MCID: MCR185
MIFTS: 10

Macrodactyly of Toes

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macrodactyly of Toes

MalaCards integrated aliases for Macrodactyly of Toes:

Name: Macrodactyly of Toes 20 58
Macrodactyly of Foot 20 58
Megalodactylism of the Foot 20
Megalodactyly of the Foot 20
Macrodactyly of Toe 6

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q74.2
UMLS via Orphanet 71 C2931596
Orphanet 58 ORPHA295047

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 in the Macrodactyly family:

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 11.3
2 macrodactyly of toes, unilateral 11.3

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

Articles related to Macrodactyly of Toes:

# Title Authors PMID Year
1
Proteus syndrome: a case report. 61
11560226 2001

Variations for Macrodactyly of Toes

ClinVar genetic disease variations for Macrodactyly of Toes:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3CA NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) SNV Pathogenic 13653 rs121913279 GRCh37: 3:178952085-178952085
GRCh38: 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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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