Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic endocrine disease characterized by severe hypocalcemia, seizures, hyperphosphatemia, and impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands (not affecting other endocrine glands). Complications include psychomotor and growth delay, delayed dentition, and cataracts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | |
| fr | Hypoparathyroïdie isolée familiale due à l'agénésie de la glande parathyroïde | |
| de | Hypoparathyreoidismus, familiärer isolierter, bei Agenesie der Nebenschilddrüsen | |
| es | Hipoparatiroidismo aislado familiar por agenesia de la glándula paratiroidea | |
| it | Ipoparatiroidismo isolato familiare da agenesia delle ghiandole paratiroidee | |
| nl | Familiale geïsoleerde hypoparathyreoïdie door agenesie van bijschildklier | |
| pt | Hipoparatiroidismo isolado familiar por agenesia da glândula paratiroide | |
| pl | Rodzinna izolowana niedoczynność przytarczyc spowodowana agnezją przytarczyc | |
| cs | Familiární izolovaná hypoparatyreóza způsobená agenezí příštítných tělísek | |
| uk | Сімейний ізольований гіпопаратиреоз внаслідок агенезії паращитовидної залози | |
| zh | 家族性孤立性甲状旁腺功能减退所致甲状旁腺发育不全 | |
| tr | Paratiroid bezinin agenezisine bağlı ailesel izole hipoparatiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146200 | NTBT | validated | |
| OMIM | 307700 | E | validated | |
| ICD-10 | E20.8 | NTBT | attributed | validated |
| ICD-11 | 5A50.0Y | NTBT | index | validated |
| MONDO | 0010618 | E | validated | |
| UMLS | C5680706 | 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:2238Familial isolated hypoparathyroidism
rare genetic diseases; rare ophthalmic disorders; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GCM2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4198 | ENSG00000124827 | 603716 | 6p24.2 | GCM transcription factor 2 | 11602629[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 14431322[PMID]_8981958[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14431322[PMID]_8981958[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
8 annotations · validated 2016-09-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0008198 | Congenital hypoparathyroidism | |
| HP:0002901 | Hypocalcemia | |
| HP:0008211 | Parathyroid agenesis | |
| Very frequent (99-80%) | ||
| HP:0002150 | Hypercalciuria | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002199 | Hypocalcemic seizures | |
| Frequent (79-30%) | ||
| HP:0003251 | Male infertility | |
| Occasional (29-5%) | ||
| HP:0002917 | Hypomagnesemia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 23155703[PMID]_15728199[PMID]_11602629[PMID]_25279501[PMID]_25137426[PMID]_18182452[PMID]_18182452[PMID]_16167084[PMID]_7196945[PMID]_1973175[PMID]_10910362[PMID]_18182452[PMID]_20463099[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2239
- This record as JSON: /data/d/2239.json