MCID: PLY148
MIFTS: 31

Polydactyly, Preaxial Ii

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

Aliases & Classifications for Polydactyly, Preaxial Ii

MalaCards integrated aliases for Polydactyly, Preaxial Ii:

Name: Polydactyly, Preaxial Ii 57 29 6 73
Triphalangeal Thumb-Polysyndactyly Syndrome 57 53 59 75 37
Ppd2 57 53 59 75
Polydactyly, Preaxial Type Ii 57 13 40
Triphalangeal Thumb Polysyndactyly Syndrome 29 6
Polydactyly of a Triphalangeal Thumb 53 59
Preaxial Polydactyly Type 2 53 59
Triphalangeal Thumb-Polydactyly Syndrome 57
Polydactyly of Triphalangeal Thumb 57
Polydactyly, Preaxial, Type Ii 40
Triphalangeal Thumb, Type I 57
Preaxial Polydactyly 2 75
Tpt-Ps Syndrome 59
Tptps 75

Characteristics:

Orphanet epidemiological data:

59
triphalangeal thumb-polysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
polydactyly of a triphalangeal thumb
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
polydactyly, preaxial ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 174500
ICD10 via Orphanet 34 Q74.8 Q69.1
MESH via Orphanet 45 C536563
UMLS via Orphanet 74 C1969369 C1868114
KEGG 37 H00855
UMLS 73 C1868114

Summaries for Polydactyly, Preaxial Ii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93336Disease definitionPolydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia (see these terms).Visit the Orphanet disease page for more resources.

MalaCards based summary : Polydactyly, Preaxial Ii, also known as triphalangeal thumb-polysyndactyly syndrome, is related to syndactyly, type iv and polydactyly. An important gene associated with Polydactyly, Preaxial Ii is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include bone, and related phenotypes are syndactyly and postaxial hand polydactyly

UniProtKB/Swiss-Prot : 75 Preaxial polydactyly 2: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. Triphalangeal thumb-polysyndactyly syndrome: Autosomal dominant syndrome. It is characterized by a wide spectrum of pre- and post-axial abnormalities due to altered SHH expression pattern during limb development.

Description from OMIM: 174500

Related Diseases for Polydactyly, Preaxial Ii

Diseases in the Polydactyly, Preaxial Ii family:

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

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

# Related Disease Score Top Affiliating Genes
1 syndactyly, type iv 29.9 LMBR1 SHH
2 polydactyly 28.6 LMBR1 SHH
3 split-foot deformity with mandibulofacial dysostosis 11.2
4 tibial hemimelia 10.3
5 radial hemimelia 9.6 LMBR1 SHH
6 tibia, hypoplasia or aplasia of, with polydactyly 9.6 LMBR1 SHH
7 laurin-sandrow syndrome 9.5 LMBR1 SHH
8 acheiropody 9.4 LMBR1 SHH
9 physical disorder 9.3 LMBR1 SHH
10 autosomal dominant disease 9.2 LMBR1 SHH

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



Diseases related to Polydactyly, Preaxial Ii

Symptoms & Phenotypes for Polydactyly, Preaxial Ii

Symptoms via clinical synopsis from OMIM:

57
Limbs:
preaxial polydactyly
duplication of distal thumb phalanx
opposable triphalangeal thumbs
duplication of great toes


Clinical features from OMIM:

174500

Human phenotypes related to Polydactyly, Preaxial Ii:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 syndactyly 32 frequent (33%) HP:0001159
2 postaxial hand polydactyly 32 frequent (33%) HP:0001162
3 preaxial hand polydactyly 32 hallmark (90%) HP:0001177
4 postaxial foot polydactyly 32 frequent (33%) HP:0001830
5 preaxial foot polydactyly 32 frequent (33%) HP:0001841
6 opposable triphalangeal thumb 32 hallmark (90%) HP:0005866
7 complete duplication of distal phalanx of the thumb 32 HP:0009606
8 duplication of phalanx of hallux 32 frequent (33%) HP:0010066

MGI Mouse Phenotypes related to Polydactyly, Preaxial Ii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 LMBR1 SHH

Drugs & Therapeutics for Polydactyly, Preaxial Ii

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

Genetic Tests for Polydactyly, Preaxial Ii

Genetic tests related to Polydactyly, Preaxial Ii:

# Genetic test Affiliating Genes
1 Polydactyly, Preaxial Ii 29 LMBR1
2 Triphalangeal Thumb Polysyndactyly Syndrome 29

Anatomical Context for Polydactyly, Preaxial Ii

MalaCards organs/tissues related to Polydactyly, Preaxial Ii:

41
Bone

Publications for Polydactyly, Preaxial Ii

Articles related to Polydactyly, Preaxial Ii:

# Title Authors Year
1
Mutation analysis of a Chinese pedigree with triphalangeal thumb-polysyndactyly syndrome. ( 24535850 )
2014
2
Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. ( 23793141 )
2013
3
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. ( 18178630 )
2008
4
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb- specific SHH enhancer. ( 18417549 )
2008
5
A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family. ( 17300748 )
2007
6
Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family. ( 10869115 )
2000
7
Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. ( 10594878 )
1999
8
An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36. ( 8958333 )
1996

Variations for Polydactyly, Preaxial Ii

ClinVar genetic disease variations for Polydactyly, Preaxial Ii:

6
(show top 50) (show all 185)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.423+4618C> G single nucleotide variant Pathogenic rs606231146 GRCh38 Chromosome 7, 156791771: 156791771
2 LMBR1 NM_022458.3(LMBR1): c.423+4618C> G single nucleotide variant Pathogenic rs606231146 GRCh37 Chromosome 7, 156584465: 156584465
3 LMBR1 NM_022458.3(LMBR1): c.423+4818A> T single nucleotide variant Pathogenic rs606231148 GRCh38 Chromosome 7, 156791571: 156791571
4 LMBR1 NM_022458.3(LMBR1): c.423+4818A> T single nucleotide variant Pathogenic rs606231148 GRCh37 Chromosome 7, 156584265: 156584265
5 LMBR1 NM_022458.3(LMBR1): c.423+4842T> C single nucleotide variant Pathogenic rs606231149 GRCh38 Chromosome 7, 156791547: 156791547
6 LMBR1 NM_022458.3(LMBR1): c.423+4842T> C single nucleotide variant Pathogenic rs606231149 GRCh37 Chromosome 7, 156584241: 156584241
7 LMBR1 NG_009240.1: g.(71605_101850)_(134420_151298)dup duplication Pathogenic GRCh37 Chromosome 7, 156539605: 156619298
8 LMBR1 NG_009240.1: g.(71605_101850)_(134420_151298)dup duplication Pathogenic GRCh38 Chromosome 7, 156746911: 156826604
9 LMBR1 NM_022458.3(LMBR1): c.423+5252A> G single nucleotide variant Pathogenic rs606231150 GRCh38 Chromosome 7, 156791137: 156791137
10 LMBR1 NM_022458.3(LMBR1): c.423+5252A> G single nucleotide variant Pathogenic rs606231150 GRCh37 Chromosome 7, 156583831: 156583831
11 LMBR1 NM_022458.3(LMBR1): c.423+5134C> G single nucleotide variant Pathogenic rs606231151 GRCh38 Chromosome 7, 156791255: 156791255
12 LMBR1 NM_022458.3(LMBR1): c.423+5134C> G single nucleotide variant Pathogenic rs606231151 GRCh37 Chromosome 7, 156583949: 156583949
13 LMBR1 LMBR1, 589-KB DUP, IVS5 duplication Pathogenic
14 LMBR1 NM_022458.3(LMBR1): c.423+4808T> C single nucleotide variant Pathogenic rs606231152 GRCh38 Chromosome 7, 156791581: 156791581
15 LMBR1 NM_022458.3(LMBR1): c.423+4808T> C single nucleotide variant Pathogenic rs606231152 GRCh37 Chromosome 7, 156584275: 156584275
16 LMBR1 NM_022458.3(LMBR1): c.423+4909C> T single nucleotide variant Pathogenic rs606231153 GRCh38 Chromosome 7, 156791480: 156791480
17 LMBR1 NM_022458.3(LMBR1): c.423+4909C> T single nucleotide variant Pathogenic rs606231153 GRCh37 Chromosome 7, 156584174: 156584174
18 LMBR1 NM_022458.3(LMBR1): c.423+4810G> A single nucleotide variant Pathogenic rs606231230 GRCh38 Chromosome 7, 156791579: 156791579
19 LMBR1 NM_022458.3(LMBR1): c.423+4810G> A single nucleotide variant Pathogenic rs606231230 GRCh37 Chromosome 7, 156584273: 156584273
20 LMBR1 NM_022458.3(LMBR1): c.423+4847T> G single nucleotide variant Pathogenic rs606231231 GRCh38 Chromosome 7, 156791542: 156791542
21 LMBR1 NM_022458.3(LMBR1): c.423+4847T> G single nucleotide variant Pathogenic rs606231231 GRCh37 Chromosome 7, 156584236: 156584236
22 LMBR1 NM_022458.3(LMBR1): c.423+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh38 Chromosome 7, 156791474: 156791474
23 LMBR1 NM_022458.3(LMBR1): c.423+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh37 Chromosome 7, 156584168: 156584168
24 LMBR1 NM_022458.3(LMBR1): c.843G> A (p.Arg281=) single nucleotide variant Conflicting interpretations of pathogenicity rs140806590 GRCh37 Chromosome 7, 156521410: 156521410
25 LMBR1 NM_022458.3(LMBR1): c.843G> A (p.Arg281=) single nucleotide variant Conflicting interpretations of pathogenicity rs140806590 GRCh38 Chromosome 7, 156728716: 156728716
26 LMBR1 NM_022458.3(LMBR1): c.528C> G (p.Ala176=) single nucleotide variant Benign/Likely benign rs138255184 GRCh37 Chromosome 7, 156556385: 156556385
27 LMBR1 NM_022458.3(LMBR1): c.528C> G (p.Ala176=) single nucleotide variant Benign/Likely benign rs138255184 GRCh38 Chromosome 7, 156763691: 156763691
28 LMBR1 NM_022458.3(LMBR1): c.*2926G> C single nucleotide variant Likely benign rs148658727 GRCh37 Chromosome 7, 156473846: 156473846
29 LMBR1 NM_022458.3(LMBR1): c.*2926G> C single nucleotide variant Likely benign rs148658727 GRCh38 Chromosome 7, 156681152: 156681152
30 LMBR1 NM_022458.3(LMBR1): c.*2667A> T single nucleotide variant Likely benign rs187134101 GRCh37 Chromosome 7, 156474105: 156474105
31 LMBR1 NM_022458.3(LMBR1): c.*2667A> T single nucleotide variant Likely benign rs187134101 GRCh38 Chromosome 7, 156681411: 156681411
32 LMBR1 NM_022458.3(LMBR1): c.*2500A> G single nucleotide variant Likely benign rs566692462 GRCh37 Chromosome 7, 156474272: 156474272
33 LMBR1 NM_022458.3(LMBR1): c.*2500A> G single nucleotide variant Likely benign rs566692462 GRCh38 Chromosome 7, 156681578: 156681578
34 LMBR1 NM_022458.3(LMBR1): c.*2065A> G single nucleotide variant Likely benign rs146931391 GRCh37 Chromosome 7, 156474707: 156474707
35 LMBR1 NM_022458.3(LMBR1): c.*2089G> A single nucleotide variant Benign rs17837686 GRCh37 Chromosome 7, 156474683: 156474683
36 LMBR1 NM_022458.3(LMBR1): c.*2089G> A single nucleotide variant Benign rs17837686 GRCh38 Chromosome 7, 156681989: 156681989
37 LMBR1 NM_022458.3(LMBR1): c.*2081G> A single nucleotide variant Likely benign rs113867033 GRCh37 Chromosome 7, 156474691: 156474691
38 LMBR1 NM_022458.3(LMBR1): c.*2081G> A single nucleotide variant Likely benign rs113867033 GRCh38 Chromosome 7, 156681997: 156681997
39 LMBR1 NM_022458.3(LMBR1): c.*2065A> G single nucleotide variant Likely benign rs146931391 GRCh38 Chromosome 7, 156682013: 156682013
40 LMBR1 NM_022458.3(LMBR1): c.*1797G> C single nucleotide variant Benign rs113036233 GRCh37 Chromosome 7, 156474975: 156474975
41 LMBR1 NM_022458.3(LMBR1): c.*1797G> C single nucleotide variant Benign rs113036233 GRCh38 Chromosome 7, 156682281: 156682281
42 LMBR1 NM_022458.3(LMBR1): c.*1357A> G single nucleotide variant Likely benign rs568810522 GRCh37 Chromosome 7, 156475415: 156475415
43 LMBR1 NM_022458.3(LMBR1): c.*1357A> G single nucleotide variant Likely benign rs568810522 GRCh38 Chromosome 7, 156682721: 156682721
44 LMBR1 NM_022458.3(LMBR1): c.*728G> A single nucleotide variant Uncertain significance rs886062116 GRCh38 Chromosome 7, 156683350: 156683350
45 LMBR1 NM_022458.3(LMBR1): c.*728G> A single nucleotide variant Uncertain significance rs886062116 GRCh37 Chromosome 7, 156476044: 156476044
46 LMBR1 NM_022458.3(LMBR1): c.*305G> A single nucleotide variant Uncertain significance rs771023322 GRCh37 Chromosome 7, 156476467: 156476467
47 LMBR1 NM_022458.3(LMBR1): c.*305G> A single nucleotide variant Uncertain significance rs771023322 GRCh38 Chromosome 7, 156683773: 156683773
48 LMBR1 NM_022458.3(LMBR1): c.*303T> C single nucleotide variant Likely benign rs115465818 GRCh37 Chromosome 7, 156476469: 156476469
49 LMBR1 NM_022458.3(LMBR1): c.*303T> C single nucleotide variant Likely benign rs115465818 GRCh38 Chromosome 7, 156683775: 156683775
50 LMBR1 NM_022458.3(LMBR1): c.*91C> T single nucleotide variant Benign rs75853117 GRCh37 Chromosome 7, 156476681: 156476681

Expression for Polydactyly, Preaxial Ii

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

Pathways for Polydactyly, Preaxial Ii

Pathways related to Polydactyly, Preaxial Ii according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Polydactyly, Preaxial Ii

Biological processes related to Polydactyly, Preaxial Ii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.62 LMBR1 SHH

Sources for Polydactyly, Preaxial Ii

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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