Pseudopseudohypoparathyroidism
What's New
Last Posted: Feb 18, 2023
- Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the ?6 strand/?5 helix of Gs?, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families.
Ohata Yasuhisa, et al. Bone reports 2022 0 101637 - Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLas in fetal development.
Richard Nicolas, et al. The Journal of clinical endocrinology and metabolism 2013 9 (9) E1549-56 - No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.
Izzi Benedetta, et al. Journal of human genetics 2012 4 (4) 277-9 - Pseudopseudohypoparathyroidism
From NCATS Genetic and Rare Diseases Information Center - Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.
De Sanctis Luisa, et al. Pediatric research 2003 5 (5) 749-55
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
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- Familial Mediterranean Fever
- Fragile X Syndrome
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- Glomerulonephritis
- Graves Disease
- Hemophilia
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- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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