ORPHA:405
Familial hypocalciuric hypercalcemia
Synonyms: FBH · FBHH · FHH · Familial benign hypercalcemia · Familial benign hypocalciuric hypercalcemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hypocalciuric hypercalcemia | FBH · FBHH · FHH · Familial benign hypercalcemia · Familial benign hypocalciuric hypercalcemia |
| fr | Hypercalcémie hypocalciurique familiale | FBH · FBHH · FHH · Hypercalcémie bénigne familiale · Hypercalcémie hypocalciurique bénigne familiale · Syndrome de Marx |
| de | Hyperkalzämie, familiäre hypokalziurische | FBH · FBHH · FHH · Familiäre benigne hypokalziurische Hyperkalzämie · Hyperkalzämie, benigne familiäre |
| es | Hipercalcemia hipocalciúrica familiar | FBH · FBHH · FHH · Hipercalcemia familiar benigna · Hipercalcemia hipocalciúrica familiar benigna |
| it | Ipercalcemia ipocalciurica familiare | FBH · FBHH · FHH · Ipercalcemia benigna familiare · Ipercalcemia ipocalciurica benigna familiare |
| nl | Familiale hypocalciurische hypercalciëmie | FBH · FBHH · FHH · Familiale goedaardige hypercalciëmie · Familiale goedaardige hypocalciurische hypercalciëmie |
| pt | Hipercalcemia hipocalciúrica familiar | FBH · FBHH · FHH · Hipercalcemia benigna familiar · Hipercalcemia hipocalciúrica benigna familiar |
| pl | Rodzinna hiperkalcemia hipokalciuryczna | FBH · FBHH · FHH · Rodzinna łagodna hiperkalcemia · Rodzinna łagodna hiperkalcemia hipokalciuryczna |
| cs | Familiární hypokalciurická hyperkalcemie | FBH · FBHH · FHH · Familiární benigní hyperkalcemie · Familiární benigní hypokalciurická hyperkalcemie |
| uk | Сімейна гіпокальціурична гіперкальціємія | Сімейна доброякісна гіперкальціємія · Сімейна доброякісна гіпокальціурична гіперкальціємія · FBH · FBHH · FHH |
| zh | 家族性低尿钙高血钙症 | 家族性良性低尿钙高血钙症 |
| tr | Ailesel hipokalsiürik hiperkalsemi | FBH · FHH · FBHH · Ailesel selim hiperkalsemi · Ailesel selim hipokalsiürik hiperkalsemi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145980 | BTNT | validated | |
| OMIM | 145981 | BTNT | validated | |
| OMIM | 600740 | BTNT | validated | |
| ICD-10 | E83.5 | NTBT | attributed | validated |
| ICD-11 | 5A51.2 | E | specific | validated |
| MONDO | 0018458 | E | validated | |
| UMLS | C1809471 | E | validated | |
| GARD | 10828 | E | validated | |
| MedDRA | 10068698 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93447Primary bone dysplasia with defective bone mineralization
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183634Rare genetic parathyroid disease and phosphocalcic metabolism disorder
rare genetic diseases - ORPHA:68415Rare parathyroid disease and phosphocalcic metabolism anomaly
rare endocrine diseases - ORPHA:264719Secondary interstitial lung disease specific to childhood associated with a metabolic disease
rare respiratory diseases; rare transplant-related disorders
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CASR | ORPHA:93372Familial hypocalciuric hypercalcemia type 1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor | |
| GNA11 | ORPHA:101049Familial hypocalciuric hypercalcemia type 2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 23802516[PMID] |
| AP2S1 | ORPHA:101050Familial hypocalciuric hypercalcemia type 3 | Disease-causing germline mutation(s) in | Assessed | HGNC:565 | ENSG00000042753 | 602242 | 19q13.32 | adaptor related protein complex 2 subunit sigma 1 | 23222959[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0003072 | Hypercalcemia | Diagnostic criterion |
| HP:0003127 | Hypocalciuria | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption | Diagnostic criterion |
| HP:0003513 | Reduced ratio of renal calcium clearance to creatinine clearance | |
| Frequent (79-30%) | ||
| HP:0003072 | Hypercalcemia | |
| HP:0002749 | Osteomalacia | |
| HP:0008732 | Renal hypophosphatemia | |
| Occasional (29-5%) | ||
| HP:0000934 | Chondrocalcinosis | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0012378 | Fatigue | |
| HP:0002315 | Headache | |
| HP:0002918 | Hypermagnesemia | |
| HP:0012609 | Hypomagnesiuria | |
| HP:0002017 | Nausea and vomiting | |
| HP:0004398 | Peptic ulcer | |
| Very rare (<4-1%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0012032 | Lipoma | |
| HP:0000787 | Nephrolithiasis | |
| HP:0001733 | Pancreatitis | |
| Excluded (0%) | ||
| HP:0000121 | Nephrocalcinosis | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 26963950[PMID]_22047572[PMID]_7311809[PMID]_4643023[PMID]_23802516[PMID]_23222959[PMID]_1524075[PMID]_15269316[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/405
- This record as JSON: /data/d/405.json