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familial hypocalciuric hypercalcemia

MONDO:0018458Mondo

Findings

No curated finding names familial hypocalciuric hypercalcemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration.

Definition from the Mondo Disease Ontology (MONDO:0018458), read 2026-09-29. CC BY 4.0.

Features

20 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

HypercalcemiaHPOHP:0003072
- Obligate (100% of cases)
- Frequent (30% to 79% of cases)
HypocalciuriaHPOHP:0003127
- Obligate (100% of cases)
Parathormone-independent increased renal tubular calcium reabsorptionHPOHP:0003529
- Very frequent (80% to 99% of cases)
Reduced ratio of renal calcium clearance to creatinine clearanceHPOHP:0003513
- Very frequent (80% to 99% of cases)
OsteomalaciaHPOHP:0002749
- Frequent (30% to 79% of cases)
Renal hypophosphatemiaHPOHP:0008732
- Frequent (30% to 79% of cases)
ChondrocalcinosisHPOHP:0000934
- Occasional (5% to 29% of cases)
Episodic abdominal painHPOHP:0002574
- Occasional (5% to 29% of cases)
FatigueHPOHP:0012378
- Occasional (5% to 29% of cases)
HeadacheHPOHP:0002315
- Occasional (5% to 29% of cases)
HypermagnesemiaHPOHP:0002918
- Occasional (5% to 29% of cases)
HypomagnesiuriaHPOHP:0012609
- Occasional (5% to 29% of cases)

Reported absent (1)

NephrocalcinosisHPOHP:0000121

Show the remaining 8

Nausea and vomitingHPOHP:0002017
- Occasional (5% to 29% of cases)
Peptic ulcerHPOHP:0004398
- Occasional (5% to 29% of cases)
AutoimmunityHPOHP:0002960
- Very rare (1% to 4% of cases)
Hypocalcemic seizuresHPOHP:0002199
- Very rare (1% to 4% of cases)
Kidney stoneHPOHP:0000787
- Very rare (1% to 4% of cases)
LipomaHPOHP:0012032
- Very rare (1% to 4% of cases)

Where it sits

A kind of: endocrine system disorder
hypercalcemia disease
inborn errors of metabolism
inherited interstitial lung disease
interstitial lung disease specific to childhood
Narrower terms (3): familial hypocalciuric hypercalcemia 1
familial hypocalciuric hypercalcemia 2
familial hypocalciuric hypercalcemia 3

Other names

2 names

Resolves to: familial hypocalciuric hypercalcemia

Also called: familial benign hypercalcemiafamilial benign hypocalciuric hypercalcemia