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G-protein diseases

Tuesday 11 November 2003

Pathology (G protein diseases)

A. Defective signal termination - signal excessive

- cholera
- adenoma of the pituitary (G-s-alpha)
- adenoma of the thyroid (G-s-alpha)
- adenoma of the adrenals (G-i2-alpha)
- adenoma of the ovary (G-i2-alpha)
- McCune-Albright syndrome (G-s-alpha)

B. Absent or inactive G-alpha - signal deficient

- pseudohypoparathyroidism type Ia (G-s-alpha)
- pseudohypoparathyroidism type Ib (G-s-alpha)
- night blindness (G-t-alpha)

C. Abnormal signal initiation - inadequate or excessive signal

- pertussis (G-i-alpha)
- pseudo hypoparathyroidism type Ia (G-s-alpha)
- testotoxicosis with pseudohypoparathyroidism type Ia (G-s-alpha)
- essential hypertension (beta3)

References

- Farfel Z, Bourne HR, Iiri T. The expanding spectrum of G protein diseases. N Engl J Med. 1999 Apr 1;340(13):1012-20. PMID: 10099144