MCID: PLY062
MIFTS: 11

Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy malady

Genetic diseases (common) category

Summaries for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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MalaCards based summary: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy is related to polyhydramnios, 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).

Description from OMIM:45 611087

Aliases & Classifications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

Name: Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 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
1polyhydramnios10.4

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 17)
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 midface prominence 16% HP:0012371
11 macrocephaly 15% HP:0000256
12 premature birth 15% HP:0001622
13 defect in the atrial septum 4% HP:0001631
14 nephrocalcinosis 2% HP:0000121
15 diabetes insipidus 2% HP:0000873
16 autosomal recessive inheritance HP:0000007
17 global developmental delay HP:0001263

Drugs & Therapeutics for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Drug clinical trials:

Search ClinicalTrials for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

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Publications for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Articles related to Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy:

idTitleAuthorsYear
1
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. (17522105)
2007

Variations for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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

6
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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Compounds for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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GO Terms for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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Products for genes affiliated with Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet