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Start free with EleplanPseudohypoparathyroidism type 1A
ORPHA:79443Disease
Also called AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia
What it is
Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).
Key facts
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
7Common30–79%
24- Basal ganglia calcification
- Brachydactyly
- Broad 1st metacarpal
- 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
- Increased bone mineral density
- Intellectual disability
- Nystagmus
- Obesity
- Polyphagia
- Short 4th metacarpal
- Short 5th metacarpal
- Short fifth metatarsal
- Short metacarpal
- Short metatarsal
- Short neck
- Thickened calvaria
Sometimes5–29%
32- Abdominal symptom
- Abnormal platelet function
- Anxiety
- Band keratopathy
- Broad distal phalanx of the thumb
- Calcinosis
- Cerebral calcification
- Chest pain
and 24 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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