ORPHA:93372
Familial hypocalciuric hypercalcemia type 1
Synonyms: FHH type 1
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
This disease is described under Familial hypocalciuric hypercalcemia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial hypocalciuric hypercalcemia type 1 | FHH type 1 |
| fr | Hypercalcémie hypocalciurique familiale type 1 | FHH type 1 · Syndrome de Marx type 1 |
| de | Hyperkalzämie, familiäre hypokalziurische, Typ 1 | FHH Typ 1 |
| es | Hipercalcemia hipocalciúrica familiar tipo 1 | FHH tipo 1 |
| it | Ipercalcemia ipocalciurica familiare, tipo 1 | FHH, tipo 1 |
| nl | Familiale hypocalciurische hypercalciëmie type 1 | = en |
| pt | Hipercalcémia hipocalciúrica, familiar, tipo 1 | |
| pl | Rodzinna hiperkalcemia hipokalciuryczna typu 1 | FHH typu 1 |
| cs | Familiární hypokalciurická hyperkalcémie, typ 1 | FHH typ 1 |
| uk | Сімейна гіпокальціурична гіперкальціємія, тип 1 | FHH тип 1 |
| zh | 家族性低尿钙高血钙症1型 | FFH1型 |
| tr | ailesel hipokalsiürik hiperkalsemi tip 1 | FHH tip 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145980 | E | validated | |
| ICD-10 | E83.5 | NTBT | attributed | validated |
| ICD-11 | 5A51.2 | NTBT | attributed | validated |
| MONDO | 0007791 | E | validated | |
| MeSH | C537145 | E | validated | |
| UMLS | C0342637 | E | validated | |
| GARD | 2796 | E | validated | |
| MedDRA | 10068704 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:405Familial hypocalciuric hypercalcemia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare respiratory diseases; rare endocrine diseases; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CASR | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | 74.1 / 100 000 | United States | Value and class | Validated | 32386559[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.5 / 100 000 | Worldwide | Value and class | Validated | 21986511[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.3 / 100 000 | United Kingdom | Value and class | Validated | 11353947[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93372
- This record as JSON: /data/d/93372.json