MCID: MCR185
MIFTS: 8

Macrodactyly of Toes

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Macrodactyly of Toes

MalaCards integrated aliases for Macrodactyly of Toes:

Name: Macrodactyly of Toes 59
Macrodactyly of Foot 59
Macrodactyly of Toe 6

Classifications:



External Ids:

Orphanet 59 ORPHA295047
ICD10 via Orphanet 34 Q74.2
UMLS via Orphanet 74 C2931596

Summaries for Macrodactyly of Toes

MalaCards based summary : Macrodactyly of Toes, also known as macrodactyly of foot, is related to macrodactyly of toes, bilateral and macrodactyly of toes, unilateral. An important gene associated with Macrodactyly of Toes is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha).

Related Diseases for Macrodactyly of Toes

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

# Related Disease Score Top Affiliating Genes
1 macrodactyly of toes, bilateral 12.1
2 macrodactyly of toes, unilateral 12.1

Symptoms & Phenotypes for Macrodactyly of Toes

Drugs & Therapeutics for Macrodactyly of Toes

Search Clinical Trials , NIH Clinical Center for Macrodactyly of Toes

Genetic Tests for Macrodactyly of Toes

Anatomical Context for Macrodactyly of Toes

Publications for Macrodactyly of Toes

Variations for Macrodactyly of Toes

ClinVar genetic disease variations for Macrodactyly of Toes:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
2 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297

Expression for Macrodactyly of Toes

Search GEO for disease gene expression data for Macrodactyly of Toes.

Pathways for Macrodactyly of Toes

GO Terms for Macrodactyly of Toes

Sources for Macrodactyly of Toes

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
Content
Loading form....