Familial hypocalciuric hypercalcemia type 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERCALCEMIA, FAMILIAL BENIGN HYPOCALCIURIC HYPERCALCEMIA, ACQUIRED, INCLUDED
FAMILIAL BENIGN HYPERCALCEMIA 1
FBH1
HHC1
FHH1
FHH type 1
Number of Symptoms 7
OrphanetNr: 93372
OMIM Id: 145980
ICD-10: E83.5
UMLs: C0342637
C1809471
MeSH: C537145
MedDRA: 10068704
Snomed: 190868007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial hypocalciuric hypercalcemia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare respiratory disease

Symptom Information: Sort by abundance 

1
(HPO:0003127) Hypocalciuria 7 / 7739
2
(HPO:0000787) Nephrolithiasis 78 / 7739
3
(HPO:0001733) Pancreatitis 46 / 7739
4
(HPO:0003072) Hypercalcemia 36 / 7739
5
(HPO:0002918) Hypermagnesemia 4 / 7739
6
(OMIM) Urinary calcium-creatinine ratio < 0.01:1 supports diagnosis 1 / 7739
7
(OMIM) Normal concentration of parathyroid hormone 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is ...
Clinical Description OMIM From studies of the families of 25 index patients with primary parathyroid hyperplasia, Marx et al. (1977) identified 2 autosomal dominant disorders: type I multiple endocrine neoplasia (MEN1; 131100) and one that they termed familial hypocalciuric hypercalcemia. The ...
Molecular genetics OMIM Parathyroid cells respond to decreases in extracellular calcium concentration by means of the calcium-sensing receptor (601199), a cell surface receptor that alters phosphatidylinositol turnover and intracellular calcium, ultimately effecting an increase in PTH secretion. The 'set point' of ...