PPD4
MCID: PLY149
MIFTS: 31

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 57
Polysyndactyly 20 58 36 6 32
Ppd4 57 20 58 72
Polydactyly, Preaxial, Type Iv 57 13 39
Preaxial Polydactyly 4 20 29 6
Polysyndactyly, Uncomplicated 57 72
Preaxial Polydactyly Type 4 20 58
Polysyndactyly Uncomplicated 20
Type Iv Preaxial Polydactyly 72
Polydactyly, Preaxial 4 72
Polydactyly Preaxial 4 20

Characteristics:

Orphanet epidemiological data:

58
polysyndactyly
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
polydactyly, preaxial iv:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 174700
OMIM Phenotypic Series 57 PS174400
KEGG 36 H01226
MeSH 44 D017689
ICD10 32 Q70.4
ICD10 via Orphanet 33 Q70.4
UMLS via Orphanet 71 C0265553 C1868111
Orphanet 58 ORPHA93338
SNOMED-CT via HPO 68 205135003 263681008

Summaries for Polydactyly, Preaxial Iv

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Polydactyly, Preaxial Iv, also known as polysyndactyly, is related to congenital heart defects, hamartomas of tongue, and polysyndactyly and curry-jones syndrome. 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 and tongue, and related phenotypes are abnormality of earlobe and preaxial polydactyly

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93338 Definition Polysyndactyly 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.

KEGG : 36 Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated thumbs, and syndactyly of the third and fourth fingers. GLI3 is regarded as a mediator of sonic hedgehog signaling regulating development at multiple sites such as the limbs, the lungs, and the brain.

UniProtKB/Swiss-Prot : 72 Polydactyly, preaxial 4: A form of polydactyly, a condition defined by the occurrence of supernumerary digits in the upper and/or lower extremities. Preaxial or radial polydactyly refers to the presence of extra digits on the radial side of the hand. PPD4 is an autosomal dominant form characterized by mild duplication of the thumb, syndactyly of various degrees affects fingers 3 and 4, duplication of part or all of the first or second toes and variable toes syndactyly. Some patients have only foot involvement.

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 90)
# Related Disease Score Top Affiliating Genes
1 congenital heart defects, hamartomas of tongue, and polysyndactyly 11.7
2 curry-jones syndrome 11.5
3 polydactyly, preaxial ii 11.5
4 polysyndactyly with cardiac malformation 11.4
5 hallux varus and preaxial polysyndactyly 11.4
6 tibia, hypoplasia or aplasia of, with polydactyly 11.3
7 greig cephalopolysyndactyly syndrome 11.3
8 acrofrontofacionasal dysostosis 2 11.3
9 syndactyly, type iv 11.3
10 laurin-sandrow syndrome 11.2
11 polysyndactyly, crossed 11.2
12 acrofrontofacionasal dysostosis 1 11.0
13 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect 11.0
14 acrofrontofacionasal dysostosis 11.0
15 carpenter syndrome 2 11.0
16 orofaciodigital syndrome xviii 11.0
17 tibial hemimelia 10.9
18 piepkorn karp hickok syndrome 10.9
19 acrocallosal syndrome 10.9
20 carpenter syndrome 1 10.9
21 barnicoat baraitser syndrome 10.9
22 polydactyly, preaxial i 10.9
23 short-rib thoracic dysplasia 7 with or without polydactyly 10.9
24 chromosome 2q35 duplication syndrome 10.6
25 hemimelia 10.2
26 polydactyly 10.1
27 hypertelorism 10.1
28 synostosis 10.1
29 apert syndrome 10.0
30 polydactyly, preaxial iii 10.0
31 brachydactyly 10.0
32 ptosis 10.0
33 craniosynostosis 10.0
34 pallister-hall syndrome 9.9
35 keloid formation 9.9
36 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
37 hypospadias 9.9
38 microcephaly 9.9
39 heart disease 9.9
40 keloid disorder 9.9
41 dwarfism 9.9
42 hypothalamic hamartomas 9.9
43 pfeiffer syndrome 9.8
44 cleft palate, isolated 9.8
45 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.8
46 coloboma of macula 9.8
47 fibromatosis, gingival, with progressive deafness 9.8
48 medulloblastoma 9.8
49 neural tube defects 9.8
50 tetralogy of fallot 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

Human phenotypes related to Polydactyly, Preaxial Iv:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of earlobe 31 HP:0000363
2 preaxial polydactyly 31 HP:0100258
3 3-4 finger syndactyly 31 HP:0006097
4 duplication of thumb phalanx 31 HP:0009942
5 dysplastic distal thumb phalanges with a central hole 31 HP:0005688
6 1-5 toe syndactyly 31 HP:0010713

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Heart, Tongue

Publications for Polydactyly, Preaxial Iv

Articles related to Polydactyly, Preaxial Iv:

(show all 16)
# Title Authors PMID Year
1
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 6 57
15811011 2005
2
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. 6 57
10441570 1999
3
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. 57 6
6641002 1983
4
The Greig cephalopolysyndactyly syndrome. 6
18435847 2008
5
Syndromic and non-syndromic GLI3 phenotypes. 57
16098019 2005
6
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 6
15739154 2005
7
Crossed polydactyly type I in a mother and son: an autosomal dominant trait? 57
1887848 1991
8
Preaxial polydactyly type 4: variability in a large kindred. 57
6705259 1984
9
Hallux syndactyly--ulnar polydactyly--abnormal ear lobes: a new syndrome. 57
182299 1976
10
A FAMILY WITH POLYSYNDACTYLY AND OTHER ANOMALIES. 57
14276178 1965
11
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes. 61
32591344 2020
12
Photochemistry and proteomics of mulberry (Morus alba L.) seedlings under NaCl and NaHCO3 stress. 61
31487570 2019
13
Spinach (Spinacia oleracea L.) modulates its proteome differentially in response to salinity, cadmium and their combination stress. 61
26497449 2015
14
Diphosphonucleotide phosphatase/phosphodiesterase from yellow lupin (Lupinus luteus L.) belongs to a novel group of specific metallophosphatases. 61
12023036 2002
15
Purified protein derivative reaction in systemic lupus erythematosus patients. Indirect study of cellular immunity. 61
11898915 2002
16
The sensitivity and specificity of postbreeding plasma progesterone levels as a pregnancy test for dairy cows. 61
4041979 1985

Variations for Polydactyly, Preaxial Iv

ClinVar genetic disease variations for Polydactyly, Preaxial Iv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI3 NM_000168.6(GLI3):c.3414del (p.His1138fs) Deletion Pathogenic 978018 GRCh37: 7:42005257-42005257
GRCh38: 7:41965659-41965659
2 GLI3 NM_000168.6(GLI3):c.3646dup (p.Leu1216fs) Duplication Pathogenic 13817 rs1583729562 GRCh37: 7:42005024-42005025
GRCh38: 7:41965426-41965427
3 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) SNV Pathogenic 13826 rs121917713 GRCh37: 7:42079797-42079797
GRCh38: 7:42040198-42040198
4 GLI3 NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly) SNV Uncertain significance 435332 rs1554304659 GRCh37: 7:42005387-42005387
GRCh38: 7:41965789-41965789
5 GLI3 NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys) SNV Uncertain significance 265182 rs772839719 GRCh37: 7:42005553-42005553
GRCh38: 7:41965955-41965955
6 GLI3 NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) SNV Uncertain significance 265180 rs376725882 GRCh37: 7:42187951-42187951
GRCh38: 7:42148352-42148352

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:

36
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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