MCID: PLY149
MIFTS: 25

Polydactyly, Preaxial Iv

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

Aliases & Classifications for Polydactyly, Preaxial Iv

MalaCards integrated aliases for Polydactyly, Preaxial Iv:

Name: Polydactyly, Preaxial Iv 57
Polydactyly, Preaxial, Type Iv 57 13 40
Preaxial Polydactyly 4 53 29 6
Preaxial Polydactyly Type 4 53 59
Polydactyly Preaxial 4 53 75
Polysyndactyly 53 59
Ppd4 53 59
Polysyndactyly, Uncomplicated 57
Polysyndactyly Uncomplicated 53
Type Iv Preaxial Polydactyly 75
Pop4 75

Characteristics:

Orphanet epidemiological data:

59
polysyndactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polydactyly, preaxial iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 174700
Orphanet 59 ORPHA93338
UMLS via Orphanet 74 C0265553 C1868111
ICD10 via Orphanet 34 Q70.4
ICD10 33 Q70.4
SNOMED-CT via HPO 69 263681008 205135003

Summaries for Polydactyly, Preaxial Iv

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93338Disease definitionPolysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.Visit the Orphanet disease page for more resources.

MalaCards based summary : Polydactyly, Preaxial Iv, also known as polydactyly, preaxial, type iv, is related to congenital heart defects, hamartomas of tongue, and polysyndactyly and polysyndactyly, crossed. An important gene associated with Polydactyly, Preaxial Iv is GLI3 (GLI Family Zinc Finger 3). Affiliated tissues include bone, and related phenotypes are abnormality of earlobe and dysplastic distal thumb phalanges with a central hole

UniProtKB/Swiss-Prot : 75 Polydactyly preaxial 4: Preaxial polydactyly (i.e., polydactyly on the radial/tibial side of the hand/foot) covers a heterogeneous group of entities. In preaxial polydactyly type IV, the thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4.

Description from OMIM: 174700

Related Diseases for Polydactyly, Preaxial Iv

Diseases in the Polydactyly, Preaxial Ii family:

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

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 12.2
2 polysyndactyly, crossed 12.2
3 polysyndactyly with cardiac malformation 12.1
4 curry-jones syndrome 12.0
5 polydactyly, preaxial ii 11.9
6 hallux varus and preaxial polysyndactyly 11.9
7 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 11.8
8 heart defect, tongue hamartoma and polysyndactyly 11.8
9 polysyndactyly trigonocephaly agenesis of corpus callosum 11.8
10 short ribs craniosynostosis polysyndactyly 11.8
11 syndactyly, type iv 11.7
12 acrofrontofacionasal dysostosis 2 11.6
13 laurin-sandrow syndrome 11.3
14 tibial hemimelia 11.2
15 acrocallosal syndrome 11.2
16 tibia, hypoplasia or aplasia of, with polydactyly 11.1
17 greig cephalopolysyndactyly syndrome 11.0
18 carpenter syndrome 2 11.0
19 acrofrontofacionasal dysostosis 1 10.9
20 acrofrontofacionasal dysostosis 10.9
21 short-rib thoracic dysplasia 7 with or without polydactyly 10.9
22 orofaciodigital syndrome xviii 10.9
23 barnicoat baraitser syndrome 10.8
24 hirschsprung disease polydactyly heart disease 10.8
25 kleiner holmes syndrome 10.8
26 laurence prosser rocker syndrome 10.8
27 orstavik lindemann solberg syndrome 10.8
28 piepkorn karp hickok syndrome 10.8
29 polydactyly 9.9
30 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
31 craniosynostosis 9.9
32 fibromatosis, gingival, with progressive deafness 9.8
33 pallister-hall syndrome 9.8
34 carpenter syndrome 1 9.8
35 hypothalamic hamartomas 9.8
36 choanal atresia, posterior 9.8
37 nevus comedonicus 9.8
38 ectodermal dysplasia 9.8
39 sclerocornea 9.8
40 synostosis 9.8
41 aortic coarctation 9.8
42 fibular hemimelia 9.8

Graphical network of the top 20 diseases related to Polydactyly, Preaxial Iv:



Diseases related to Polydactyly, Preaxial Iv

Symptoms & Phenotypes for Polydactyly, Preaxial Iv

Symptoms via clinical synopsis from OMIM:

57
Limbs:
preaxial polydactyly
mild thumb duplication
syndactyly fingers 3 and 4
first or second toe duplication
syndactyly of all toes
more
Radiology:
dysplastic distal thumb phalanges with a central hole

Ears:
abnormal earlobes


Clinical features from OMIM:

174700

Human phenotypes related to Polydactyly, Preaxial Iv:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of earlobe 32 HP:0000363
2 dysplastic distal thumb phalanges with a central hole 32 HP:0005688
3 3-4 finger syndactyly 32 HP:0006097
4 1-5 toe syndactyly 32 HP:0010713
5 preaxial polydactyly 32 HP:0100258

Drugs & Therapeutics for Polydactyly, Preaxial Iv

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

Genetic Tests for Polydactyly, Preaxial Iv

Genetic tests related to Polydactyly, Preaxial Iv:

# Genetic test Affiliating Genes
1 Preaxial Polydactyly 4 29 GLI3

Anatomical Context for Polydactyly, Preaxial Iv

MalaCards organs/tissues related to Polydactyly, Preaxial Iv:

41
Bone

Publications for Polydactyly, Preaxial Iv

Variations for Polydactyly, Preaxial Iv

ClinVar genetic disease variations for Polydactyly, Preaxial Iv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 GLI3, 1-BP INS, 3647C insertion Pathogenic
2 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
3 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh38 Chromosome 7, 42040198: 42040198

Expression for Polydactyly, Preaxial Iv

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

Pathways for Polydactyly, Preaxial Iv

GO Terms for Polydactyly, Preaxial Iv

Sources for Polydactyly, Preaxial Iv

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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