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

Neurofibromatosis (NF), also known as von Recklinghausen's disease, is a prevalent genetic disorder--as common as cystic fibrosis and Down's syndrome and twice as prevalent as muscular dystrophy; it occurs in approximately one of 3000 live births. NF often involves the eyes and visual pathways; many NF patients first present early in life because of ocular complaints. But, because mental retardation can be a complication of the disease, such patients are difficult to examine and, as a result, the disease is sometimes not recognized. The purpose of this paper is to provide an overview of the condition along with a case report of an eight year old child with NF.
 ...
PMID:Clinical review of neurofibromatosis. 211 55

Fragile X (fra[X]) syndrome is a newly discovered, but relatively common, genetic disorder with an estimated frequency of 1:1000. Several ocular dysfunctions may be associated with this syndrome, but there are few articles that fully report on these. A review of this genetic disorder is provided, as well as a discussion of a case review of a family with three siblings with fragile X syndrome. Since this disorder is the most common familial cause of mental retardation, is second only to Down's syndrome as a genetic cause for mental retardation, and may play a significant role in learning disabilities, the eye care practitioner should be aware of its importance.
 ...
PMID:Ocular anomalies in fragile X syndrome. 218 24

Neurofibromatosis is a relatively common genetic disorder of the peripheral and central nervous systems. Virtually all organ systems can be involved, either directly or through neural or vascular influences. Children and adults may be affected; management may become difficult due to mental retardation, learning and behavior disorders, and seizures. Because the condition is inherited in autosomal-dominant fashion, one may have to deal with family members who also have these medical, neurologic, and psychologic problems. Benign or malignant tumors may be found in the brain, spinal cord, and somatic and autonomic peripheral nerves. Malignant tumors may involve the airway, the gastrointestinal tract, the genitourinary tract, and the blood vessels. Clinicians caring for these patients must be aware of these protean manifestations in addition to problems involving their own areas of expertise.
 ...
PMID:Neurofibromatosis. Clinical overview. 250 39

1. Tuberous sclerosis is a hereditary disorder characterized by mental retardation, epilepsy, skin papules, and multiple developmental tumors, which involve every organ of the body including the eye. 2. Treatment is directed to control seizures and eliminate surface and systemic lesions by dermabrasion and surgery. 3. Genetic counseling is important for patients, their parents, and their siblings.
 ...
PMID:Tuberous sclerosis (Bourneville's disease). 276 69

Pachyonychia congenita is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of skin and mucous membranes. A thorough literature survey since its first description in 1904 up to 1985 revealed 168 cases of pachyonychia congenita. There were no indications of any sex or ethnic group predilection. Based on this survey the following classification is suggested: type I (56.2% of cases), hyperkeratosis of nails, palmoplantar keratosis, follicular keratosis, and oral leukokeratosis; type II (24.9% of cases), clinical findings of type I plus bullae of palms and soles, palmar and plantar hyperhidrosis, natal or neonatal teeth, and steatocystoma multiplex; type III (11.7% of cases), clinical findings of types I and II plus angular cheilosis, corneal dyskeratosis, and cataracts; and type IV (7.2% of cases), clinical findings of types I, II, and III plus laryngeal lesions, hoarseness, mental retardation, hair anomalies, and alopecia.
 ...
PMID:Pachyonychia congenita. 305 3

Fragile X syndrome, an X-linked genetic condition, is an important genetic cause of mental retardation in males. In addition to mental retardation, hemizygous males with fragile X syndrome appear to have a greater likelihood of displaying behaviors classified under the diagnostic category of pervasive developmental disorder than would be expected on the basis of mental retardation alone. Although the majority of female heterozygotes with the fragile X genetic defect are of normal intelligence, our clinical work with this population and a recent case report have suggested that females with fragile X syndrome have an increased rate of schizophrenia spectrum and affective disorders. In this study, the relationship of the fragile X genetic defect to psychopathology in female heterozygotes is investigated by psychiatric evaluation of 35 obligate female carriers of the fragile X chromosome and a comparison group of 24 fragile X-negative controls. Female fragile X carriers were found to have a greater frequency of psychopathology associated with schizophrenia spectrum diagnoses, particularly schizotypal features. A weaker association between the fragile X genetic defect and chronic affective disorders was detected. The specificity of the neuropsychiatric phenotype occurring in particular genetic conditions such as the fragile X syndrome adds a potentially valuable tool to the study of psychopathology in the general population.
 ...
PMID:Psychiatric disability in female carriers of the fragile X chromosome. 333 8

We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensory neuropathy type II (HMSN-II), one form of Charcot-Marie-Tooth disease. The manner of inheritance, the observation that males are severely affected from infancy, and the frequent association of deafness and/or mental retardation with the neuromuscular disorder are not usual for HMSN-II and suggest that this family may have a previously undescribed genetic disorder. The peripheral neuropathy did not appear to be linked to the Xg blood group. Minor abnormalities of sensory nerve conduction, electromyography, and hearing were separately identified in female relatives in this family, but were not consistent enough to be useful in the identification of carriers for this gene.
 ...
PMID:X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. 385 85

Genetic disorders are more common than is generally appreciated and are the cause of significant morbidity and mortality. A number of these diseases are treatable, and in some cases, their clinical manifestations are preventable by early diagnosis and therapeutic intervention. A brief family history, obtained in a careful and thoughtful manner, can provide useful information to the physician for the diagnosis and management of patients with inherited diseases and, most importantly, can provide a unique opportunity to practice preventive medicine. Patients with known or suspected genetic disorders, including birth defects and mental retardation, deserve appropriate consultation and the opportunity for genetic counseling. This counseling is essential to permit couples at risk to make appropriate, informed reproductive decisions. Specialized diagnostic tests, such as chromosome analysis, are available, and many disorders can be diagnosed prenatally by amniocentesis.
 ...
PMID:The family history and genetic counseling. Tools for preventing and managing inherited disorders. 634 56

The mRNA for phenylalanine hydroxylase (phenylalanine 4-monooxygenase, EC 1.14.16.1) has been purified from total rat liver mRNAs, of which it constitutes less than 0.25%, to greater than 10% purity in a single step by specific polysome immunoprecipitation. The purified mRNA was used for synthesis and cloning of its cDNA. Recombinant colonies containing phenylalanine hydroxylase DNA sequences were identified by differential hybridization, hybrid-selected translation, and blot hybridization analysis. The rat cDNA clone was capable of hybridizing with human phenylalanine hydroxylase mRNA, which will permit the isolation of the corresponding human gene for analysis of phenylketonuria, a hereditary disorder in phenylalanine metabolism that causes permanent mental retardation in humans.
 ...
PMID:Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA. 675 Jun 7

In western society, congenital malformations and genetic disorders have assumed much greater importance as causes of early morbidity and mortality, with the waning of infectious diseases. The personal and societal burden arising as a consequence is an important public health problem. Approximately 25-30% of admissions to major childrens' hospitals in the western hemisphere are for children with one of these disorders. About 3-4% of all births are associated with a major congenital malformation, genetic disorder, or mental retardation. For congenital malformations and mental retardation in particular, the causes may not be discernible in about two-thirds of cases. Clearly defined or suspected genetic origins have been delineated in almost 3,000 catalogued disorders, and many are thought to occur as a consequence of environmental/genetic interaction. The purpose of this paper is to provide some perspective on the influence of environmental factors in the etiology of congenital malformations.
 ...
PMID:Fetal malformations and environmental influences. A perspective. 716 22


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>