Familial hypocalciuric hypercalcemia type 2

General Information (adopted from Orphanet):

Synonyms, Signs: FAMILIAL BENIGN HYPERCALCEMIA, TYPE II
HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II
FBH2
HHC2
FHH type 2
Number of Symptoms 16
OrphanetNr: 101049
OMIM Id: 145981
ICD-10: E83.5
UMLs: C2931427
MeSH: C537146
MedDRA:
Snomed:

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:0000787) Nephrolithiasis Rare [HPO:skoehler] 78 / 7739
2
 (HPO:0003529) Parathormone-independent increased renal tubular calcium reabsorption 2 / 7739
3
 (HPO:0003127) Hypocalciuria 7 / 7739
4
 (HPO:0008200) Primary hyperparathyroidism 5 / 7739
5
 (HPO:0000934) Chondrocalcinosis 13 / 7739
6
 (HPO:0001733) Pancreatitis 46 / 7739
7
 (HPO:0004398) Peptic ulcer Rare [HPO:skoehler] 7 / 7739
8
 (HPO:0002918) Hypermagnesemia 4 / 7739
9
 (HPO:0003072) Hypercalcemia 36 / 7739
10
 (HPO:0001012) Multiple lipomas 43 / 7739
11
 (OMIM) Parathormone-independent renal tubular calcium reabsorption defect 2 / 7739
12
 (OMIM) Defective G protein receptor 1 / 7739
13
 (OMIM) Peptic ulcer uncommon 2 / 7739
14
 (OMIM) Ca(2+)-sensing receptor defect (e.g. Hypocalciuric hypercalcemia, familial .0001) 1 / 7739
15
 (OMIM) Ratio of renal calcium clearance to creatinine clearance usually below 0.01 2 / 7739
16
 (OMIM) Nephrolithiasis uncommon 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In the proband from a 4-generation kindred with hypocalciuric hypercalcemia, previously studied by Heath et al. (1992) (kindred 11675), and 9 unrelated patients with familial HHC who were known to be negative for mutations in the HHC-associated genes ...