MCID: PLY062
MIFTS: 27

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 49 11 65
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 45 24
 
Pretzel Syndrome 45
Pmse Syndrome 45

Characteristics:

HPO:

61
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 611087
UMLS65 C1970203

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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NIH Rare Diseases:45 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 portal hypertension and meningitis and encephalitis, 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 Wnt Signaling Pathways: beta-Catenin-independent Wnt/PCP Signaling Pathways and Translation Insulin regulation of translation. Affiliated tissues include brain, heart and kidney.

Description from OMIM:49 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
1portal hypertension10.4
2meningitis and encephalitis9.7STK11, STRADA
3oligodontia-colorectal cancer syndrome9.6STK11, STRADA
4rheumatoid lung disease9.5STK11, STRADA

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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Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

33
Brain, Heart, Kidney, Uterus

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

idTitleAuthorsYear
1
The effects of SNAP/SNARE complexes on the ATPase of NSF. (9762911)
1998

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:00719029.1STK11, STRADA

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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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