Familial isolated hyperparathyroidism
Synonyms: FIHPT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, hereditary, familial primary hyperparathyroidism disease characterized by primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated hyperparathyroidism | FIHPT |
| fr | Hyperparathyroïdie isolée familiale | |
| de | Hyperparathyreoidismus, familiär isolierter (FIHPT) | |
| es | Hiperparatiroidismo aislado familiar | = en |
| it | Iperparatiroidismo isolato familiare | |
| nl | Familiale geïsoleerde hyperparathyreoïdie | = en |
| pt | Hiperparatiroidismo isolado familiar | = en |
| pl | Rodzinna izolowana nadczynność przytarczyc | = en |
| cs | Familiární izolovaný hyperparathyroidismus | = en |
| uk | Сімейний ізольований гіперпаратиреоз | = en |
| zh | 家族性孤立型甲状旁腺功能亢进 | = en |
| tr | ailesel izole hiperparatiroidi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 145000 | BTNT | validated | |
| OMIM | 600166 | BTNT | not yet validated | |
| OMIM | 610071 | BTNT | validated | |
| OMIM | 617343 | BTNT | validated | |
| OMIM | 618883 | BTNT | validated | |
| ICD-10 | E21.0 | NTBT | attributed | validated |
| ICD-11 | 5A51.0 | NTBT | index | validated |
| MONDO | 0015027 | E | validated | |
| MeSH | C564166 | E | validated | |
| UMLS | C4551961 | E | validated | |
| MedDRA | 10080773 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2207Familial primary hyperparathyroidism
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99877OBSOLETE: Familial parathyroid adenoma referred to · inactive
- ORPHA:99878OBSOLETE: Primary parathyroid hyperplasia referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDC73 | Disease-causing germline mutation(s) in | Assessed | HGNC:16783 | ENSG00000134371 | 607393 | 1q31.2 | cell division cycle 73 | 20301744[PMID]_15531515[PMID] |
| GCM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4198 | ENSG00000124827 | 603716 | 6p24.2 | GCM transcription factor 2 | 27745835[PMID] |
| MEN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7010 | ENSG00000133895 | 613733 | 11q13.1 | menin 1 | 9792884[PMID]_10664521[PMID]_12699448[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 families | Worldwide | Family(ies) | Validated | 18084346[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_18084346[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.
HPO phenotypes
13 annotations · validated 2016-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000934 | Chondrocalcinosis | |
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0040160 | Generalized osteoporosis | |
| HP:0003072 | Hypercalcemia | |
| HP:0002150 | Hypercalciuria | |
| HP:0003109 | Hyperphosphaturia | |
| HP:0002148 | Hypophosphatemia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000938 | Osteopenia | |
| HP:0002897 | Parathyroid adenoma | |
| HP:0008200 | Primary hyperparathyroidism | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 23652676[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99879
- This record as JSON: /data/d/99879.json