Hypocalciuric hypercalcemia, familial, type III

Preferred Label : Hypocalciuric hypercalcemia, familial, type III;

Symbol : HHC3;

CISMeF acronym : FBH3; HHC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypercalcemia, familial benign, type III; Familial benign hypercalcemia, type III; Hypercalcemia, familial benign, oklahoma type; FBH3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the adaptor-related protein complex 2, sigma-1 subunit gene (AP2S1, 602242.0001);

Laboratory abnormalities : Hypocalciuria; Hypercalcemia; Hypermagnesemia, mild; Hypophosphatemia, mild;

Prefixed ID : #600740;

Details

Origin ID

600740;

UMLS CUI

C1833372;

Automatic exact mappings (from CISMeF team)
- adaptor related protein complex 2 subunit sigma 1 [ORDO Gene]
Broader ORDO disease(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
Currated CISMeF NLP mapping
- Familial benign hypercalcemia, type 3 [MeSH concept]
- Familial hypocalciuric hypercalcemia type 3 [ORDO Disease]
- familial benign hypercalcemia, type 3 [MeSH Supplementary Concept]
- familial hypocalciuric hypercalcemia 3 [DO Concept]
DO Cross reference
- familial hypocalciuric hypercalcemia 3 [DO Concept]
Genes related to phenotype
- Adaptor-related protein complex 2, sigma-1 subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Chondrocalcinosis [HPO term]
- Depression [HPO term]
- Fatigue [HPO term]
- Headache [HPO term]
- Hypercalcemia [HPO term]
- Hypermagnesemia [HPO term]
- Hypocalciuria [HPO term]
- Hypophosphatemia [HPO term]
- Multiple lipomas [HPO term]
- Multiple small medullary renal cysts [HPO term]
- Muscle weakness [HPO term]
- Nephrolithiasis [HPO term]
- Osteomalacia [HPO term]
- Pancreatitis [HPO term]
- Parathormone-independent increased renal tubular calcium reabsorption [HPO term]
- Peptic ulcer [HPO term]
- Primary hyperparathyroidism [HPO term]
- Renal insufficiency [HPO term]
ORDO concept(s)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial benign hypercalcemia, type 3 [MeSH concept]
- Familial hypocalciuric hypercalcemia type 3 [ORDO Disease]
- familial benign hypercalcemia, type 3 [MeSH Supplementary Concept]
- familial hypocalciuric hypercalcemia 3 [DO Concept]
Validated automatic mappings to NTBT
- Familial hypocalciuric hypercalcemia [ORDO Disease]

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