Autoimmune hypoparathyroidism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare parathyroid disease and phosphocalcic metabolism anomaly characterized by hypocalcemia, hyperphosphatemia, hypercalciuria, and low serum parathyroid hormone levels, in the presence of autoantibodies against parathyroid tissue. Clinical signs and symptoms are of variable severity and include paresthesia, seizures, laryngospasm, tetany, cardiac dysrhythmias, calcifications of the basal ganglia, and neuropsychological manifestations such as anxiety, depression, confusion, or hallucination. The condition may occur as an isolated disease or in association with other autoimmune diseases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune hypoparathyroidism | |
| fr | Hypoparathyroïdie auto-immune | |
| de | Hypoparathyreoidismus, autoimmuner Typ | |
| es | Hipoparatiroidismo autoinmune | |
| it | Ipoparatiroidismo autoimmune | |
| nl | Auto-immune hypoparathyreoïdie | |
| pt | Hipoparatiroidismo autoimune | |
| pl | Autoimmunologiczna niedoczynność przytarczyc | |
| cs | Autoimunní hypoparathyreoidismus | |
| uk | Аутоімунний гіпопаратиреоз | |
| zh | 自身免疫性甲状旁腺机能减退症 | |
| tr | Otoimmün hipoparatiroidizm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E20.8 | NTBT | attributed | validated |
| ICD-11 | 5A50.03 | E | specific | validated |
| MONDO | 0018242 | E | validated | |
| UMLS | C0271865 | E | validated | |
| MedDRA | 10090022 | 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:181405Rare hypoparathyroidism
rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.013 / 100 000 | Korea, Republic of | Value and class | Not yet validated | 32384131[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.023 / 100 000 | Denmark | Value and class | Not yet validated | 25753591 [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
38 annotations · validated 2025-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011771 | Autoimmune hypoparathyroidism | |
| Very frequent (99-80%) | ||
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| Frequent (79-30%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0000518 | Cataract | |
| HP:0031990 | Chvostek sign | |
| HP:0031817 | Decreased circulating parathyroid hormone level | |
| HP:0002150 | Hypercalciuria | |
| HP:0033748 | Hypoesthesia | |
| HP:0003401 | Paresthesia | |
| HP:6000919 | Trousseau sign | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0001596 | Alopecia | |
| HP:0000739 | Anxiety | |
| HP:0002960 | Autoimmunity | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0004724 | Calcium nephrolithiasis | |
| HP:0100749 | Chest pain | |
| HP:0002728 | Chronic mucocutaneous candidiasis | |
| HP:0001289 | Confusion | |
| HP:0000509 | Conjunctivitis | |
| HP:0000716 | Depression | |
| HP:0002094 | Dyspnea | |
| HP:0000738 | Hallucinations | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0001265 | Hyporeflexia | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000737 | Irritability | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0025425 | Laryngospasm | |
| HP:0003394 | Muscle spasm | |
| HP:0003739 | Myoclonic spasms | |
| HP:0001657 | Prolonged QT interval | |
| Very rare (<4-1%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0004308 | Ventricular arrhythmia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 11834431[PMID]_26160136[PMID]_15356052[PMID]_24424178[PMID]_19959750[PMID]_18650515[PMID]_19328421[PMID]_15342816[PMID]_18535072[PMID]_4164473[PMID]_25905251[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/36913
- This record as JSON: /data/d/36913.json