Clinical Signs and Symptoms
ORPHA:94090 Pseudohypoparathyroidism type 2
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Pseudohypoparathyroidism HP:0000852
Always present
- Elevated circulating parathyroid hormone level HP:0003165
- Hyperphosphatemia HP:0002905
- Hypocalcemia HP:0002901
Very frequent
- Hypocalcemic seizures HP:0002199
Frequent
- Abdominal symptom HP:0011458
- Hypocalcemic tetany HP:0003472
- Laryngeal dystonia HP:0012049
- Muscle spasm HP:0003394
- Myoclonic spasms HP:0003739
- Paresthesia HP:0003401
- Prolonged QT interval HP:0001657
Occasional
- Autoimmune antibody positivity HP:0030057
- Calcinosis HP:0003761
- Ectopic calcification HP:0010766
- Low urinary cyclic AMP response to PTH administration HP:0003456
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.