Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Crusted scabies, an unusual clinical variant of human scabies mite infestation, is usually reported in cases of gross debility, mental deficiency, or immunosuppression. We report here the occurrence of crusted scabies in a 40-year-old man with acquired selective IgA deficiency suspected to be caused by long-term medication with phenytoin for epilepsy.
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PMID:Crusted scabies in acquired selective IgA deficiency. 167 32

A 61-year-old woman presented with circumscribed eczematous eruptions with maceration, erosions and patchy infiltration in the perineum and inframammary regions. A diagnosis of eosinophilic granuloma (cutaneous histiocytosis X) was established. T lymphocytes from a skin biopsy were grown in vitro for three weeks after which chromosomal studies revealed a break or gap at chromosome 16q22 in 15% of the lymphocytes. The addition of alpha-interferon increased the percentage of affected cells to 28%. T lymphocytes from the patient's blood did not show the defect. The biological significance of the chromosomal defect is uncertain. It has been described before in healthy persons, malignant lymphoma, cold urticaria and IgA deficiency, and mental retardation. It has not been seen in patients with eosinophilic granuloma.
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PMID:Eosinophilic granuloma associated with a 16q22 chromosomal defect of cutaneous T lymphocytes. 608 32

The authors report one case of Moya-Moya disease in a 3 month-old infant, who developed microcephaly, mental retardation and tetraparesis. The appearance in the following months of a Raynaud's phenomenon in the upper limbs and of IgA deficiency may be of interest for the understanding of the disease.
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PMID:[Moya-moya disease. Raynaud's phenomenon. IgA deficiency]. 716 20

This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.
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PMID:Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. 1750 1