Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progressive cardiomyopathic lentiginosis was first described in 1972 by Polani and Moynahan. It is characterised by pigmentation of the skin (multiple symmetrical lentigines), hypertrophic obstructive cardiomyopathy and retarded growth. There may also be mental retardation. All characteristics of the syndrome were present in a 46-year-old woman. In addition there were also other features: lentigo developed at only 35 years of age, there was hypertelorism, thoracic kyphosis, and intermittent severe depression. Cyclic adenosine monophosphate in plasma was raised to 90.5 nmol/1.
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PMID:[Hypertrophic obstructive cardiomyopathy and lentiginosis (author's transl)]. 19 83

Over three generations, several members of a family suffered from cardiomyopathy exhibiting, primarily, rhythm and conduction disturbances and, eventually, congestive heart failure. Certain serum enzymes (SGOT, SGPT, LDH) were elevated. The clinical examination indicated a progressive deterioration with increasing age of the patients, a more serious course in the male members of the family, and the frequent association of mental retardation.
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PMID:Familial cardiomyopathy. 97 27

The Kearns-Sayre syndrome is identified by the triad of progressive external ophthalmoplegia, atypical pigmentary retinopathy, and conduction disturbances. In addition, clinical manifestations may include mental retardation, sensorineural deafness, cerebellar ataxia, and facial and peripheral muscle weakness. Morphologic alterations in skeletal muscle may be characterized by ragged-red fibers. Two patients with Kearns-Sayre syndrome underwent electrophysiological examination. The first patient had a first and second degree AV block (Mobitz type II), right bundle branch block, and left axis deviation. The His-bundle electrogram showed a prolonged HV interval as a hint at an intraventricular conduction delay. The signal-averaging technique and endocardial mapping revealed ventricular after-depolarizations. The second patient had an unsuspicious ECG, recurrent atrial tachycardias, normal atrial and ventricular conduction, and after-depolarizations in endocardial mapping. Two months later he showed a second degree AV block combined with clinical symptoms. Pacemakers were implanted in both patients. Beside disturbances of the conduction system in both patients signs of electrical instability of the myocardium were found. In this way the Kearns-Sayre syndrome may be seen as a form of cardiomyopathy.
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PMID:[Electrophysiologic findings in patients with Kearns-Sayre syndrome--report on 2 cases]. 240 85

The association of microcephaly, mental retardation, cataracts, and hypogonadism is described in sibs (brother and sister) of consanguineous parents. These features are consistent with a diagnosis of Martsolf's syndrome. In addition, one sib had a cardiomyopathy while the other had cardiac failure.
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PMID:Microcephaly, mental retardation, cataracts, and hypogonadism in sibs: Martsolf's syndrome. 273 2

Two patients with mitochondrial encephalomyopathy (MEP) serve to emphasize the variability of this group of diseases. Cerebral insults, mitochondrial cardiopathy, relapsing ileus, cerebral angioma, ataxia, and myoclonic seizures characterized the first case of an adult man with similar diseases in his family, interpreted as transitional form between mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and myoclonus epilepsy associated with ragged red fibers (MERRF). The second patient, a floppy infant with cardiomyopathy and myoclonism, statomotoric and mental retardation showed combined defects in mitochondrial respiratory chain at NADH-CoQ reductase and cytochrome c oxidase and a deficiency of carnitine. In both patients neuropathologically criteria of Leigh's syndrome could be demonstrated in the cerebral cortex, in case 2 also clinically. The classificatory problems of the relationships between KSS, MELAS, MERRF, Leigh's as well as Alpers' syndromes are discussed.
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PMID:Mitochondrial myopathies with necrotizing encephalopathy of the Leigh type. 322 73

The Coffin-Lowry is characterized by mental retardation, characteristic facies and hands, and skeletal changes. Discovery of two others brothers presenting vertebral curvature and suffering from the same syndrome led to a familial investigation which allowed the making of an inventory of six members affected in this family. Only subjects with characteristic fingers were included because according to Lowry this anomaly is necessary to assert the Coffin-Lowry syndrome. The series is quite interesting because this is the greatest of Lowry with five cases. The authors emphasize the importance of a detailed preoperative cardiac exploration to search for cardiomyopathy the existence of which in Coffin-Lowry syndrome was never noted before.
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PMID:[Fatal cardiac complications in a child operated on for severe scoliosis with a Coffin-Lowry syndrome. Apropos of a case]. 339 37

Precocious puberty (PP) and intellectual handicap were present in 3 males in 2 generations of a Western Australian family. The 2 obligate carrier women were of normal intelligence but were grossly obese; one died of a cardiomyopathy at 55 years. The youngest affected male was found to have PP at 3 years. His mother was then pregnant, and because of her family history, was aware of the risk to have an affected male. Her mother had given birth to 2 sons with PP. By school age both of these males were mildly intellectually handicapped and this later became moderate. Apart from these 3 affected males, the 2 carriers lost 6 of their other 8 offspring, leaving only one normal woman and her unaffected son. The Fragile X test was negative on all males. This appears to be a new X-linked mental retardation syndrome, and a condition different from true idiopathic PP, or familial PP affecting both sexes, or PP with X-linked dominant inheritance.
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PMID:X-linked intellectual handicap and precocious puberty with obesity in carrier females. 395 42

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85-fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.
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PMID:Duchenne-like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance. 404 97

Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.
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PMID:Genital anomaly and cardiomyopathy: a new syndrome. 649 50

Eleven patients, 10 male, with classic hypertrophic obstructive cardiomyopathy and lentiginosis are described. Physical examination showed differences from the few previously reported cases in that (1) this condition was not confined to children; (2) mental retardation, sensorineural deafness and gonadal and somatic infantilism were either rare or absent; and (3) detailed family studies provided no evidence that this condition was inherited. Nine patients underwent cardiac catheterization and left ventricular angiography; all had left ventricular outflow obstruction and three had concomitant right ventricular outflow obstruction with a pressure gradient in excess of 100 mm Hg. Ten of the 11 patients were severely symptomatic, and 7, each with a left ventricular pressure gradient of more than 70 mm Hg, underwent successful septal myotomy/myectomy that resulted in marked symptomatic improvement that was maintained after long-term follow-up.
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PMID:Hypertrophic obstructive cardiomyopathy and lentiginosis: a little known neural ectodermal syndrome. 719 5


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