MCID: OBS412
MIFTS: 14

Obsolete: Preaxial Polydactyly of Toes

Categories: Rare diseases

Aliases & Classifications for Obsolete: Preaxial Polydactyly of Toes

MalaCards integrated aliases for Obsolete: Preaxial Polydactyly of Toes:

Name: Obsolete: Preaxial Polydactyly of Toes 58
Preaxial Polydactyly of Foot 58
Preaxial Foot Polydactyly 6
Bifid Great Toes 58
Bifid Halluces 58
Bifid Hallux 58

Classifications:



External Ids:

Orphanet 58 ORPHA295006

Summaries for Obsolete: Preaxial Polydactyly of Toes

MalaCards based summary : Obsolete: Preaxial Polydactyly of Toes, also known as preaxial polydactyly of foot, is related to obsolete: preaxial polydactyly of toes, bilateral and obsolete: preaxial polydactyly of toes, unilateral. An important gene associated with Obsolete: Preaxial Polydactyly of Toes is INPP5E (Inositol Polyphosphate-5-Phosphatase E). Affiliated tissues include bone and lung, and related phenotypes are Increased cilium length after serum starvation and Increased cilium length after serum starvation

Related Diseases for Obsolete: Preaxial Polydactyly of Toes

Graphical network of the top 20 diseases related to Obsolete: Preaxial Polydactyly of Toes:



Diseases related to Obsolete: Preaxial Polydactyly of Toes

Symptoms & Phenotypes for Obsolete: Preaxial Polydactyly of Toes

GenomeRNAi Phenotypes related to Obsolete: Preaxial Polydactyly of Toes according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.23 INPP5E TNFRSF13B
2 Increased cilium length after serum starvation GR00149-A-2 9.23 INPP5E TNFRSF13B

Drugs & Therapeutics for Obsolete: Preaxial Polydactyly of Toes

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Genetic Tests for Obsolete: Preaxial Polydactyly of Toes

Anatomical Context for Obsolete: Preaxial Polydactyly of Toes

MalaCards organs/tissues related to Obsolete: Preaxial Polydactyly of Toes:

40
Bone, Lung

Publications for Obsolete: Preaxial Polydactyly of Toes

Articles related to Obsolete: Preaxial Polydactyly of Toes:

# Title Authors PMID Year
1
Foot Function in Patients With Surgically Treated Preaxial Polydactyly of the Foot Compared With Age- and Sex-Matched Healthy Controls. 61
30569754 2019
2
The spectrum of preaxial polydactyly of the foot. 61
21572282 2011

Variations for Obsolete: Preaxial Polydactyly of Toes

ClinVar genetic disease variations for Obsolete: Preaxial Polydactyly of Toes:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INPP5E NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)SNV Pathogenic/Likely pathogenic 400 rs121918130 9:139327634-139327634 9:136433182-136433182
2 TNFRSF13B NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg)SNV risk factor 5302 rs34557412 17:16852187-16852187 17:16948873-16948873
3 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)SNV Uncertain significance 167818 rs142594314 1:116206600-116206600 1:115663979-115663979

Expression for Obsolete: Preaxial Polydactyly of Toes

Search GEO for disease gene expression data for Obsolete: Preaxial Polydactyly of Toes.

Pathways for Obsolete: Preaxial Polydactyly of Toes

GO Terms for Obsolete: Preaxial Polydactyly of Toes

Sources for Obsolete: Preaxial Polydactyly of Toes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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