pseudopseudohypoparathyroidism
Findings
No curated finding names pseudopseudohypoparathyroidism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0012912), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Ectopic ossificationHPOHP:0011986
- Frequent (30% to 79% of cases)
- Round faceHPOHP:0000311
- Frequent (30% to 79% of cases)
- Short 4th metacarpalHPOHP:0010044
- Frequent (30% to 79% of cases)
- Short 5th fingerHPOHP:0009237
- Frequent (30% to 79% of cases)
- Short 5th metacarpalHPOHP:0010047
- Frequent (30% to 79% of cases)
- Short metatarsalHPO
Show the remaining 3
- Osteoma cutisHPOHP:0025027
- Occasional (5% to 29% of cases)
- Short distal phalanx of the 3rd fingerHPOHP:0004180
- Occasional (5% to 29% of cases)
- Short distal phalanx of the thumbHPOHP:0009650
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:4392HGNC:4392
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2017
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: pseudopseudohypoparathyroidism
- Also called
- aho-PPHP syndromeAlbright hereditary osteodystrophy-PPHP syndromeNormocalcemic pseudohypoparathyroidism (disorder) [ambiguous]