Pseudohypoparathyroidism
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudohypoparathyroidism | |
| fr | Pseudo-hypoparathyroïdie | |
| de | Pseudohypoparathyreoidismus | |
| es | Pseudohipoparatiroidismo | |
| it | Pseudoipoparatiroidismo | |
| nl | Pseudohypoparathyreoïdie | |
| pt | Pseudohipoparatiroidismo | |
| pl | Rzekoma niedoczynność przytarczyc | |
| cs | Pseudohypoparatyreózy | |
| uk | Псевдогіпопаратиреоз | |
| zh | 假性甲状旁腺功能减退症 | |
| tr | Psödohipoparatiroidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E20.1 | E | specific | validated |
| ICD-11 | 5A50.1 | E | specific | validated |
| GARD | 10758 | 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 (5):
- ORPHA:139009Developmental anomaly of metabolic origin
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:208593Genetic hypoparathyroidism
rare genetic diseases - ORPHA:183592Genetic renal tubular disease
rare genetic diseases - ORPHA:181405Rare hypoparathyroidism
rare endocrine diseases - ORPHA:93603Rare renal tubular disease
rare renal diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:665Albright hereditary osteodystrophy moved to · inactive
- ORPHA:457059OBSOLETE: Pseudohypoparathyroidism with Albright hereditary osteodystrophy referred to · inactive
- ORPHA:457062OBSOLETE: Pseudohypoparathyroidism without Albright hereditary osteodystrophy referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.67 / 100 000 | Italy | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.34 / 100 000 | Japan | Value and class | Validated | 10695258[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | ORPHANET_[EXPERT] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97593
- This record as JSON: /data/d/97593.json