Familial hypocalciuric hypercalcemia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL BENIGN HYPERCALCEMIA, TYPE III
HYPERCALCEMIA, FAMILIAL BENIGN, OKLAHOMA TYPE
HYPERCALCEMIA, FAMILIAL BENIGN, TYPE III
FBH3
HHC3
FHH type 3
Number of Symptoms 14
OrphanetNr: 101050
OMIM Id: 600740
ICD-10: E83.5
UMLs: C1833372
MeSH: C537147
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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 Rare [HPO:skoehler] 78 / 7739
3
 (HPO:0003529) Parathormone-independent increased renal tubular calcium reabsorption 2 / 7739
4
 (HPO:0008200) Primary hyperparathyroidism 5 / 7739
5
 (HPO:0000934) Chondrocalcinosis 13 / 7739
6
 (HPO:0004398) Peptic ulcer Rare [HPO:skoehler] 7 / 7739
7
 (HPO:0001733) Pancreatitis 46 / 7739
8
 (HPO:0003072) Hypercalcemia 36 / 7739
9
 (HPO:0002918) Hypermagnesemia 4 / 7739
10
 (HPO:0001012) Multiple lipomas 43 / 7739
11
 (OMIM) Nephrolithiasis uncommon 2 / 7739
12
 (OMIM) Peptic ulcer uncommon 2 / 7739
13
 (OMIM) Parathormone-independent renal tubular calcium reabsorption defect 2 / 7739
14
 (OMIM) Ratio of renal calcium clearance to creatinine clearance usually below 0.01 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McMurtry et al. (1992) provided clinical and metabolic characterization of familial hypocalciuric hypercalcemia in a kindred from Oklahoma. Nineteen affected members were found. Immunoreactive parathyroid hormone (iPTH) levels, determined in 3 separate immunoassays, became supranormal by about age ...
Molecular genetics OMIM Using exome capture and high-throughput sequence analysis of genomic DNA from an affected individual from each of 2 unrelated kindreds with HHC mapping to chromosome 19q13, originally described by McMurtry et al. (1992) and Nesbit et al. (2010), ...