Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital malformations and inherited disorders constitute a substantial proportion of the afflictions seen in sheep and goats. Of these, malformations tend to be similar in both species, whereas the genetic diseases encountered to date, with the exception of a few, are different. Of the 28 genetic diseases of sheep and goats described in this review, 60% and 62.5%, respectively, are monogenic disorders. For a majority of the monogenic recessive disorders encountered in these species, the carrier state is not detectable at present, whereas in others, in which a biochemical lesion is known (dermatosparaxis, erythrocyte glutathione deficiency, globoid cell leukodystrophy and glycogen storage disease), the carrier state is detectable with the aid of enzyme and surface protein markers. The latter group and the dominant disorders (anury, cataract, glomerulonephritis, and lethal grey in sheep; gynecomastia and anotia-microtia complex in goats) are easy to eliminate through selective breeding. The polygenic disorders (entropion, epidermolysis bullosa, hereditary chondrodysplasia, and muscular dystrophy of sheep, and udder problems in goats) are more difficult to eradicate, because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration to create a health crisis in some, whereas others, which are only short of a few of these mutant genes, might go totally unaffected and therefore undetected. Chromosome defects of the structural nature (translocations) seen in sheep and goats generally create meiotic disturbances, which in a majority of cases lead to subfertility, whereas sex chromosome aneuploids are generally sterile.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Genetic diseases of sheep and goats. 224 74

An unusual combination of congenital malformations in a 16-year-old emotionally disturbed man is described. The anomalies included severe congenital bilateral leg lymphedema, bilateral gynecomastia, unilateral cataract, and malformed external genitalia. Genetic and hormonal investigations were unremarkable. Multiple concomitant operations (vascular and plastic surgeons) to correct the deformities and restore physical well-being and self-esteem were undertaken.
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PMID:Combined surgical correction of bilateral congenital lower limb lymphedema with associated anomalies. 966 70

In a 33-year-old man, mitochondriopathy was diagnosed upon short stature, auditory impairment, gynaecomastia, hypogonadism, vertical ophthalmoplegia, cerebral atrophy, leucencephalopathy, cataract, hypertrabeculated left ventricle, hypothyroidism, diabetes mellitus, glomerulonephritis necessitating kidney transplantation, general wasting, polyneuropathy, abnormally high lactate levels on exercise, partially reduced cytochrome-c oxidase staining and abnormally structured mitochondria on muscle biopsy. Mitochondrial DNA (mtDNA) analysis revealed 1 novel (A15662G) and 3 known mtDNA transition(s) (T3398C, T4216C, G15812A) affecting the cytb and ND1 gene, respectively. Three of the patient's transitions were also detected in blood leukocytes of the patient's maternal grandmother, mother and brother. Mutant mtDNA was heteroplasmic at >75% in the patient's skeletal muscle.
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PMID:Complex mitochondriopathy associated with 4 mtDNA transitions. 1089 93