Caprine beta-mannosidosis: phenotypic features. 1986

K Kumar, and M Z Jones, and J G Cunningham, and J A Kelley, and K L Lovell

The clinical features of caprine beta-mannosidosis were evaluated in 10 newborn goats, one stillborn goat and one goat fetus. The phenotypic abnormalities observed in all 10 live affected animals included an inability to rise from a recumbent position, moderate to marked intention tremor, eye movements resembling pendular nystagmus, clinical deafness, bilateral Horner's syndrome, carpal contractures, pastern joint hyperextension, thickened skin and to a varying degree, a dome-shaped skull. Subjective evaluation suggested that most animals had a decreased muscle mass. Together, these characteristics represent a common phenotype which is expressed at birth in caprine beta-mannosidosis.

UI MeSH Term Description Entries
D008297 Male Males
D008361 Mannosidases Glycoside hydrolases that catalyze the hydrolysis of alpha or beta linked MANNOSE. Mannosidase
D008363 alpha-Mannosidosis An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. Mannosidosis, alpha B, Lysosomal,Alpha-D-Mannosidosis,Alpha-Mannosidase B Deficiency,Alpha-Mannosidosis, Type I,Lysosomal Alpha B Mannosidosis,Lysosomal alpha-D-Mannosidase Deficiency,Mannosidosis, alpha B Lysosomal,alpha Mannosidase B Deficiency,alpha-Mannosidase Deficiency,Deficiencies, Lysosomal alpha-D-Mannosidase,Deficiencies, alpha-Mannosidase,Deficiency, Lysosomal alpha-D-Mannosidase,Deficiency, alpha-Mannosidase,Lysosomal alpha D Mannosidase Deficiency,Lysosomal alpha-D-Mannosidase Deficiencies,alpha Mannosidase Deficiency,alpha Mannosidosis,alpha-D-Mannosidase Deficiencies, Lysosomal,alpha-D-Mannosidase Deficiency, Lysosomal,alpha-Mannosidase Deficiencies,alpha-Mannosidoses
D009461 Neurologic Manifestations Clinical signs and symptoms caused by nervous system injury or dysfunction. Neurologic Deficits,Neurologic Signs and Symptoms,Focal Neurologic Deficits,Manifestations, Neurologic,Manifestations, Neurological,Neurologic Dysfunction,Neurologic Findings,Neurologic Manifestation,Neurologic Signs,Neurologic Symptoms,Neurological Manifestations,Deficit, Focal Neurologic,Deficit, Neurologic,Deficits, Focal Neurologic,Deficits, Neurologic,Dysfunction, Neurologic,Dysfunctions, Neurologic,Finding, Neurologic,Findings, Neurologic,Focal Neurologic Deficit,Manifestation, Neurologic,Manifestation, Neurological,Neurologic Deficit,Neurologic Deficit, Focal,Neurologic Deficits, Focal,Neurologic Dysfunctions,Neurologic Finding,Neurologic Sign,Neurologic Symptom,Neurological Manifestation,Sign, Neurologic,Signs, Neurologic,Symptom, Neurologic,Symptoms, Neurologic
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011247 Pregnancy The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. Gestation,Pregnancies
D005260 Female Females
D006041 Goats Any of numerous agile, hollow-horned RUMINANTS of the genus Capra, in the family Bovidae, closely related to the SHEEP. Capra,Capras,Goat
D006332 Cardiomegaly Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES. Cardiac Hypertrophy,Enlarged Heart,Heart Hypertrophy,Heart Enlargement,Cardiac Hypertrophies,Enlargement, Heart,Heart Hypertrophies,Heart, Enlarged,Hypertrophies, Cardiac,Hypertrophies, Heart,Hypertrophy, Cardiac,Hypertrophy, Heart
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia

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