Pseudohypoparathyroidism type 2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoparathyroidism type 2 | |
| fr | Pseudohypoparathyroïdie type 2 | |
| de | Pseudohypoparathyreoidismus Typ 2 | |
| es | Pseudohipoparatiroidismo tipo 2 | |
| it | Pseudoipoparatiroidismo, tipo 2 | |
| nl | Pseudohypoparathyreoïdie type 2 | |
| pt | Pseudohipoparatiroidismo tipo 2B | |
| pl | Rzekoma niedoczynność przytarczyc typu 2 | |
| cs | Pseudohypoparatyreóza, typ 2 | |
| uk | Псевдогіпопаратиреоз, тип 2 | |
| zh | 假性甲状旁腺功能减退症2型 | |
| tr | Psödohipoparatiroidizm tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203330 | E | validated | |
| ICD-10 | E20.1 | NTBT | attributed | validated |
| ICD-11 | 5A50.1 | NTBT | index | validated |
| MONDO | 0008749 | E | validated | |
| MeSH | C548077 | E | validated | |
| UMLS | C2932717 | E | validated | |
| GARD | 10682 | 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:97593Pseudohypoparathyroidism
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | 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.
HPO phenotypes
16 annotations · validated 2017-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000852 | Pseudohypoparathyroidism | |
| Very frequent (99-80%) | ||
| HP:0003165 | Elevated circulating parathyroid hormone level | |
| HP:0002905 | Hyperphosphatemia | |
| HP:0002901 | Hypocalcemia | |
| Frequent (79-30%) | ||
| HP:0002199 | Hypocalcemic seizures | |
| Occasional (29-5%) | ||
| HP:0011458 | Abdominal symptom | |
| HP:0003472 | Hypocalcemic tetany | |
| HP:0012049 | Laryngeal dystonia | |
| HP:0003394 | Muscle spasm | |
| HP:0003739 | Myoclonic spasms | |
| HP:0003401 | Paresthesia | |
| HP:0001657 | Prolonged QT interval | |
| Excluded (0%) | ||
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0003761 | Calcinosis | |
| HP:0010766 | Ectopic calcification | |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24694489[PMID]_4370302[PMID]_4355058[PMID]_21816789[PMID]_2109828[PMID]_9506735[PMID]_10700702[PMID]_2848415[PMID]_10478236[PMID]_20610593[PMID]_20719837[PMID]_21525160[PMID]_24684469[PMID]_11834431[PMID]_24030943[PMID]_26160136[PMID]_8427051[PMID]_18650515[PMID]_18535072[PMID]_11067869[PMID]_4309802[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94090
- This record as JSON: /data/d/94090.json