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)

Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.
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PMID:Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies. 75 22

We report a patient with Prader-Willi syndrome (PWS) complicated by diabetes mellitus. PWS is a genetic disorder characterized by obesity, mental retardation and hypogonadism. Glucose intolerance in this syndrome is thought to be secondary to insulin resistance associated with morbid obesity. Therapy was directed primarily at decreasing insulin resistance and thereby improving glucose intolerance by the administration of troglitazone, which increases insulin sensitivity. Changes in glucose disposal rate assessed by euglycemic hyperinsulinemic clamp test were measured, as well as glucose and insulin responses to a 75 g-OGTT before and after troglitazone therapy. Glucose disposal rate increased by 36% and plasma glucose responses to 75 g-OGTT decreased by about 50% during 12 weeks of troglitazone therapy despite slight weight gain. Thus, troglitazone has beneficial effects on glycemic control by improving insulin sensitivity in patients with PWS complicated by diabetes mellitus.
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PMID:Troglitazone ameliorates insulin resistance in a diabetic patient with Prader-Willi syndrome. 992 52

We report a case of Costello syndrome, which is an uncommon multisystemic condition with cutaneous manifestations on the palms and soles. In the literature there are 29 cases described, all the studies are published in the genetic literature with a few exceptions. We add a further case associated with impaired glucose tolerance. The diagnostic clinical signs are impressive, and highly characteristic. Cutaneous manifestations are: loose skin of the hands and feet "washer woman's hand", hyperkeratosis palmoplantaris, curly or sparse hair, acanthosis nigricans, papillomata nasi. Coarse, progeroid facial features with a bulbous nose, feeding difficulties in infancy, cardiac involvement with cardiomyopathy or conduction defect, and in our case impaired glucose tolerance also presented. Postnatal growth retardation, mental retardation, and a distinctive friendly personality is characteristic. Hyperextensible fingers with broad distal phalanges and joint contractures were observed, and peroneal hypertonicity required treatment by Achilles tendon lengthening. The decreased glucose tolerance is interesting in the view of the acanthosis nigricans. No storage disease and no chromosomal abnormality were observed. Only in one case is a balanced translocation described in the literature.
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PMID:Costello syndrome with decreased glucose tolerance. 1052 30

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive disease (formerly grouped with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly or polydactyly), retinal dystrophy or pigmentary retinopathy, hypogonadism or hypogenitalism (limited to male patients) and kidney structural abnormalities or functional impairment. The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. This study focuses on three cases of familial BBS--two sisters and one brother (66, 64 and 51 years of age, respectively)--with the main cardinal findings of the disease plus a classic 'metabolic syndrome' (characterized by abdominal obesity, atherogenic dyslipidaemia, raised blood pressure, insulin resistance with or without glucose intolerance, and prothrombotic risk and proinflammatory states). One female patient (not affected by reproductive dysfunction) had three healthy offspring, while the other two patients were unmarried. Another severely affected brother died at 70 years of age; two other brothers are lean but affected by nephropathy, retinopathy, slight mental retardation, polydactyly, hypertension and thrombotic diseases, and had healthy offspring. BBS is a rather rare but severe syndrome that is often mis- or undiagnosed. Ophthalmologists, endocrinologists and nephrologists should be aware of BBS because of its adverse prognosis--early onset of blindness, associated findings of metabolic syndrome and increased vascular risk, and severe renal impairment (the most frequent cause of reduced survival and death early in life).
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PMID:A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty. 1212 Apr 19

Costello syndrome is characterized by mental retardation, loose skin, coarse facies, skeletal abnormalities, cardiovascular abnormalities (congenital heart defects, cardiomyopathy, rhythm disturbances), and predisposition to neoplasia. Endocrine abnormalities including growth hormone deficiency, adrenal insufficiency, glucose intolerance, parathyroid adenoma with hyperprolactinemia and hypoglycemia have been described. Hypoglycemia has been documented due to growth hormone and cortisol deficiency. We report on two patients with Costello syndrome and persistent hyperinsulinemic hypoglycemia and review the endocrine manifestations of Costello syndrome. Both patients required diazoxide therapy to stop the unregulated insulin secretion and maintain normoglycemia. The mechanism of persistent hyperinsulinism in patients with Costello syndrome is unclear.
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PMID:Costello syndrome and hyperinsulinemic hypoglycemia. 1627 7

Maturity-onset diabetes of the young type 2 (MODY2) is a form of monogenic diabetes, characterized by mild fasting hyperglycemia. MODY2 is caused by heterozygous mutations in the GCK gene that encodes the glucokinase enzyme. We describe the clinical features and the underlying genetic defect of MODY2 in a patient with atypical Greig cephalopolysyndactyly syndrome (GCPS). The patient presented with the limb formation and the craniofacial developmental abnormalities typical to GCPS, in addition to mental retardation and epilepsy (assigned as atypical syndrome). Fasting hyperglycemia in the diabetic range, impaired glucose tolerance, and lack of diabetes autoantibodies were compatible with MODY2. In order to delineate the genetic aberrations relevant both to MODY2 and Greig syndrome in this patient, we performed cytogenetic analysis, real-time PCR of the GCK gene, and comparative genomic hybridization (CGH) array. Cytogenetic study has shown a microscopic detectable deletion in the 7p13-15 chromosomal region. Real-time PCR demonstrated a deletion of the GCK gene in the patient but not her parents, and CGH array revealed a deleted region of approximately 12 Mb in the 7p13-15 region. This deleted region included GLI3 and GCK genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes. Our patient manifests a unique form of MODY2, where GCK gene deletion is part of a large deleted segment in the 7p13-15 chromosomal region.
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PMID:MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. 2204 88