/autosomal dominant hypocalcemia 1

autosomal dominant hypocalcemia 1

Rare Disease

MONDO:0011013

Also Known As

hypocalcemia, autosomal dominantCASR autosomal dominant hypocalcemiaHYPOC1autosomal dominant hypocalcemia caused by mutation in CASRautosomal dominant hypocalcemia type 1hypocalcemia, autosomal dominant type 1hypocalcemia, autosomal dominant, with Bartter syndromehypercalciuric hypocalcemiahypocalcemia, autosomal dominant 1hypocalcemia, autosomal dominant 1, with Bartter syndromehypocalcemia, familial

Definition

Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.

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Associated Genes

CASR ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:601198 ↗

Related Diseases

autosomal dominant hypocalcemia 2

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