POP4
MCID: PLY149
MIFTS: 26

Polydactyly, Preaxial Iv (POP4)

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

Aliases & Classifications for Polydactyly, Preaxial Iv

MalaCards integrated aliases for Polydactyly, Preaxial Iv:

Name: Polydactyly, Preaxial Iv 58
Polydactyly, Preaxial, Type Iv 58 13 41
Preaxial Polydactyly 4 54 30 6
Polysyndactyly 54 60 38
Preaxial Polydactyly Type 4 54 60
Polydactyly Preaxial 4 54 76
Ppd4 54 60
Polysyndactyly, Uncomplicated 58
Polysyndactyly Uncomplicated 54
Type Iv Preaxial Polydactyly 76
Pop4 76

Characteristics:

Orphanet epidemiological data:

60
polysyndactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
polydactyly, preaxial iv:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 174700
KEGG 38 H01226
ICD10 34 Q70.4
ICD10 via Orphanet 35 Q70.4
UMLS via Orphanet 75 C0265553 C1868111
Orphanet 60 ORPHA93338
SNOMED-CT via HPO 70 205135003 263681008

Summaries for Polydactyly, Preaxial Iv

NIH Rare Diseases : 54 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), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include bone, and related phenotypes are abnormality of earlobe and preaxial polydactyly

UniProtKB/Swiss-Prot : 76 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 top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 12.5
2 polysyndactyly, crossed 12.3
3 polysyndactyly with cardiac malformation 12.3
4 curry-jones syndrome 12.1
5 polydactyly, preaxial ii 12.1
6 hallux varus and preaxial polysyndactyly 12.0
7 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 12.0
8 heart defect, tongue hamartoma and polysyndactyly 12.0
9 polysyndactyly trigonocephaly agenesis of corpus callosum 12.0
10 short ribs craniosynostosis polysyndactyly 12.0
11 acrofrontofacionasal dysostosis 2 11.9
12 syndactyly, type iv 11.8
13 kleiner holmes syndrome 11.7
14 laurin-sandrow syndrome 11.5
15 tibial hemimelia 11.4
16 acrocallosal syndrome 11.4
17 tibia, hypoplasia or aplasia of, with polydactyly 11.3
18 piepkorn karp hickok syndrome 11.3
19 greig cephalopolysyndactyly syndrome 11.2
20 carpenter syndrome 2 11.2
21 orofaciodigital syndrome xviii 11.2
22 absence of tibia with polydactyly 11.2
23 acrofrontofacionasal dysostosis 1 11.1
24 acrofrontofacionasal dysostosis 11.1
25 short-rib thoracic dysplasia 7 with or without polydactyly 11.0
26 barnicoat baraitser syndrome 11.0
27 hirschsprung disease polydactyly heart disease 11.0
28 laurence prosser rocker syndrome 11.0
29 orstavik lindemann solberg syndrome 11.0
30 polydactyly 10.2
31 apert syndrome 10.2
32 hypertelorism 10.2
33 x-linked intellectual disability, stevenson type 10.2
34 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
35 craniosynostosis 10.1
36 ptosis 10.1
37 hypospadias 10.1
38 microcephaly 10.1
39 synostosis 10.1
40 cleft palate, isolated 9.9
41 fibromatosis, gingival, with progressive deafness 9.9
42 pallister-hall syndrome 9.9
43 keloid formation 9.9
44 chromosome 2q35 duplication syndrome 9.9
45 carpenter syndrome 1 9.9
46 anus, imperforate 9.9
47 preaxial hallucal polydactyly 9.9
48 choanal atresia, posterior 9.9
49 nevus comedonicus 9.9
50 ectodermal dysplasia 9.9

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



Diseases related to Polydactyly, Preaxial Iv

Symptoms & Phenotypes for Polydactyly, Preaxial Iv

Human phenotypes related to Polydactyly, Preaxial Iv:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of earlobe 33 HP:0000363
2 preaxial polydactyly 33 HP:0100258
3 3-4 finger syndactyly 33 HP:0006097
4 dysplastic distal thumb phalanges with a central hole 33 HP:0005688
5 1-5 toe syndactyly 33 HP:0010713

Symptoms via clinical synopsis from OMIM:

58
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

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 30 GLI3

Anatomical Context for Polydactyly, Preaxial Iv

MalaCards organs/tissues related to Polydactyly, Preaxial Iv:

42
Bone

Publications for Polydactyly, Preaxial Iv

Articles related to Polydactyly, Preaxial Iv:

# Title Authors Year
1
Preaxial polydactyly type 4: variability in a large kindred. ( 6705259 )
1984

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

Pathways related to Polydactyly, Preaxial Iv according to KEGG:

38
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Polydactyly, Preaxial Iv

Sources for Polydactyly, Preaxial Iv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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