Pseudohypoparathyroidism type 2
disease diseaseOn this page
Also known as PHP IIPHP2pseudohypoparathyroidism, type II
Summary
Pseudohypoparathyroidism type 2 (MONDO:0008749) is a disease. A subtype of pseudohypoparathyroidism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Europe) [Orphanet-validated]
- Phenotypes (HPO): 16
Clinical features
Signs & symptoms
Clinical features (HPO)
16 HPO clinical features (Orphanet curated; top 16 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000852 | Pseudohypoparathyroidism | Obligate (100%) |
| HP:0002901 | Hypocalcemia | Very frequent (80-99%) |
| HP:0002905 | Hyperphosphatemia | Very frequent (80-99%) |
| HP:0003165 | Elevated circulating parathyroid hormone level | Very frequent (80-99%) |
| HP:0002199 | Hypocalcemic seizures | Frequent (30-79%) |
| HP:0001657 | Prolonged QT interval | Occasional (5-29%) |
| HP:0003394 | Muscle spasm | Occasional (5-29%) |
| HP:0003401 | Paresthesia | Occasional (5-29%) |
| HP:0003472 | Hypocalcemic tetany | Occasional (5-29%) |
| HP:0003739 | Myoclonic spasms | Occasional (5-29%) |
| HP:0011458 | Abdominal symptom | Occasional (5-29%) |
| HP:0012049 | Laryngeal dystonia | Occasional (5-29%) |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration | Excluded (0%) |
| HP:0003761 | Calcinosis | Excluded (0%) |
| HP:0010766 | Ectopic calcification | Excluded (0%) |
| HP:0030057 | Autoimmune antibody positivity | Excluded (0%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | pseudohypoparathyroidism type 2 |
| Mondo ID | MONDO:0008749 |
| MeSH | C548077 |
| OMIM | 203330 |
| Orphanet | 94090 |
| ICD-11 | 1650158822 |
| SNOMED CT | 42183005 |
| UMLS | C2932717 |
| MedGen | 444371 |
| GARD | 0010682 |
| Is cancer (heuristic) | no |
Also known as: PHP II · PHP2 · pseudohypoparathyroidism, type II
Disease family
This is a subtype of pseudohypoparathyroidism. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn metal metabolism disorder › pseudohypoparathyroidism › pseudohypoparathyroidism type 2
Related subtypes (4): pseudohypoparathyroidism type 1A, pseudohypoparathyroidism type 1B, pseudohypoparathyroidism type 1C, pseudopseudohypoparathyroidism
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
No tiered GWAS variants or ClinVar records for this disease.
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.