MCID: PLY062
MIFTS: 30

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 54 13 69
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 50 29
Pretzel Syndrome 50
Pmse Syndrome 50

Characteristics:

HPO:

32
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 611087

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

NIH Rare Diseases : 50 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 macrocephaly, hypertelorism and muscular hypotonia. An important gene associated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is STRADA (STE20-Related Kinase Adaptor Alpha), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include heart, kidney and brain, and related phenotype is Decreased substrate adherent cell growth.

Description from OMIM: 611087

Related Diseases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

id Related Disease Score Top Affiliating Genes
1 epilepsy 10.2
2 polyhydramnios 10.2
3 megalencephaly 10.2
4 neurological consequences of cytomegalovirus infection 9.8 STK11 STRADA
5 cataract 7 9.8 STK11 STRADA
6 impetigo 9.7 STK11 STRADA

Graphical network of the top 20 diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:



Diseases related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Clinical features from OMIM:

611087

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 muscular hypotonia 32 HP:0001252
4 megalencephaly 32 HP:0001355
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 thick lower lip vermilion 32 HP:0000179
8 wide mouth 32 HP:0000154
9 diabetes insipidus 32 HP:0000873
10 polyhydramnios 32 HP:0001561
11 long face 32 HP:0000276
12 nephrocalcinosis 32 HP:0000121
13 large forehead 32 HP:0002003
14 premature birth 32 HP:0001622
15 thick upper lip vermilion 32 HP:0000215
16 atrial septal defect 32 HP:0001631
17 hyperplasia of midface 32 HP:0012371

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.23 STK11 STRADA
2 Decreased substrate adherent cell growth GR00193-A-3 9.23 STK11 STRADA
3 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 8.96 STK11 STRADA

Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Genetic Tests for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

id Genetic test Affiliating Genes
1 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 29

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

39
Heart, Kidney, Brain, Uterus

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

id Title Authors Year
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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STRADA STRADA, 7-KB DEL deletion Pathogenic
2 STRADA NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs) duplication Pathogenic rs886037929 GRCh37 Chromosome 17, 61784011: 61784011

Expression for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Pathways for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 STK11 STRADA
2
Show member pathways
11.67 STK11 STRADA
3
Show member pathways
11.56 STK11 STRADA
4
Show member pathways
11.19 STK11 STRADA
5 10.25 STK11 STRADA

GO Terms for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

id Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.32 STK11 STRADA
2 protein phosphorylation GO:0006468 9.26 STK11 STRADA
3 cell cycle arrest GO:0007050 9.16 STK11 STRADA
4 activation of protein kinase activity GO:0032147 8.96 STK11 STRADA
5 positive regulation of protein serine/threonine kinase activity GO:0071902 8.62 STK11 STRADA

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

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 8.96 STK11 STRADA
2 protein kinase activator activity GO:0030295 8.62 STK11 STRADA

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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11 DGIdb
16 ExPASy
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34 ICD10 via Orphanet
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70 UMLS via Orphanet
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