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Start free with EleplanPseudohypoparathyroidism type 1C
ORPHA:79444Disease
What it is
Pseudohypoparathyroidism type 1c (PHP1c) is 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).
Key facts
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
5Common30–79%
23- Basal ganglia calcification
- Brachydactyly
- Cataract
- Choroid plexus calcification
- Constrictive median neuropathy
- Decreased response to growth hormone stimulation test
- Delayed eruption of teeth
- Depressed nasal bridge
- Ectopic ossification
- Enamel hypoplasia
- Full cheeks
- Intellectual disability
- Nystagmus
- Obesity
- Polyphagia
- Round face
- Short 4th metacarpal
- Short 5th metacarpal
- Short fifth metatarsal
- Short metacarpal
- Short metatarsal
- Short neck
- Short stature
Sometimes5–29%
23- Abdominal symptom
- Anxiety
- Broad distal phalanx of the thumb
- Calcinosis
- Cerebral calcification
- Chest pain
- Confusion
- Conjunctivitis
and 15 more in this range
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
ICD-10 codes
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
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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