MCID: PLY137
MIFTS: 15

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 57 73
Polydactyly of an Index Finger 53 59
Preaxial Polydactyly Type 3 53 59
Index Finger Polydactyly 57 53
Ppd3 53 59

Characteristics:

Orphanet epidemiological data:

59
polydactyly of an index finger
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polydactyly, preaxial iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 174600
Orphanet 59 ORPHA93337
UMLS via Orphanet 74 C1868113
ICD10 via Orphanet 34 Q69.0
MedGen 42 C1868113
SNOMED-CT via HPO 69 263681008 205308004 205135003
UMLS 73 C1868113

Summaries for Polydactyly, Preaxial Iii

NIH Rare Diseases : 53 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.

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

Description from OMIM: 174600

Related Diseases for Polydactyly, Preaxial Iii

Diseases in the Polydactyly, Preaxial Ii family:

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

Symptoms & Phenotypes for Polydactyly, Preaxial Iii

Symptoms via clinical synopsis from OMIM:

57
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
# 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:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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