Pseudohypoparathyroidism type 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PHP II PHP2 |
| Number of Symptoms | 6 |
| OrphanetNr: | 94090 |
| OMIM Id: |
203330
|
| ICD-10: |
E20.1 |
| UMLs: |
C0271870 C2932717 |
| MeSH: |
C548077 |
| MedDRA: |
|
| Snomed: |
42183005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic renal tubular disease
-Rare genetic disease Pseudohypoparathyroidism -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare genetic disease -Rare renal disease Rare renal tubular disease -Rare renal disease |
Symptom Information:
|
|
(HPO:0000852) | Pseudohypoparathyroidism | 6 / 7739 | ||||
|
|
(HPO:0003165) | Elevated circulating parathyroid hormone level | 17 / 7739 | ||||
|
|
(HPO:0002905) | Hyperphosphatemia | 18 / 7739 | ||||
|
|
(HPO:0002901) | Hypocalcemia | 56 / 7739 | ||||
|
|
(HPO:0003745) | Sporadic | 131 / 7739 | ||||
|
|
(OMIM) | Normal or increased urinary cyclic AMP response to PTH administration | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Pseudohypoparathyroidism (PHP) is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). PHP type II is characterized by a normal cAMP response to PTH infusion, but a deficient ... |
| Clinical Description OMIM |
Patients with PHP type II have hypocalcemia, hyperphosphatemia, and increased serum PTH. They lack physical features associated with AHO. Patients with PHP type I have an abnormally low urinary excretion of cyclic AMP in response to PTH administration; ... |