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GENATLAS PHENOTYPE
last update : 14-04-2010
Symbol PHP1C
Location 20q13.32
Name pseudohypoparathyroidism type IC
Other name(s) Albright hereditary osteodystrophy
Corresponding gene GNAS
Other symbol(s) PHP1A, PPHP, AHO
Main clinical features
  • parathyroid resistant hypocalcemia, hyperphosphatemia and other endocrine abnormalities
  • characterized by a constellation of several distinct physical features, including short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies, mental retardation
  • often associated with pseudohypoparathyoidism, hypocalcemia, and elevated PTH levels , with resistance to parathyroid hormone as well as to other hormones
    • Genetic determination autosomal dominant
    Related entries . cases without endocrine anomalies (pseudo-pseudohypoparathyroidism) even in a same family, parathyroid resistance is paternally imprinted
    Function/system disorder osteo-articular
    endocrinology
    Type disease
    Gene product
    Name Gsalpha subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   under-expression maternal inherited inactivating mutation causes either PHPH1a and PPHP
    Remark(s) nonsense mutation affecting exon 3 leads to a deficiency limited to the long transcript variants Gs-L, whereas amount and function of the short variants Gs-S are seemingly not affected, and to Albright hereditary osteodystrophy with normocalcemic pseudohypoparathyroidism
    Genotype/Phenotype correlations mild AHO associated to GNAS imprinting defects