ORPHA:189466
Familial isolated hypoparathyroidism due to impaired PTH secretion
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Status
- active
A rare genetic endocrine disease characterized by impaired secretion of the parathyroid hormone (PTH) by the parathyroid glands not causing other endocrine or developmental disturbances. Complications include impaired renal function, psychomotor and growth delay, delayed dentition, and cataracts.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated hypoparathyroidism due to impaired PTH secretion | |
| fr | Hypoparathyroïdie isolée familiale par défaut de sécrétion de la PTH | |
| de | Hypoparathyreoidismus, isolierter familiärer, durch gestörte PTH-Sekretion | |
| es | Hipoparatiroidismo aislado familiar por deficiencia de secreción de PTH | |
| it | Ipoparatiroidismo isolato familiare da anomalia della secrezione di PTH | |
| nl | Familiale geïsoleerde hypoparathyreoïdie door verminderde PTH-secretie | |
| pt | Hipoparatiroidismo isolado familiar por secreção de PTH diminuída | |
| pl | Rodzinna izolowana niedoczynność przytarczyc z powodu upośledzonego wydzielania PTH | |
| cs | Familiární izolovaná hypoparatyreóza způsobená porušenou sekrecí PTH | |
| uk | Сімейний ізольований гіпопаратиреоз внаслідок порушення секреції ПТГ | |
| zh | 甲状旁腺激素分泌受损所致家族性孤立甲状旁腺机能减退症 | |
| tr | Bozulmuş PTH sekresyonuna bağlı ailesel izole hipoparatiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146200 | NTBT | validated | |
| ICD-10 | E20.8 | NTBT | attributed | validated |
| ICD-11 | 5A50.0Y | NTBT | index | validated |
| MONDO | 0016000 | E | validated | |
| UMLS | C5680524 | 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 (1):
- ORPHA:2238Familial isolated hypoparathyroidism
rare genetic diseases; rare ophthalmic disorders; rare endocrine diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AIRE | Disease-causing germline mutation(s) in | Assessed | HGNC:360 | ENSG00000160224 | 607358 | 21q22.3 | autoimmune regulator | 28323927[PMID] |
| PTH | Disease-causing germline mutation(s) in | Assessed | HGNC:9606 | ENSG00000152266 | 168450 | 11p15.3 | parathyroid hormone | 2212001[PMID]_10523031[PMID]_22722080[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/189466
- This record as JSON: /data/d/189466.json