Hypocalciuric hypercalcemia, familial, type II

Preferred Label : Hypocalciuric hypercalcemia, familial, type II;

Symbol : HHC2;

CISMeF acronym : FBH2; HHC2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FBH2; Hypercalcemia, familial benign, type II; Familial benign hypercalcemia, type II;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HCC1 (145980).;

Inheritance : Autosomal dominant with locus heterogeneity (19p13.3);

Prefixed ID : #145981;

Details

Origin ID

145981;

UMLS CUI

C1840347;

Automatic exact mappings (from CISMeF team)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia type 2 [ORDO Disease]
- G protein subunit alpha 11 [ORDO Gene]
- GNA11 wt Allele [NCIt concept]
- Hypocalciuric hypercalcemia, familial, type 2 [MeSH concept]
- familial hypocalciuric hypercalcemia 2 [DO Concept]
- hypocalciuric hypercalcemia, familial, type 2 [MeSH Supplementary Concept]
- symbol withdrawn HHC2 [HGNC gene]
Broader ORDO disease(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
DO Cross reference
- familial hypocalciuric hypercalcemia 2 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chondrocalcinosis [HPO term]
- Hypercalcemia [HPO term]
- Hypermagnesemia [HPO term]
- Hypocalciuria [HPO term]
- Multiple lipomas [HPO term]
- Nephrolithiasis [HPO term]
- Pancreatitis [HPO term]
- Parathormone-independent increased renal tubular calcium reabsorption [HPO term]
- Peptic ulcer [HPO term]
- Primary hyperparathyroidism [HPO term]
ORDO concept(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial hypocalciuric hypercalcemia type 2 [ORDO Disease]
- Hypocalciuric hypercalcemia, familial, type 2 [MeSH concept]
- hypocalciuric hypercalcemia, familial, type 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients