Pseudopseudohypoparathyroidism

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Pseudopseudohypoparathyroidism

ORPHA:79445Disease

Also called AHO-PPHP syndrome · Albright hereditary osteodystrophy-PPHP syndrome

What it is

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).

Key facts

Age of onset
All ages
Inheritance
Autosomal dominant
Classified as
Disease

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

GNASDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

E20.1filed under a broader ICD-10 category — shared with 5 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 7860MESH D011556MONDO 0012912OMIM 612463UMLS C0033835

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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