pseudohypoparathyroidism type 1A

MONDO:0007078Mondo

Findings

No curated finding names pseudohypoparathyroidism type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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).

Definition from the Mondo Disease Ontology (MONDO:0007078), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Infantile onset

Features

69 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
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
PseudohypoparathyroidismHPOHP:0000852
- 2 of 2 reported patients
- Obligate (100% of cases)
Short statureHPOHP:0004322
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
Subcutaneous ossificationHPOHP:0034282
- 2 of 2 reported patients
Elevated circulating parathyroid hormone levelHPOHP:0003165
- 1 of 2 reported patients
- Very frequent (80% to 99% 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
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: acromelic dysplasia
disorder of GNAS inactivation
pseudohypoparathyroidism

Other names

6 names

Resolves to: pseudohypoparathyroidism type 1A

Also called: AHO-PHP syndrome IaAlbright hereditary osteodystrophyAlbright hereditary osteodystrophy with multiple hormone resistanceAlbright hereditary osteodystrophy-PHP syndrome IaPHP1APseudohypoparathyroidism Ia

Show the remaining 57

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)
Ectopic ossificationHPOHP:0011986
- Frequent (30% to 79% of cases)
Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
Full cheeksHPOHP:0000293
- Frequent (30% to 79% of cases)
Increased bone mineral densityHPOHP:0011001
- Frequent (30% to 79% of cases)
Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
PolyphagiaHPOHP:0002591
- Frequent (30% to 79% of cases)
Short 4th metacarpalHPOHP:0010044
- Frequent (30% to 79% of cases)
Short 5th metacarpalHPOHP:0010047
- Frequent (30% to 79% of cases)
Short fifth metatarsalHPOHP:0004704
- Frequent (30% to 79% of cases)
Short metacarpalHPOHP:0010049
- Frequent (30% to 79% of cases)
Short metatarsalHPOHP:0010743
- Frequent (30% to 79% of cases)
Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
Thickened calvariaHPOHP:0002684
- Frequent (30% to 79% of cases)
HypothyroidismHPOHP:0000821
- 1 of 2 reported patients
Abdominal symptomHPOHP:0011458
- Occasional (5% to 29% of cases)
Abnormal platelet functionHPOHP:0011869
- Occasional (5% to 29% of cases)
AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
Band keratopathyHPOHP:0000585
- Occasional (5% to 29% of cases)
Broad distal phalanx of the thumbHPOHP:0009642
- Occasional (5% to 29% of cases)
CalcinosisHPOHP:0003761
- Occasional (5% to 29% of cases)
Cerebral calcificationHPOHP:0002514
- Occasional (5% to 29% of cases)
Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
ChoreoathetosisHPOHP:0001266
- Occasional (5% to 29% of cases)
ConfusionHPOHP:0001289
- Occasional (5% to 29% of cases)
ConjunctivitisHPOHP:0000509
- Occasional (5% to 29% of cases)
DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
DyspneaHPOHP:0002094
- Occasional (5% to 29% of cases)
Hypergonadotropic hypogonadismHPOHP:0000815
- Occasional (5% to 29% of cases)
Hyperostosis frontalis internaHPOHP:0004438
- Occasional (5% to 29% of cases)
HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
Hypocalcemic tetanyHPOHP:0003472
- Occasional (5% to 29% of cases)
HyporeflexiaHPOHP:0001265
- Occasional (5% to 29% of cases)
Involuntary movementsHPOHP:0004305
- Occasional (5% to 29% of cases)
IrritabilityHPOHP:0000737
- Occasional (5% to 29% of cases)
Laryngeal dystoniaHPOHP:0012049
- Occasional (5% to 29% of cases)
Muscle spasmHPOHP:0003394
- Occasional (5% to 29% of cases)
Myoclonic spasmsHPOHP:0003739
- Occasional (5% to 29% of cases)
OligomenorrheaHPOHP:0000876
- Occasional (5% to 29% of cases)
Osteoma cutisHPOHP:0025027
- Occasional (5% to 29% of cases)
ParesthesiaHPOHP:0003401
- Occasional (5% to 29% of cases)
Prolonged QT intervalHPOHP:0001657
- Occasional (5% to 29% of cases)
Reduced bone mineral densityHPOHP:0004349
- Occasional (5% to 29% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Short 3rd metacarpalHPOHP:0010041
- Occasional (5% to 29% of cases)
Spinal cord compressionHPOHP:0002176
- Occasional (5% to 29% of cases)
StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Elevated circulating calcitonin concentrationHPOHP:0003528
- Very rare (1% to 4% of cases)
Hypocalcemic seizuresHPOHP:0002199
- Very rare (1% to 4% of cases)
Reduced circulating prolactin concentrationHPOHP:0008202
- Very rare (1% to 4% of cases)

Findings

Definition

Features

Genes

Where it sits

Other names

Reported absent (1)