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)

Allgrove syndrome (AS), also known as triple-A syndrome, is a rare cause of congenital adrenal insufficiency due to adrenocorticotropic hormone resistance. It is inherited in an autosomal recessive manner and is associated with achalasia, alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy, deafness, and mental retardation. Although the etiology of AS remains unknown, recently the disease was linked to a chromosome 12 locus (corresponding cytogenetic band 12q13) in consanguineous families of European ancestry. In the present study, we investigated four nonconsanguineous families with documented inheritance of AS for linkage with the reported 12q13 locus. Eighteen subjects were studied, of whom five were affected by AS. DNA was extracted from peripheral blood lymphocytes and amplified by standard methods with primers from polymorphic sequence tagged sites (STSs) located in the chromosome 12q13 region. Two-point logarithm-of-odds (LOD) score analysis revealed a maximum LOD score of 1.7 for STSs D12S361 and D12S368 without any recombinants [recombination distance (theta) = 0]. Multipoint linkage analysis defined an area of estimated genetic distance less than 0.5 cM (approximately 500,000 bp) between STSs D12S361 and D12S359 that is most likely to contain the AS gene(s). We conclude that, in Puerto Rican families, AS segregates with polymorphic markers that have been mapped to the chromosome 12q13 locus, revealing the absence of heterogeneity for this syndrome in a genetically distinct population. Candidate genes in the region include those that code for several of the keratin proteins, transcription factors, and others.
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PMID:Segregation of Allgrove (triple-A) syndrome in Puerto Rican kindreds with chromosome 12 (12q13) polymorphic markers. 928 47

Epidermal inclusion cyst is one of the common benign soft tissue tumors, and it can be easily confirmed and treated by surgical excision. We experienced a patient who had multiple masses on the face and scalp region, and the masses had been misdiagnosed as neurofibromatosis because of accompanying mental retardation. We would like to introduce a case of clinical diagnosis error caused by the lack of radiologic evaluation and pathologic confirmation. A 27-year-old male patient visited with multiple masses, with a length of approximately 1 to 10 cm on the face and scalp region. These mass have developed since childhood without known etiology, and there has been no histologic examination or surgical excision done in the past. The patient's history of seizure disorder and mental retardation led the primary clinician to diagnose it as neurofibromatosis in the initial stage, and therefore, the clinician gave an advice on the possibility of frequent recurrence to the patient. As the masses increased in size, the patient came to our hospital after all. We found that the masses were soft and mobile through the physical examination, and magnetic resonance imaging showed evidence of epidermal inclusion cyst, which is distinguished from neurofibromatosis. Based on physical examination and magnetic resonance imaging, we performed total excision and biopsies. On the histologic examination, it was diagnosed as an epidermal inclusion cyst showing keratotic material internally, and the cyst wall was composed of lamellate keratin. The follow-up period was 12 months, and a recurrence has not occurred. The wound was healed without any specific complication, and both the patient and the guardian were satisfied with the physical enhancement. We have observed a misdiagnosed case that was misconceived by the situation, accompanying mental retardation. Due to this misconception, any surgical treatment was not performed at all, and the symptoms eventually worsened as multiple huge epidermal inclusion cysts. We present this case with a brief review of literature.
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PMID:Multiple huge epidermal inclusion cysts mistaken as neurofibromatosis. 1909 81

A 30-year-old man presented with lesions on his oral mucosa and soles. There were no similar complaints in his family members. The dermatological examination revealed follicular hyperkeratosis on his trunk and upper extremities and flesh-colored, firm cystic lesions on his axillae. He had focal, painful, hyperkeratotic areas sited particularly on both his soles and palms. In addition to these, leukokeratosis and ulcerative areas on buccal, labial mucosa, tongue, and at corners of the mouth, and complete loss of teeth was observed. The proximal layering was revealed on all of his nails. The laboratory investigations produced normal results except the deficiency of immunoglobulin A. The psychiatric examination revealed mild mental retardation. Keratin gene (KRT6a, KRT6b, KRT16, and KRT17) mutations for pachyonychia congenita were negative. He got removable dental prosthesis because of inadequate alimentation. Squamous cell cancer developed on lower lip mucosa during follow-up. We present an individual who had different nail dystrophy, epidermal cysts, mental retardation, blepharitis, complete loss of teeth, and negative keratin gene mutations for pachyonychia congenita and developed squamous cell cancer on the oral leukokeratosis lesions. We think that the present case may be an unusual new type of pachyonychia congenita.
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PMID:A case of pachyonychia congenita with unusual manifestations: an unusual type or a new syndrome? 2571 81