Hypomagnesemia, seizures, and impaired intellectual development 2

Preferred Label : Hypomagnesemia, seizures, and impaired intellectual development 2;

Symbol : HOMGSMR2;

CISMeF acronym : HOMGSMR2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Na /K transporting ATPase, alpha-1 polypeptide gene (ATP1A1, 182310.0006);

Laboratory abnormalities : Hypomagnesemia; Hypokalemia, intermittent;

Prefixed ID : #618314;

Details

Origin ID

618314;

UMLS CUI

C5193023;

Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-1 polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hypokalemia [HPO term]
- Hypomagnesemia [HPO term]
- Polyuria [HPO term]
- Renal magnesium wasting [HPO term]
- Renal potassium wasting [HPO term]
- Self-biting [HPO term]
- Status epilepticus [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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