Orphanet: Clinical Signs and Symptoms

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.

Clinical signs and symptoms

Always present

Pseudohypoparathyroidism HP:0000852

Very frequent

Elevated circulating parathyroid hormone level HP:0003165
Hyperphosphatemia HP:0002905
Hypocalcemia HP:0002901

Frequent

Hypocalcemic seizures HP:0002199

Occasional

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

Exclusion criterion *

Autoimmune antibody positivity HP:0030057
Calcinosis HP:0003761
Ectopic calcification HP:0010766
Low urinary cyclic AMP response to PTH administration HP:0003456

* Phenotypic abnormalities noted as « exclusion criterion » are those that are always absent in a particular disease and therefore exclude its diagnosis.

Additional information

Further information

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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.