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Pseudohypoparathyroidism type 1B
1 OMIM reference -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
McCune-Albright syndrome
1 OMIM reference -
1 associated gene
35 signs/symptoms
Pseudohypoparathyroidism type 1B
McCune-Albright syndrome

GNAS
(UniProt - OMIM)
 GNAS
(UniProt - OMIM)
STX16
(UniProt - OMIM)

COMMON
GENES 		GNAS


Citations in the biomedical literature:


Pseudohypoparathyroidism type 1B
GNAS STX16
McCune-Albright syndrome



Pseudohypoparathyroidism type 1B
McCune-Albright syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Gonadotropin-independent female-limited sexual precocity
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: C548075
External references:
1 OMIM reference -
1 MeSH reference: D005359
McCune-Albright syndrome

Very frequent
- Bone pain
- Cafe-au-lait spot
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypophosphatemia
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Precocious puberty

Occasional
- Abnormal hepatic enzymes / transaminases
- Abnormal / polycystic ovaries
- Anomalies of ear and hearing
- Anomalies of eyes and vision
- Anomalies of teeth and dentition
- Breast neoplasm / tumor / carcinoma / cancer
- Cortico-adrenal hyperplasia / hypersecretion
- Cushingoid morphotype
- Dental malocclusion
- Enamel anomaly
- Face / facial anomalies
- Goiter
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperparathyroidy
- Hyperthyroidy
- Kyphosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroorchidism / macrotestes
- Macropenis / megapenis / large penis
- Multiple caries
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Palate anomalies
- Prognathism / prognathia
- Sarcoma
- Tall stature / gigantism / growth acceleration
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Thyroid neoplasm / tumor / carcinoma / cancer


Pseudohypoparathyroidism type 1B

(no data available)