MCID: PLY137
MIFTS: 17

Polydactyly, Preaxial Iii

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

Aliases & Classifications for Polydactyly, Preaxial Iii

MalaCards integrated aliases for Polydactyly, Preaxial Iii:

Name: Polydactyly, Preaxial Iii 53 69
Polydactyly of an Index Finger 49 55
Preaxial Polydactyly Type 3 49 55
Index Finger Polydactyly 53 49
Ppd3 49 55

Characteristics:

Orphanet epidemiological data:

55
polydactyly of an index finger
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
polydactyly, preaxial iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 174600
Orphanet 55 ORPHA93337
UMLS via Orphanet 70 C1868113
ICD10 via Orphanet 33 Q69.0
MedGen 39 C1868113
SNOMED-CT via HPO 65 263681008 205308004 205135003
UMLS 69 C1868113

Summaries for Polydactyly, Preaxial Iii

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93337Disease definitionPolydactyly 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. Last updated: 6/10/2014

MalaCards based summary : Polydactyly, Preaxial Iii, also known as polydactyly of an index finger, is related to polydactyly of an index finger, unilateral and polydactyly of an index finger, bilateral, and has symptoms including triphalangeal thumb and preaxial polydactyly. Affiliated tissues include bone.

Description from OMIM: 174600

Related Diseases for Polydactyly, Preaxial Iii

Diseases in the Preaxial Polydactyly of Toes family:

Polydactyly, Preaxial I Polydactyly, Preaxial Ii
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 polydactyly of an index finger, unilateral 11.1
2 polydactyly of an index finger, bilateral 11.1

Symptoms & Phenotypes for Polydactyly, Preaxial Iii

Symptoms via clinical synopsis from OMIM:

53
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

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

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:

38
Bone

Publications for Polydactyly, Preaxial Iii

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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