autosomal dominant hypocalcemia 1
Findings
No curated finding names autosomal dominant hypocalcemia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.
Definition from the Mondo Disease Ontology (MONDO:0011013), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypocalcemiaHPOHP:0002901
- 41 of 41 reported patients
- Muscle spasmHPOHP:0003394
- 7 of 7 reported patients
- HypomagnesemiaHPOHP:0002917
- 16 of 20 reported patients
- HyperphosphatemiaHPOHP:0002905
- 5 of 7 reported patients
- HypercalciuriaHPOHP:0002150
- 9 of 20 reported patients
- NephrocalcinosisHPOHP:0000121
- 12 of 27 reported patients
- ParesthesiaHPOHP:0003401
Show the remaining 2
- Decreased glomerular filtration rateHPOHP:0012213
- 2 of 20 reported patients
- TetanyHPOHP:0001281
- 1 of 14 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CASRHGNC:1514
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2018
- Definitive · Natera · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: autosomal dominant hypocalcemia 1
- Also called
- autosomal dominant hypocalcemia caused by mutation in CASRautosomal dominant hypocalcemia type 1CASR autosomal dominant hypocalcemiaHYPOC1hypocalcemia, autosomal dominant type 1hypocalcemia, autosomal dominant, with Bartter syndrome