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 59
Preaxial Polydactyly of Foot 59
Preaxial Foot Polydactyly 6
Bifid Great Toes 59
Bifid Halluces 59
Bifid Hallux 59

Classifications:



External Ids:

Orphanet 59 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). Related phenotypes are Increased cilium length after serum starvation and Increased cilium length after serum starvation

Related Diseases for Obsolete: Preaxial Polydactyly of Toes

Diseases related to Obsolete: Preaxial Polydactyly of Toes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 obsolete: preaxial polydactyly of toes, bilateral 12.6
2 obsolete: preaxial polydactyly of toes, unilateral 12.6
3 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 12.5
4 robinow-sorauf syndrome 11.9
5 orofaciodigital syndrome ix 11.5
6 wahab syndrome 11.5
7 polydactyly 10.3
8 mohr syndrome 10.1
9 saethre-chotzen syndrome 10.1
10 femoral-facial syndrome 10.1
11 cryptorchidism, unilateral or bilateral 10.1
12 craniosynostosis 10.1
13 meningoencephalocele 10.1

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

MGI Mouse Phenotypes related to Obsolete: Preaxial Polydactyly of Toes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 INPP5E TNFRSF13B

Drugs & Therapeutics for Obsolete: Preaxial Polydactyly of Toes

Search Clinical Trials , NIH Clinical Center for Obsolete: Preaxial Polydactyly of Toes

Genetic Tests for Obsolete: Preaxial Polydactyly of Toes

Anatomical Context for Obsolete: Preaxial Polydactyly of Toes

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. 38
30569754 2019
2
The spectrum of preaxial polydactyly of the foot. 38
21572282 2011

Variations for Obsolete: Preaxial Polydactyly of Toes

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 INPP5E NM_019892.6(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 9:139327634-139327634 9:136433182-136433182
2 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 17:16852187-16852187 17:16948873-16948873
3 VANGL1 NM_138959.3(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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