Details of GALE gene in Homo sapiens
Disease |
Disease |
OMIM id |
Epimerase-deficiency galactosemia (EDG) [MIM:230350]: Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development. Note=The disease is caused by mutations affecting the gene represented in this entry. |
230350 |
Phenotypes
Abdominal symptom, Abnormality of amino acid metabolism, Abnormality of body weight, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of carboxylic acid metabolism, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the central nervous system, Abnormality of the ear, Abnormality of the genitourinary system, Abnormality of the immune system, Abnormality of the inner ear, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skin, Abnormality of the spleen, Abnormality of the urinary system, Abnormality of the urinary system physiology, Abnormality of urine homeostasis, Abnormal muscle tone, Aciduria, All, Aminoaciduria, Autosomal recessive inheritance, Cholestasis, Cognitive impairment, Decreased body weight, Delayed gross motor development, Delayed speech and language development, Dermatological manifestations of systemic disorders, Failure to thrive, Functional abnormality of the inner ear, Galactose intolerance, Generalized abnormality of skin, Global developmental delay, Growth abnormality, Hearing abnormality, Hearing impairment, Hepatomegaly, Impairment of galactose metabolism, Jaundice, Mode of inheritance, Motor delay, Muscular hypotonia, Nausea and vomiting, Phenotypic abnormality, Sensorineural hearing impairment, Splenomegaly, Visceromegaly, Vomiting.
Orthologs in other species |
M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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