MCID: PLY062
MIFTS: 30

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy malady

Categories: Genetic diseases, Rare diseases

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 52 12 68
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 48 27
 
Pretzel Syndrome 48
Pmse Syndrome 48

Characteristics:

HPO:

64
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 611087

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section
NIH Rare Diseases:48 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 nephrocalcinosis, wide mouth and thick lower 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 signaling pathway (KEGG) and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include uterus, kidney and heart, and related mouse phenotypes are Decreased human cytomegalovirus (HCMV) strain AD169 replication and Decreased substrate adherent cell growth.

Description from OMIM:52 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
1epilepsy10.2
2polyhydramnios10.2
3megalencephaly10.2
4neurological consequences of cytomegalovirus infection9.8STK11, STRADA
5cataract 79.8STK11, STRADA
6impetigo9.7STK11, STRADA

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



Diseases related to polyhydramnios, megalencephaly, and symptomatic epilepsy

Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section


Clinical features from OMIM:

611087

Human phenotypes related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

 64 (show all 17)
id Description HPO Frequency HPO Source Accession
1 nephrocalcinosis64 HP:0000121
2 wide mouth64 HP:0000154
3 thick lower lip vermilion64 HP:0000179
4 thick upper lip vermilion64 HP:0000215
5 macrocephaly64 HP:0000256
6 long face64 HP:0000276
7 hypertelorism64 HP:0000316
8 wide nasal bridge64 HP:0000431
9 diabetes insipidus64 HP:0000873
10 muscular hypotonia64 HP:0001252
11 global developmental delay64 HP:0001263
12 megalencephaly64 HP:0001355
13 polyhydramnios64 HP:0001561
14 premature birth64 HP:0001622
15 atrial septal defect64 HP:0001631
16 large forehead64 HP:0002003
17 hyperplasia of midface64 HP:0012371

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00248-A9.8STK11, STRADA
2GR00193-A-37.8STK11, STRADA, STK11, STRADA

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

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

id Genetic test Affiliating Genes
1 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy27

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

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

36
Uterus, Kidney, Heart, Brain

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section

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

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1STRADASTRADA, 7-KB DELdeletionPathogenic
2STRADANM_ 001003787.2(STRADA): c.842dupA (p.Asp281Glufs)duplicationPathogenicrs886037929GRCh37Chr 17, 61784011: 61784011

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

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

idNameGO IDScoreTop Affiliating Genes
1activation of protein kinase activityGO:00321479.9STK11, STRADA
2cell cycleGO:00070499.8STK11, STRADA
3cell cycle arrestGO:00070509.8STK11, STRADA
4positive regulation of protein serine/threonine kinase activityGO:00719029.8STK11, STRADA
5protein phosphorylationGO:00064689.1STK11, STRADA

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

idNameGO IDScoreTop Affiliating Genes
1protein kinase activator activityGO:00302959.8STK11, STRADA
2protein kinase activityGO:00046729.1STK11, STRADA

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet