ORPHA:2238
Familial isolated hypoparathyroidism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial isolated hypoparathyroidism | |
| fr | Hypoparathyroïdie isolée familiale | |
| de | Hypoparathyreoidismus, familiärer isolierter | |
| es | Hipoparatiroidismo aislado familiar | |
| it | Ipoparatiroidismo familiare isolato | |
| nl | Familiale geïsoleerde hypoparathyreoïdie | |
| pt | Hipoparatiroidismo familiar isolado | |
| pl | Rodzinna izolowana niedoczynność przytarczyc | |
| cs | Familiární izolovaná hypoparatyreóza | |
| uk | Сімейний ізольований гіпопаратиреоз | |
| zh | 家族性孤立性甲状旁腺功能减退 | |
| tr | Ailesel izole hipoparatiroidi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146200 | BTNT | validated | |
| OMIM | 307700 | BTNT | validated | |
| OMIM | 601198 | BTNT | validated | |
| OMIM | 615361 | BTNT | validated | |
| ICD-10 | E20.8 | NTBT | attributed | validated |
| ICD-11 | 5A50.0Y | NTBT | index | validated |
| MONDO | 0016390 | E | validated | |
| MeSH | C537156 | E | validated | |
| UMLS | C1832648 | E | validated | |
| GARD | 2910 | E | validated | |
| MedDRA | 10090580 | 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:208593Genetic hypoparathyroidism
rare genetic diseases - ORPHA:181405Rare hypoparathyroidism
rare endocrine diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
4
Genes
0 direct · 5 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:428Autosomal dominant hypocalcemia | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1514 | ENSG00000036828 | 601199 | 3q13.33-q21.1 | calcium sensing receptor | 9920108[PMID]_12733714[PMID]_22789683[PMID] |
| GNA11 | ORPHA:428Autosomal dominant hypocalcemia | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:4379 | ENSG00000088256 | 139313 | 19p13.3 | G protein subunit alpha 11 | 23802516[PMID] |
| GCM2 | ORPHA:2239Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4198 | ENSG00000124827 | 603716 | 6p24.2 | GCM transcription factor 2 | 11602629[PMID] |
| AIRE | ORPHA:189466Familial isolated hypoparathyroidism due to impaired PTH secretion | Disease-causing germline mutation(s) in | Assessed | HGNC:360 | ENSG00000160224 | 607358 | 21q22.3 | autoimmune regulator | 28323927[PMID] |
| PTH | ORPHA:189466Familial isolated hypoparathyroidism due to impaired PTH secretion | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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
19 annotations · validated 2025-01-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0002901 | Hypocalcemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0003198 | Myopathy | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0011675 | Arrhythmia | |
| HP:0000518 | Cataract | |
| HP:0002514 | Cerebral calcification | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0003394 | Muscle spasm | |
| HP:0001324 | Muscle weakness | |
| Occasional (29-5%) | ||
| HP:0007352 | Cerebellar calcifications | |
| HP:0031627 | Globus pallidus calcification | |
| HP:0025425 | Laryngospasm | |
| HP:0000112 | Nephropathy | |
| HP:0004322 | Short stature | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 23155703[PMID]_27980765[PMID]_35165722[PMID]_24133354[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2238
- This record as JSON: /data/d/2238.json