Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Endocrine function was evaluated in a 38-year-old man who had patchy asymmetrical acral hypertrophy and giantism. The history and clinical manifestations were consistent with previously described cases of the Klippel-Trenaunay syndrome. Pituitary and peripheral hormone concentrations were generally elevated, but his endocrine status appeared normal by clinical evaluation. Of particular interest were elevated growth hormone and somatomedin-A concentrations and responses to provocative tests. These findings suggest that this patient had abnormal cell receptor pathophysiology as the cause of the asymmetrical acral hypertrophy and giantism, which often occurred in the same anatomical site.
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PMID:Endocrine function in a patient with asymmetrical acral hypertrophy and giantism: a possible variant of the Kippel-Trenaunay syndrome. 21 75

In 1979 Cohen et Hayden and in 1983 Wiedemann et al. delineated a syndrome consisting of partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Hitherto the literature pertaining to this syndrome consists of somewhat more than 100 cases of which some, that have been described previously or subsequently under other headings, were rediagnosed as being Proteus syndromes. Of these, more than half show vascular anomalies closely resembling those observed in the Klippel-Trenaunay syndrome, but in the Proteus syndrome appear to be more haphazardly distributed over the integument. We report 3 pediatric patients with the Proteus syndrome, all showing cutaneous angiodysplasias. These patients were initially diagnosed as suffering from "severe or atypical Klippel-Trenaunay syndrome". In one of these, cardiac tumors were observed soon after birth which subsequently showed spontaneous involution and were therefore considered to be rhabdomyomas. In the Proteus syndrome cardiac pathology is rare, and cardiac tumors have not been described previously. Moreover, we observed umbilical hernia in two of our patients, a feature which has hitherto not been reported in patients with the Proteus syndrome. In all our patients a broad thoracic cage resembling a "body-builders chest", asymmetrical and disproportional macrodactyly and broad, flat feet were conspicuous. These broad, flat feet with macrodactyly and large spaces between the first and second digits were designed by the parents of one of our patient as "chimpanzee's feet". Macrodactyly, "chimp's" feet and a broad thoracic cage are considered by us to be clinical hallmarks of the Proteus syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Proteus syndrome. Expansion of the phenotype. Apropos of 3 pediatric cases]. 133 4

The concept of autosomal lethal genes surviving only in a mosaic state was proposed by Happle to explain the genetic basis of several syndromes characterized by (almost always) sporadic occurrence, distribution of lesions in a scattered or asymmetrical pattern, variable extent of involvement, lack of diffuse involvement of entire organs, and equal sex ratio. The mosaic may either arise from a gametic half-chromatid mutation or from an early postzygotic mutation. The purpose of this article is to review current knowledge of the genetics and cutaneous manifestations of some of the birth defects to which the lethal gene concept is thought to apply: the Schimmelpenning (Feuerstein-Mims) syndrome, Proteus syndrome, encephalocraniocutaneous lipomatosis, Sturge-Weber and Klippel-Trenaunay syndrome, cutis marmorata teleangiectatica congenita (van Lohuizen syndrome), and neurocutaneous melanosis.
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PMID:Cutaneous mosaicism of lethal mutations. 1039 56