MCID: PLY062
MIFTS: 19

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy malady

Genetic diseases (common) category

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Aliases & Descriptions for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 49 11


Classifications:



External Ids:

OMIM49 611087

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section
MalaCards based summary: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is related to polyhydramnios and megalencephaly, and has symptoms including wide mouth, thick lower lip vermilion and thick upper lip vermilion. An important gene associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is STRADA (STE20-Related Kinase Adaptor Alpha), and among its related pathways are mTOR signalling and Translation Insulin regulation of translation.

Description from OMIM:49 611087

Related Diseases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1polyhydramnios10.4
2megalencephaly10.4
3meningitis and encephalitis9.8STK11, STRADA
4oligodontia-colorectal cancer syndrome9.8STK11, STRADA
5benign dermal neurilemmoma9.7STK11, STRADA

Graphical network of diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:



Diseases related to polyhydramnios, megalencephaly, and symptomatic epilepsy

Symptoms for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section


Clinical features from OMIM:

611087

HPO human phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

(show all 17)
id Description Frequency HPO Source Accession
1 wide mouth 16% HP:0000154
2 thick lower lip vermilion 16% HP:0000179
3 thick upper lip vermilion 16% HP:0000215
4 long face 16% HP:0000276
5 hypertelorism 16% HP:0000316
6 wide nasal bridge 16% HP:0000431
7 muscular hypotonia 16% HP:0001252
8 polyhydramnios 16% HP:0001561
9 large forehead 16% HP:0002003
10 hyperplasia of midface 16% HP:0012371
11 macrocephaly 15% HP:0000256
12 premature birth 15% HP:0001622
13 atria septal defect 4% HP:0001631
14 nephrocalcinosis 2% HP:0000121
15 diabetes insipidus 2% HP:0000873
16 autosomal recessive inheritance HP:0000007
17 global developmental delay HP:0001263

Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Genetic Tests for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Animal Models for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy or affiliated genes

About this section

MGI Mouse Phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

idTitleAuthorsYear
1
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. (17522105)
2007

Variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Clinvar genetic disease variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1STRADALYK5, 7-KB DELdeletionPathogenic

Expression for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section
Search GEO for disease gene expression data for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy.

Pathways for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

GO Terms for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

Cellular components related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:00432349.1STK11, STRADA

Biological processes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1activation of protein kinase activityGO:00321479.5STK11, STRADA
2protein heterooligomerizationGO:00512919.5STK11, STRADA
3cell cycle arrestGO:00070509.2STK11, STRADA
4insulin receptor signaling pathwayGO:00082869.1STK11, STRADA
5protein phosphorylationGO:00064688.8STK11, STRADA

Molecular functions related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:00302959.5STK11, STRADA
2protein serine/threonine kinase activityGO:00046749.1STK11, STRADA
3protein kinase activityGO:00046728.8STK11, STRADA

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet