Previous symbols: HHC, HHC1. Aliases: FHH, NSHPT, GPRC2A.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Dominant Hypocalcemia 1 | causative gain of function |
mechanism: Activating CASR Variant
|
| Familial Hypocalciuric Hypercalcemia 1 | causative loss of function |
mechanism: Heterozygous CASR Loss-of-Function Variant
|
| CKD-Mineral Bone Disorder |
untyped
Modifier
|
mechanism: Secondary Hyperparathyroidism
computational model: Peterson-Riggs CKD-MBD Multiscale Extension
|
| Parathyroid Hyperplasia |
untyped
Differential Diagnosis
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| epilepsy MONDO:0005027 | AD | Refuted 2025-11-18 |
Epilepsy
not named
|
| familial hypocalciuric hypercalcemia 1 MONDO:0007791 | AD | Definitive 2023-07-20 |
Familial Hypocalciuric Hypercalcemia 1
causative
|
| neonatal severe primary hyperparathyroidism MONDO:0009397 | AR | Definitive 2023-07-20 |
no dismech entry |
| autosomal dominant hypocalcemia 1 MONDO:0011013 | AD | Definitive 2023-07-20 |
Autosomal Dominant Hypocalcemia 1
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.