MCID: PLY062
MIFTS: 31

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 50 12 66
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 46 25
 
Pretzel Syndrome 46
Pmse Syndrome 46

Characteristics:

HPO:

62
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 611087

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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NIH Rare Diseases:46 Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (pmse syndrome) is characterized by excessive accumulation of amniotic fluid that surrounds the baby in the uterus during pregnancy (polyhydramnios), abnormally large, heavy, and usually malfunctioning brain (megalencephaly), seizures and intellectual disability. some patients also have heart problems, diabetes insipidus, kidney problems and leukemia. it is caused by a mutation in the lyk5 gene.  seizures are difficult to treat and there is ongoing research for more effective medication. last updated: 2/3/2016

MalaCards based summary: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy, also known as polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, is related to epilepsy and polyhydramnios, 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. Affiliated tissues include uterus, kidney and heart.

Description from OMIM:50 611087

Related Diseases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

idRelated DiseaseScoreTop Affiliating Genes
1epilepsy10.3
2polyhydramnios10.3
3megalencephaly10.3
4mucopolysaccharidoses9.5STK11, STRADA
5cataract 79.4STK11, STRADA
6hereditary night blindness9.2STK11, 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

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Clinical features from OMIM:

611087

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

(show all 16)
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 global developmental delay HP:0001263

Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Interventional clinical trials:

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

Genetic Tests for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Genetic tests related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

id Genetic test Affiliating Genes
1 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy25

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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MalaCards organs/tissues related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

34
Uterus, Kidney, Heart, Brain

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

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Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

idTitleAuthorsYear
1
Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). (27170158)
2016
2
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. (17522105)
2007

Variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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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

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

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

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1STK11, STRADA
2
Show member pathways
9.1STK11, STRADA
3
Show member pathways
9.1STK11, STRADA
49.1STK11, STRADA
5
Show member pathways
9.1STK11, STRADA
6
Show member pathways
9.1STK11, STRADA
79.1STK11, STRADA

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

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein serine/threonine kinase activityGO:00719029.4STK11, STRADA
2cell cycle arrestGO:00070509.1STK11, STRADA
3activation of protein kinase activityGO:00321479.1STK11, STRADA
4protein 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:00302959.1STK11, STRADA

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet