MCID: PLY062
MIFTS: 36

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 57 37 29 13 6 40 73
Pmse Syndrome 57 53 59
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy Syndrome 53
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome 59
Pretzel Syndrome 53
Pmse 57

Characteristics:

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

NIH Rare Diseases : 53 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.

MalaCards based summary : Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy, also known as pmse syndrome, is related to polyhydramnios and megalencephaly. 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 macrocephaly and hypertelorism

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 29.2 STK11 STRADA
2 megalencephaly 28.8 STK11 STRADA
3 epilepsy 10.2

Symptoms & Phenotypes for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Abdomen Gastrointestinal:
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:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 very rare (1%) HP:0000256
2 hypertelorism 32 very rare (1%) HP:0000316
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 muscular hypotonia 32 very rare (1%) HP:0001252
6 megalencephaly 32 HP:0001355
7 global developmental delay 32 HP:0001263
8 wide nasal bridge 32 very rare (1%) HP:0000431
9 feeding difficulties 32 HP:0011968
10 thick lower lip vermilion 32 very rare (1%) HP:0000179
11 strabismus 32 HP:0000486
12 atrial septal defect 32 very rare (1%) HP:0001631
13 inability to walk 32 HP:0002540
14 ventriculomegaly 32 HP:0002119
15 wide mouth 32 very rare (1%) HP:0000154
16 diabetes insipidus 32 very rare (1%) HP:0000873
17 open mouth 32 HP:0000194
18 joint laxity 32 occasional (7.5%) HP:0001388
19 polyhydramnios 32 very rare (1%) HP:0001561
20 long face 32 very rare (1%) HP:0000276
21 nephrocalcinosis 32 very rare (1%) HP:0000121
22 large forehead 32 very rare (1%) HP:0002003
23 difficulty walking 32 HP:0002355
24 thick upper lip vermilion 32 very rare (1%) HP:0000215
25 astrocytosis 32 HP:0002446
26 premature birth 32 very rare (1%) HP:0001622
27 generalized hypotonia 32 HP:0001290
28 facial hypotonia 32 HP:0000297
29 hyperplasia of midface 32 very rare (1%) HP:0012371

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

26
# 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 29 STRADA

Anatomical Context for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

41
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
(show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 STRADA STRADA, 7-KB DEL deletion Pathogenic
2 STRADA NM_001003787.2(STRADA): c.135G> A (p.Ala45=) single nucleotide variant Conflicting interpretations of pathogenicity rs56163554 GRCh37 Chromosome 17, 61791457: 61791457
3 STRADA NM_001003787.2(STRADA): c.135G> A (p.Ala45=) single nucleotide variant Conflicting interpretations of pathogenicity rs56163554 GRCh38 Chromosome 17, 63714097: 63714097
4 STRADA NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs) duplication Pathogenic rs886037929 GRCh37 Chromosome 17, 61784011: 61784011
5 STRADA NM_001003787.2(STRADA): c.842dupA (p.Asp281Glufs) duplication Pathogenic rs886037929 GRCh38 Chromosome 17, 63706651: 63706651
6 STRADA NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg) single nucleotide variant Uncertain significance rs1045863605 GRCh38 Chromosome 17, 63710817: 63710817
7 STRADA NM_001003787.2(STRADA): c.368A> G (p.Lys123Arg) single nucleotide variant Uncertain significance rs1045863605 GRCh37 Chromosome 17, 61788177: 61788177
8 STRADA NM_001003787.2(STRADA): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 61781854: 61781854
9 STRADA NM_001003787.2(STRADA): c.947G> A (p.Arg316His) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 63704494: 63704494
10 STRADA NM_001003787.2(STRADA): c.744C> T (p.Val248=) single nucleotide variant Likely benign GRCh37 Chromosome 17, 61784616: 61784616
11 STRADA NM_001003787.2(STRADA): c.744C> T (p.Val248=) single nucleotide variant Likely benign GRCh38 Chromosome 17, 63707256: 63707256
12 STRADA NM_001003787.2(STRADA): c.296T> C (p.Val99Ala) single nucleotide variant Uncertain significance rs555623031 GRCh37 Chromosome 17, 61790818: 61790818
13 STRADA NM_001003787.2(STRADA): c.296T> C (p.Val99Ala) single nucleotide variant Uncertain significance rs555623031 GRCh38 Chromosome 17, 63713458: 63713458
14 STRADA NM_001003787.2(STRADA): c.582-6C> T single nucleotide variant Likely benign rs369276577 GRCh38 Chromosome 17, 63707424: 63707424
15 STRADA NM_001003787.2(STRADA): c.582-6C> T single nucleotide variant Likely benign rs369276577 GRCh37 Chromosome 17, 61784784: 61784784
16 STRADA NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys) single nucleotide variant Uncertain significance rs372229032 GRCh38 Chromosome 17, 63704519: 63704519
17 STRADA NM_001003787.2(STRADA): c.922G> A (p.Glu308Lys) single nucleotide variant Uncertain significance rs372229032 GRCh37 Chromosome 17, 61781879: 61781879
18 STRADA NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser) single nucleotide variant Uncertain significance rs201773578 GRCh38 Chromosome 17, 63707264: 63707264
19 STRADA NM_001003787.2(STRADA): c.736C> T (p.Pro246Ser) single nucleotide variant Uncertain significance rs201773578 GRCh37 Chromosome 17, 61784624: 61784624
20 STRADA NM_001003787.2(STRADA): c.581+4C> T single nucleotide variant Uncertain significance rs764367131 GRCh37 Chromosome 17, 61787847: 61787847
21 STRADA NM_001003787.2(STRADA): c.581+4C> T single nucleotide variant Uncertain significance rs764367131 GRCh38 Chromosome 17, 63710487: 63710487
22 STRADA NM_001003787.2(STRADA): c.508C> G (p.Leu170Val) single nucleotide variant Benign rs61734984 GRCh37 Chromosome 17, 61787924: 61787924
23 STRADA NM_001003787.2(STRADA): c.508C> G (p.Leu170Val) single nucleotide variant Benign rs61734984 GRCh38 Chromosome 17, 63710564: 63710564
24 STRADA NM_153335.5(STRADA): c.-18C> T single nucleotide variant Benign rs4968597 GRCh37 Chromosome 17, 61805747: 61805747
25 STRADA NM_153335.5(STRADA): c.-18C> T single nucleotide variant Benign rs4968597 GRCh38 Chromosome 17, 63728387: 63728387
26 STRADA NC_000017.11: g.(?_63726618)_(63728389_?)dup duplication Uncertain significance GRCh37 Chromosome 17, 61803978: 61805749
27 STRADA NC_000017.11: g.(?_63726618)_(63728389_?)dup duplication Uncertain significance GRCh38 Chromosome 17, 63726618: 63728389
28 STRADA NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser) single nucleotide variant Uncertain significance rs377651050 GRCh37 Chromosome 17, 61805698: 61805698
29 STRADA NM_001003787.2(STRADA): c.32T> G (p.Ile11Ser) single nucleotide variant Uncertain significance rs377651050 GRCh38 Chromosome 17, 63728338: 63728338
30 STRADA NM_001003787.2(STRADA): c.1184G> A (p.Arg395His) single nucleotide variant Uncertain significance rs150880597 GRCh37 Chromosome 17, 61781071: 61781071
31 STRADA NM_001003787.2(STRADA): c.1184G> A (p.Arg395His) single nucleotide variant Uncertain significance rs150880597 GRCh38 Chromosome 17, 63703711: 63703711
32 STRADA NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile) single nucleotide variant Uncertain significance rs539671529 GRCh37 Chromosome 17, 61781809: 61781809
33 STRADA NM_001003787.2(STRADA): c.992C> T (p.Thr331Ile) single nucleotide variant Uncertain significance rs539671529 GRCh38 Chromosome 17, 63704449: 63704449
34 STRADA NM_001003787.2(STRADA): c.1154G> A (p.Arg385His) single nucleotide variant Uncertain significance rs751571199 GRCh38 Chromosome 17, 63703741: 63703741
35 STRADA NM_001003787.2(STRADA): c.1154G> A (p.Arg385His) single nucleotide variant Uncertain significance rs751571199 GRCh37 Chromosome 17, 61781101: 61781101
36 STRADA NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter) single nucleotide variant Pathogenic rs748855607 GRCh38 Chromosome 17, 63704405: 63704405
37 STRADA NM_001003787.2(STRADA): c.1036C> T (p.Arg346Ter) single nucleotide variant Pathogenic rs748855607 GRCh37 Chromosome 17, 61781765: 61781765
38 STRADA NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg) single nucleotide variant Uncertain significance rs745739301 GRCh38 Chromosome 17, 63707381: 63707381
39 STRADA NM_001003787.2(STRADA): c.619G> C (p.Gly207Arg) single nucleotide variant Uncertain significance rs745739301 GRCh37 Chromosome 17, 61784741: 61784741
40 STRADA NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile) single nucleotide variant Likely benign rs61734987 GRCh38 Chromosome 17, 63710590: 63710590
41 STRADA NM_001003787.2(STRADA): c.482C> T (p.Thr161Ile) single nucleotide variant Likely benign rs61734987 GRCh37 Chromosome 17, 61787950: 61787950
42 STRADA NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp) single nucleotide variant Uncertain significance rs35808156 GRCh38 Chromosome 17, 63726695: 63726695
43 STRADA NM_001003787.2(STRADA): c.37C> T (p.Arg13Trp) single nucleotide variant Uncertain significance rs35808156 GRCh37 Chromosome 17, 61804055: 61804055
44 STRADA NM_001003787.2(STRADA): c.535G> T (p.Val179Leu) single nucleotide variant Uncertain significance rs777475313 GRCh38 Chromosome 17, 63710537: 63710537
45 STRADA NM_001003787.2(STRADA): c.535G> T (p.Val179Leu) single nucleotide variant Uncertain significance rs777475313 GRCh37 Chromosome 17, 61787897: 61787897
46 STRADA NM_001003787.2(STRADA): c.390C> T (p.Ile130=) single nucleotide variant Likely benign rs764868771 GRCh38 Chromosome 17, 63710795: 63710795
47 STRADA NM_001003787.2(STRADA): c.390C> T (p.Ile130=) single nucleotide variant Likely benign rs764868771 GRCh37 Chromosome 17, 61788155: 61788155
48 STRADA NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu) single nucleotide variant Likely benign rs143559168 GRCh37 Chromosome 17, 61800677: 61800677
49 STRADA NM_001003787.2(STRADA): c.104C> T (p.Pro35Leu) single nucleotide variant Likely benign rs143559168 GRCh38 Chromosome 17, 63723317: 63723317
50 STRADA NM_001003787.2(STRADA): c.95-9C> T single nucleotide variant Likely benign rs751729626 GRCh38 Chromosome 17, 63723335: 63723335

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:

37
# 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 9.16 STK11 STRADA
2 protein serine/threonine kinase activity GO:0004674 8.96 STK11 STRADA
3 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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