MCID: PLY062
MIFTS: 36

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

MalaCards integrated aliases for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 53 36 28 13 69
Pmse Syndrome 53 49 55
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 49
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome 55
Pretzel Syndrome 49
Pmse 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
death in childhood may occur
onset of seizures in first months of life
developmental stagnation after seizure onset
increased frequency among the amish


HPO:

31
polyhydramnios, megalencephaly, and symptomatic epilepsy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

NIH Rare Diseases : 49 Polyhydramnios, megalencephaly, and symptomatic epilepsysyndrome (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 pmse syndrome, is related to polyhydramnios and megalencephaly, and has symptoms including seizures, joint laxity and macrocephaly. 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 and mTOR signaling pathway (KEGG). Affiliated tissues include brain, kidney and heart, and related phenotypes are Decreased substrate adherent cell growth and 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:

# Related Disease Score Top Affiliating Genes
1 polyhydramnios 29.6 STK11 STRADA
2 megalencephaly 29.4 STK11 STRADA
3 macrocephaly/megalencephaly syndrome, autosomal recessive 10.2
4 epilepsy 10.2

Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly

Abdomen Gastroin testinal:
feeding difficulties

Head And Neck Mouth:
open mouth
thick lips
enlarged mouth

Head And Neck Face:
long face
large forehead
overgrowth of the mandible
hypotonic facies

Muscle Soft Tissue:
hypotonia
skeletal muscle hypoplasia

Genitourinary Kidneys:
nephrocalcinosis (in some patients)

Skeletal:
joint laxity (1 patient)

Head And Neck Eyes:
hypertelorism
strabismus
peaked eyebrows

Neurologic Central Nervous System:
inability to walk
ventriculomegaly
difficulty walking
astrocytosis
mental retardation
more
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Nose:
broad nasal bridge

Growth Weight:
thin body habitus

Cardiovascular Heart:
atrial septal defects (in some patients)

Endocrine Features:
diabetes insipidus (in some patients)


Clinical features from OMIM:

611087

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

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 joint laxity 31 occasional (7.5%) HP:0001388
3 macrocephaly 31 very rare (1%) HP:0000256
4 hypertelorism 31 very rare (1%) HP:0000316
5 intellectual disability 31 HP:0001249
6 megalencephaly 31 HP:0001355
7 global developmental delay 31 HP:0001263
8 wide nasal bridge 31 very rare (1%) HP:0000431
9 feeding difficulties 31 HP:0011968
10 thick lower lip vermilion 31 very rare (1%) HP:0000179
11 strabismus 31 HP:0000486
12 atrial septal defect 31 very rare (1%) HP:0001631
13 inability to walk 31 HP:0002540
14 ventriculomegaly 31 HP:0002119
15 wide mouth 31 very rare (1%) HP:0000154
16 diabetes insipidus 31 very rare (1%) HP:0000873
17 open mouth 31 HP:0000194
18 polyhydramnios 31 very rare (1%) HP:0001561
19 long face 31 very rare (1%) HP:0000276
20 nephrocalcinosis 31 very rare (1%) HP:0000121
21 large forehead 31 very rare (1%) HP:0002003
22 difficulty walking 31 HP:0002355
23 thick upper lip vermilion 31 very rare (1%) HP:0000215
24 astrocytosis 31 HP:0002446
25 premature birth 31 very rare (1%) HP:0001622
26 generalized hypotonia 31 HP:0001290
27 facial hypotonia 31 HP:0000297
28 hyperplasia of midface 31 very rare (1%) HP:0012371

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

25
# 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:

# Genetic test Affiliating Genes
1 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 28 STRADA

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

38
Brain, Kidney, Heart, Uterus, Skeletal Muscle

Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

# 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
# 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 KEGG:

36
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.78 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:

# 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:

# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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