PPD2
MCID: PLY058
MIFTS: 27

Polydactyly, Preaxial Type Ii (PPD2) malady

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

Aliases & Classifications for Polydactyly, Preaxial Type Ii

Aliases & Descriptions for Polydactyly, Preaxial Type Ii:

Name: Polydactyly, Preaxial Type Ii 54 13
Triphalangeal Thumb-Polysyndactyly Syndrome 54 50 24 56 66 29
Ppd2 50 56 66
Polydactyly of a Triphalangeal Thumb 50 56
Preaxial Polydactyly Type 2 50 56
Polydactyly, Preaxial Ii 54 69
Preaxial Polydactyly 2 66 29
Triphalangeal Thumb, Type I 54
Tpt-Ps Syndrome 56
Tptps 66

Characteristics:

Orphanet epidemiological data:

56
triphalangeal thumb-polysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
polydactyly of a triphalangeal thumb
Inheritance: Autosomal dominant;

HPO:

32
polydactyly, preaxial type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 174500
ICD10 via Orphanet 34 Q74.8 Q69.1
MESH via Orphanet 43 C536563
UMLS via Orphanet 70 C1969369

Summaries for Polydactyly, Preaxial Type Ii

UniProtKB/Swiss-Prot : 66 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.

MalaCards based summary : Polydactyly, Preaxial Type Ii, also known as triphalangeal thumb-polysyndactyly syndrome, is related to syndactyly, type iv and split-foot deformity with mandibulofacial dysostosis, and has symptoms including preaxial hand polydactyly, postaxial hand polydactyly and postaxial foot polydactyly. An important gene associated with Polydactyly, Preaxial Type Ii is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone, and related phenotype is limbs/digits/tail.

Description from OMIM: 174500

Related Diseases for Polydactyly, Preaxial Type Ii

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



Diseases related to Polydactyly, Preaxial Type Ii

Symptoms & Phenotypes for Polydactyly, Preaxial Type Ii

Symptoms by clinical synopsis from OMIM:

174500

Clinical features from OMIM:

174500

Human phenotypes related to Polydactyly, Preaxial Type Ii:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 preaxial hand polydactyly 32 HP:0001177
2 postaxial hand polydactyly 32 HP:0001162
3 postaxial foot polydactyly 32 HP:0001830
4 syndactyly 32 HP:0001159
5 preaxial foot polydactyly 32 HP:0001841
6 complete duplication of distal phalanx of the thumb 32 HP:0009606
7 opposable triphalangeal thumb 32 HP:0005866
8 duplication of thumb phalanx 32 HP:0009942
9 duplication of phalanx of hallux 32 HP:0010066

MGI Mouse Phenotypes related to Polydactyly, Preaxial Type Ii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 LMBR1 SHH

Drugs & Therapeutics for Polydactyly, Preaxial Type Ii

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

Genetic Tests for Polydactyly, Preaxial Type Ii

Genetic tests related to Polydactyly, Preaxial Type Ii:

id Genetic test Affiliating Genes
1 Polydactyly, Preaxial Ii 29
2 Triphalangeal Thumb Polysyndactyly Syndrome 29
3 Triphalangeal Thumb-Polysyndactyly Syndrome 24 LMBR1

Anatomical Context for Polydactyly, Preaxial Type Ii

MalaCards organs/tissues related to Polydactyly, Preaxial Type Ii:

39
Bone

Publications for Polydactyly, Preaxial Type Ii

Variations for Polydactyly, Preaxial Type Ii

ClinVar genetic disease variations for Polydactyly, Preaxial Type Ii:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.423+4618C> G single nucleotide variant Pathogenic rs606231146 GRCh37 Chromosome 7, 156584465: 156584465
2 LMBR1 NM_022458.3(LMBR1): c.423+4818A> T single nucleotide variant Pathogenic rs606231148 GRCh38 Chromosome 7, 156791571: 156791571
3 LMBR1 NM_022458.3(LMBR1): c.423+4842T> C single nucleotide variant Pathogenic rs606231149 GRCh38 Chromosome 7, 156791547: 156791547
4 LMBR1 NG_009240.1: g.(71605_101850)_(134420_151298)dup duplication Pathogenic GRCh37 Chromosome 7, 156539605: 156619298
5 LMBR1 NM_022458.3(LMBR1): c.423+5252A> G single nucleotide variant Pathogenic rs606231150 GRCh38 Chromosome 7, 156791137: 156791137
6 LMBR1 NM_022458.3(LMBR1): c.423+5134C> G single nucleotide variant Pathogenic rs606231151 GRCh38 Chromosome 7, 156791255: 156791255
7 LMBR1 LMBR1, 589-KB DUP, IVS5 duplication Pathogenic
8 LMBR1 NM_022458.3(LMBR1): c.423+4808T> C single nucleotide variant Pathogenic rs606231152 GRCh38 Chromosome 7, 156791581: 156791581
9 LMBR1 NM_022458.3(LMBR1): c.423+4909C> T single nucleotide variant Pathogenic rs606231153 GRCh38 Chromosome 7, 156791480: 156791480
10 LMBR1 NM_022458.3(LMBR1): c.423+4810G> A single nucleotide variant Pathogenic rs606231230 GRCh38 Chromosome 7, 156791579: 156791579
11 LMBR1 NM_022458.3(LMBR1): c.423+4847T> G single nucleotide variant Pathogenic rs606231231 GRCh38 Chromosome 7, 156791542: 156791542
12 LMBR1 NM_022458.3(LMBR1): c.423+4915C> T single nucleotide variant Pathogenic rs587779752 GRCh38 Chromosome 7, 156791474: 156791474

Expression for Polydactyly, Preaxial Type Ii

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

Pathways for Polydactyly, Preaxial Type Ii

GO Terms for Polydactyly, Preaxial Type Ii

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

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

Sources for Polydactyly, Preaxial Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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