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Browse result for Familial hypocalciuric hypercalcemia
※ introduction Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day.
Reference
Wiki: Familial hypocalciuric hypercalcemia
Reference
Wiki: Familial hypocalciuric hypercalcemia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00999 | P29992 | 2767 | GNA11 | Guanine nucleotide-binding protein subunit alpha-11 subunit alpha) | Homo sapiens |
| PTMD05051 | P41180 | 846 | CASR | Extracellular calcium-sensing receptor | Homo sapiens |
| PTMD05556 | P53680 | 1175 | AP2S1 | AP-2 complex subunit sigma | Homo sapiens |
