Polyhydramnios, megalencephaly, and symptomatic epilepsy

Preferred Label : Polyhydramnios, megalencephaly, and symptomatic epilepsy;

Symbol : PMSE;

CISMeF acronym : PMSE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pmse syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STE20-related kinase adaptor alpha gene (STRADA, 608626.0001);

Prefixed ID : #611087;

Détails

Origin ID

611087;

UMLS CUI

C1970203;

Currated CISMeF NLP mapping
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) [SNOMED CT concept]
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome [ORDO Disease]
- polyhydramnios, megalencephaly, and symptomatic epilepsy [MeSH concept]
- polyhydramnios, megalencephaly, and symptomatic epilepsy [MeSH Supplementary Concept]
Genes related to phenotype
- Ste20-related kinase adaptor alpha [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Astrocytosis [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diabetes insipidus [HPO term]
- Difficulty walking [HPO term]
- Facial hypotonia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperplasia of midface [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Large forehead [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Nephrocalcinosis [HPO term]
- Open mouth [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Seizure [HPO term]
- Slender build [HPO term]
- Strabismus [HPO term]
- Thick lower lip vermilion [HPO term]
- Thick upper lip vermilion [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) [SNOMED CT concept]
- polyhydramnios, megalencephaly, and symptomatic epilepsy [MeSH Supplementary Concept]
- polyhydramnios, megalencephaly, and symptomatic epilepsy [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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