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Dwarfism, Pituitary

General

Disease Name
Dwarfism, Pituitary
OMIA
307
Gene Name
LHX3
Mutation
7bp delete intron 5, affects splice site
OMIM
221750
Test Type
Genetic Disease/Disorder
Details
Pituitary dwarfism is caused by a combined pituitary hormone deficiency. The effects include underdeveloped kidneys (and often renal failure), underactive thyroid glands, and sterility. The side effects are often noticed in the first few months as short legs, long body, a short jaw, bulging eyes, and skin disorders including baldness and bacterial skin infections. Age of symptoms onset apparent at 8-16 weeks. Forms of this disease can also be non-genetic.
Details 2
Pituitary dwarfism is caused by a combined pituitary hormone deficiency. The effects include underdeveloped kidneys (and often renal failure), underactive thyroid glands, and sterility. The side effects are often noticed in the first few months as short legs, long body, a short jaw, bulging eyes, and skin disorders including baldness and bacterial skin infections. Age of symptoms onset apparent at 8-16 weeks. Forms of this disease can also be non-genetic.
Published
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference: 25273400. DOI: 10.1111/jvim.12448.
Published 2
Tsai, K.L., Noorai, R.E., Starr-Moss, A.N., Quignon, P., Rinz, C.J., Ostrander, E.A., Steiner, J.M., Murphy, K.E., Clark, L.A. : Genome-wide association studies for multiple diseases of the German Shepherd Dog. Mamm Genome 23:203-11, 2012. Pubmed reference: 22105877. DOI: 10.1007/s00335-011-9376-9.
Published 3
Voorbij, A.M., Leegwater, P.A., Kooistra, H.S. : Pituitary dwarfism in Saarloos and Czechoslovakian wolfdogs is associated with a mutation in LHX3. J Vet Intern Med 28:1770-4, 2014. Pubmed reference: 25273400. DOI: 10.1111/jvim.12448.
Body/System/Process
Endocrine
Inheritance
AR
Gene Name Text
LIM homeobox 3
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