Autoimmune hypoparathyroidism
diseaseOn this page
Also known as autoimmune hypoparathyroidism (disease)
Summary
Autoimmune hypoparathyroidism (MONDO:0018242) is a disease. A subtype of autoimmune disorder of endocrine system — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- ClinVar variants: 1
- Phenotypes (HPO): 38
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.013 | Korea, Republic of | Not yet validated |
| Point prevalence | <1 / 1 000 000 | 0.023 | Denmark | Not yet validated |
Signs & symptoms
Clinical features (HPO)
38 HPO clinical features (Orphanet curated; top 38 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0011771 | Autoimmune hypoparathyroidism | Obligate (100%) |
| HP:0002901 | Hypocalcemia | Very frequent (80-99%) |
| HP:0002905 | Hyperphosphatemia | Very frequent (80-99%) |
| HP:0000518 | Cataract | Frequent (30-79%) |
| HP:0002150 | Hypercalciuria | Frequent (30-79%) |
| HP:0003401 | Paresthesia | Frequent (30-79%) |
| HP:0030057 | Autoimmune antibody positivity | Frequent (30-79%) |
| HP:0031817 | Decreased circulating parathyroid hormone level | Frequent (30-79%) |
| HP:0031990 | Chvostek sign | Frequent (30-79%) |
| HP:0033748 | Hypoesthesia | Frequent (30-79%) |
| HP:6000919 | Trousseau sign | Frequent (30-79%) |
| HP:0000509 | Conjunctivitis | Occasional (5-29%) |
| HP:0000716 | Depression | Occasional (5-29%) |
| HP:0000737 | Irritability | Occasional (5-29%) |
| HP:0000738 | Hallucinations | Occasional (5-29%) |
| HP:0000739 | Anxiety | Occasional (5-29%) |
| HP:0001265 | Hyporeflexia | Occasional (5-29%) |
| HP:0001289 | Confusion | Occasional (5-29%) |
| HP:0001596 | Alopecia | Occasional (5-29%) |
| HP:0001657 | Prolonged QT interval | Occasional (5-29%) |
| HP:0002071 | Abnormality of extrapyramidal motor function | Occasional (5-29%) |
| HP:0002094 | Dyspnea | Occasional (5-29%) |
| HP:0002135 | Basal ganglia calcification | Occasional (5-29%) |
| HP:0002728 | Chronic mucocutaneous candidiasis | Occasional (5-29%) |
| HP:0002960 | Autoimmunity | Occasional (5-29%) |
| HP:0003394 | Muscle spasm | Occasional (5-29%) |
| HP:0003472 | Hypocalcemic tetany | Occasional (5-29%) |
| HP:0003739 | Myoclonic spasms | Occasional (5-29%) |
| HP:0004724 | Calcium nephrolithiasis | Occasional (5-29%) |
| HP:0011001 | Increased bone mineral density | Occasional (5-29%) |
| HP:0011458 | Abdominal symptom | Occasional (5-29%) |
| HP:0012049 | Laryngeal dystonia | Occasional (5-29%) |
| HP:0025425 | Laryngospasm | Occasional (5-29%) |
| HP:0100749 | Chest pain | Occasional (5-29%) |
| HP:0001677 | Coronaryartery atherosclerosis | Very rare (<1-4%) |
| HP:0002199 | Hypocalcemic seizures | Very rare (<1-4%) |
| HP:0004308 | Ventricular arrhythmia | Very rare (<1-4%) |
| HP:0005162 | Abnormal left ventricular function | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autoimmune hypoparathyroidism |
| Mondo ID | MONDO:0018242 |
| Orphanet | 36913 |
| ICD-11 | 1790437089 |
| SNOMED CT | 75316000 |
| UMLS | C0271865 |
| MedGen | 488838 |
| GARD | 0018824 |
| Is cancer (heuristic) | no |
Also known as: autoimmune hypoparathyroidism · autoimmune hypoparathyroidism (disease)
Data availability: 1 ClinVar variant · 1 HPO phenotype.
Disease family
This is a subtype of autoimmune disorder of endocrine system. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › endocrine system disorder › autoimmune disorder of endocrine system › autoimmune hypoparathyroidism
Related subtypes (12): type 1 diabetes mellitus, autoimmune thyroid disease, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, autoimmune pancreatitis, autoimmune hepatitis, autoimmune polyendocrinopathy, insulin autoimmune syndrome, IgG4-related sclerosing cholangitis, lymphocytic hypophysitis, autoimmune oophoritis, autoimmune primary ovarian failure
Subtypes (1): autoimmune polyendocrine syndrome type 1
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
1 retrieved; paginated sample, class counts are floors:
1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 267860 | 46;X;t(X;12)(p11.2;q24.33)dn | Likely pathogenic | criteria provided, single submitter |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.