Details of Disease | DrugMAP

General Information of Disease (ID: DISSOX8L)

Disease Name	Autosomal dominant hypocalcemia 1
Synonyms	hypocalcemia, autosomal dominant 1; hypercalciuric hypocalcemia; hypocalcemia, autosomal dominant 1, with Bartter syndrome; hypocalcemia, familial; hypocalcemia, autosomal dominant; autosomal dominant hypocalcemia type 1; HYPOC1; hypocalcemia, autosomal dominant, with Bartter syndrome; CASR autosomal dominant hypocalcemia; autosomal dominant hypocalcemia caused by mutation in CASR; hypocalcemia, autosomal dominant type 1
Definition	Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.
Disease Hierarchy	DISTCK2W: Hypocalcemia DISSOX8L: Autosomal dominant hypocalcemia 1
Disease Identifiers	MONDO ID MONDO_0011013 MESH ID C562783 UMLS CUI C0342345 MedGen ID 87438

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
CASR	TTBUYHA	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASR	OT2PEJDO	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.