Japanese Commercial Swine Farm under Vaccine Control Condition. 61
29312349 2017
5
Inflammatory mediator polymorphisms associate with initial periodontitis in adolescents. 61
29744169 2016
6
Effects of caesarean section on serum levels of NT-proBNP. 61
22816599 2013
7
Effect of experimental genital mycoplasmosis on gene expression in the fetal brain. 61
22244476 2012
8
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. 61
18417549 2008
9
[Duration of the period before heading and test for allelism in Ppd-lines of different origin]. 61
16792018 2006
10
Heritability of LDL peak particle diameter in the Quebec Family Study. 61
14639707 2003
11
Pups presence eliminates the stress hyporesponsiveness of early lactating females to a psychological stress representing a threat to the pups. 61
12694374 2003
12
Diphosphonucleotide phosphatase/phosphodiesterase from yellow lupin (Lupinus luteus L.) belongs to a novel group of specific metallophosphatases. 61
12023036 2002
13
Purified protein derivative reaction in systemic lupus erythematosus patients. Indirect study of cellular immunity. 61
11898915 2002
14
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. 61
10869115 2000
15
The influence of Calmette-Guérin bacillus immunization on the booster effect of tuberculin testing in healthy young adults. 61
2368973 1990
16
Cloning and expression of the Pseudomonas aeruginosa exoenzyme S toxin gene. 61
2117226 1990

Variations for Polydactyly, Preaxial Iii

Expression for Polydactyly, Preaxial Iii

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

Pathways for Polydactyly, Preaxial Iii

GO Terms for Polydactyly, Preaxial Iii

Sources for Polydactyly, Preaxial Iii

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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