PPD4
MCID: PLY149
MIFTS: 29

Polydactyly, Preaxial Iv (PPD4)

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
Ppd4 58 54 60
Preaxial Polydactyly Type 4 54 60
Polydactyly Preaxial 4 54 76
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

Miscellaneous:
intrafamilial phenotypic variability
some patients have only foot involvement
hand polydactyly only seen in individuals with foot polydactyly


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

OMIM : 58 Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly (McClintic, 1935), the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. (174700)

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 heart, bone and tongue, and related phenotypes are abnormality of earlobe and 3-4 finger syndactyly

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.

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.

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 56)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 12.5
2 polysyndactyly, crossed 12.4
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 12.1
7 heart defect-tongue hamartoma-polysyndactyly syndrome 12.1
8 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 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 11.9
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 11.2
24 acrofrontofacionasal dysostosis 11.2
25 polydactyly, preaxial i 11.0
26 short-rib thoracic dysplasia 7 with or without polydactyly 11.0
27 barnicoat baraitser syndrome 11.0
28 chromosome 2q35 duplication syndrome 10.3
29 polydactyly 10.2
30 apert syndrome 10.2
31 hypertelorism 10.2
32 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
33 craniosynostosis 10.1
34 ptosis 10.1
35 hypospadias 10.1
36 synostosis 10.1
37 microcephaly 10.1
38 cleft palate, isolated 9.9
39 fibromatosis, gingival, with progressive deafness 9.9
40 pallister-hall syndrome 9.9
41 keloid formation 9.9
42 carpenter syndrome 1 9.9
43 anus, imperforate 9.9
44 focal dermal hypoplasia 9.9
45 preaxial hallucal polydactyly 9.9
46 choanal atresia, posterior 9.9
47 nevus comedonicus 9.9
48 ectodermal dysplasia 9.9
49 keloids 9.9
50 tooth agenesis 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 3-4 finger syndactyly 33 HP:0006097
3 preaxial polydactyly 33 HP:0100258
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
Skeletal Hands:
duplicated thumb, mild
syndactyly of 3rd and 4th fingers
bilateral duplication of 5th fingers (in some patients)
unilateral triplication of 5th finger (in some patients)

Skeletal Feet:
duplication of great toe, bilateral
variable syndactyly of toes

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
Heart, Bone, Tongue

Publications for Polydactyly, Preaxial Iv

Articles related to Polydactyly, Preaxial Iv:

# Title Authors Year
1
The Greig cephalopolysyndactyly syndrome. ( 18435847 )
2008
2
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. ( 15811011 )
2005
3
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. ( 15739154 )
2005
4
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. ( 10441570 )
1999
5
Preaxial polydactyly type 4: variability in a large kindred. ( 6705259 )
1984
6
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. ( 6641002 )
1983

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
4 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh37 Chromosome 7, 42005553: 42005553
5 GLI3 NM_000168.5(GLI3): c.3118G> A (p.Glu1040Lys) single nucleotide variant Uncertain significance rs772839719 GRCh38 Chromosome 7, 41965955: 41965955
6 GLI3 NM_000168.5(GLI3): c.241G> A (p.Glu81Lys) single nucleotide variant Uncertain significance rs376725882 GRCh37 Chromosome 7, 42187951: 42187951
7 GLI3 NM_000168.5(GLI3): c.241G> A (p.Glu81Lys) single nucleotide variant Uncertain significance rs376725882 GRCh38 Chromosome 7, 42148352: 42148352
8 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh38 Chromosome 7, 41965789: 41965789
9 GLI3 NM_000168.5(GLI3): c.3284A> G (p.Asp1095Gly) single nucleotide variant Uncertain significance rs1554304659 GRCh37 Chromosome 7, 42005387: 42005387

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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