Details of Disease | DrugMAP

General Information of Disease (ID: DIS97M1E)

Disease Name	Isolated autosomal dominant hypomagnesemia, Glaudemans type
Definition	Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Disease Hierarchy	DISNS4MA: Familial primary hypomagnesemia with normocalcuria DIS97M1E: Isolated autosomal dominant hypomagnesemia, Glaudemans type
Disease Identifiers	MONDO ID MONDO_0016048 UMLS CUI C4305155 MedGen ID 930824 Orphanet ID 199326 SNOMED CT ID 722008003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNA1	TTS3DIK	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNA1	OTP3CCEH	Supportive	Autosomal dominant	[1]
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References

1	A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest. 2009 Apr;119(4):936-42. doi: 10.1172/JCI36948. Epub 2009 Mar 23.