MCID: PLY137
MIFTS: 16

Polydactyly, Preaxial Iii

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

Aliases & Classifications for Polydactyly, Preaxial Iii

MalaCards integrated aliases for Polydactyly, Preaxial Iii:

Name: Polydactyly, Preaxial Iii 54 69
Polydactyly of an Index Finger 50 56
Preaxial Polydactyly Type 3 50 56
Ppd3 50 56
Index Finger Polydactyly 50

Characteristics:

Orphanet epidemiological data:

56
polydactyly of an index finger
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
polydactyly, preaxial iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 174600
Orphanet 56 ORPHA93337
UMLS via Orphanet 70 C1868113
ICD10 via Orphanet 34 Q69.0

Summaries for Polydactyly, Preaxial Iii

NIH Rare Diseases : 50 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, Type Iv Polydactyly, Preaxial Type Ii
Polydactyly, Preaxial I Polydactyly, Preaxial Iii

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

id Related Disease Score Top Affiliating Genes
1 polydactyly of an index finger, unilateral 11.0
2 polydactyly of an index finger, bilateral 11.0

Symptoms & Phenotypes for Polydactyly, Preaxial Iii

Symptoms via clinical synopsis from OMIM:

54

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:

32
id Description HPO Frequency HPO Source Accession
1 triphalangeal thumb 32 HP:0001199
2 preaxial polydactyly 32 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:

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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