MCID: ISL034
MIFTS: 7

Isolated Megalencephaly

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Isolated Megalencephaly

MalaCards integrated aliases for Isolated Megalencephaly:

Name: Isolated Megalencephaly 58
Isolated Macrencephaly 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q04.5
UMLS via Orphanet 71 C0221355
Orphanet 58 ORPHA268920

Summaries for Isolated Megalencephaly

MalaCards based summary : Isolated Megalencephaly, is also known as isolated macrencephaly. An important gene associated with Isolated Megalencephaly is TBC1D7 (TBC1 Domain Family Member 7). Affiliated tissues include brain.

Related Diseases for Isolated Megalencephaly

Symptoms & Phenotypes for Isolated Megalencephaly

Drugs & Therapeutics for Isolated Megalencephaly

Search Clinical Trials , NIH Clinical Center for Isolated Megalencephaly

Genetic Tests for Isolated Megalencephaly

Anatomical Context for Isolated Megalencephaly

MalaCards organs/tissues related to Isolated Megalencephaly:

40
Brain

Publications for Isolated Megalencephaly

Articles related to Isolated Megalencephaly:

# Title Authors PMID Year
1
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. 61
31568861 2020

Variations for Isolated Megalencephaly

Expression for Isolated Megalencephaly

Search GEO for disease gene expression data for Isolated Megalencephaly.

Pathways for Isolated Megalencephaly

GO Terms for Isolated Megalencephaly

Sources for Isolated Megalencephaly

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
Content
Loading form....