pseudohypoparathyroidism type 1C
Findings
No curated finding names pseudohypoparathyroidism type 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).
Definition from the Mondo Disease Ontology (MONDO:0012911), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
55 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.
- Elevated circulating parathyroid hormone levelHPOHP:0003165
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 6 of 6 reported patients
- PseudohypoparathyroidismHPOHP:0000852
- 6 of 6 reported patients
- Obligate (100% of cases)
- Round faceHPOHP:0000311
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Short metacarpalHPOHP:0010049
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- HypocalcemiaHPOHP:0002901
Show the remaining 43
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- Choroid plexus calcificationHPOHP:0006960
- Frequent (30% to 79% of cases)
- Constrictive median neuropathyHPOHP:0012185
- Frequent (30% to 79% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% 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 · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: pseudohypoparathyroidism type 1C
- Also called
- pseudohypoparathyroidism Ic