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)

Isolated aniridia segregated as an autosomal dominant trait in a family with 11 affected members spanning five generations. Four of the eight individuals studied had aniridia associated with glaucoma and cataracts. Cytogenetic studies revealed an apparently balanced reciprocal translocation between chromosomes 11 and 22 [t(11;22)(p13;q12.2)], while four unaffected relatives had normal karyotypes. There is no evidence of Wilms tumor or genitourinary abnormalities in any members of the family. Restriction enzyme analysis of the human catalase gene revealed no abnormalities in the individuals with the translocation. A summary of phenotypic abnormalities in 61 cases associated with aniridia is presented, as well as a comparison of breakpoints in 44 cases of 11p deletion. These data indicate that single breaks at 11p13 are associated with isolated aniridia, while deletion of 11p13 results in aniridia combined with Wilms tumor, genitourinary abnormalities, and/or mental retardation.
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PMID:Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. 375 37

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic paresis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.
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PMID:Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome? 380 60

The case of a 21-year-old woman who was affected by both encephalofacial angiomatosis (Sturge-Weber syndrome) and neurocutaneous melanosis is reported. Her signs and symptoms consisted of an interesting overlap of the characteristics of these two neurocutaneous syndromes with glaucoma, hydrocephalus, epilepsy, mental retardation and vascular and melanotic skin lesions observed throughout her course. The clinical diagnosis presented considerable difficulties. The simultaneous occurrence of these two disorders has not been previously reported and this is the first reported case where the cutaneous lesions and their histology, the neuropathology and the clinical features of both disorders is described in one individual.
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PMID:The coincidence of neurocutaneous melanosis and encephalofacial angiomatosis. 381 35

We report on an 11 1/2-year-old boy with neurofibromatosis and the fragile-X syndrome. Clinical manifestation of neurofibromatosis include multiple cafe-au-lait spots, axillary freckles, congenital glaucoma, relative macrocephaly, radiologic findings of overtubulation of the long bones, and precocious puberty. The fragile-X syndrome manifests itself as mental retardation with behavior problems, macro-orchidism, and specific cytogenetic findings. The boy has normal serum hormone levels, but a greatly elevated FSH on a first morning void, which contains the nocturnally secreted gonadotropins. This seems to be the first reported occurrence of the fragile-X syndrome with another inherited disease.
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PMID:Neurofibromatosis and fragile-X syndrome in the same patient. 393 45

A 20-month-old male patient was referred because of severe growth and mental retardation, bilateral glaucoma, hypospadias, and cryptorchidism. Karyotyping revealed a de novo complex three-chromosome rearrangement as well as deletion of band 11p13:46,XY,t(4;7;15)(q212;p14;q26)del(11)(p13p14). Trabeculectomia revealed bilateral aniridia. Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma. The kidneys were normal. A deficiency in catalase (CAT) activity allowed the regional assignment of the CAT gene to band 11p13.
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PMID:Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. 611 32

The Sturge-Weber syndrome is characterized by the presence of a leptomeningeal hemangioma variably associated with a facial nevus flammeus, seizure disorder, mental retardation, hemiparesis, homonymous hemianopsia, glaucoma, and other signs and symptoms. The relationship between the cutaneous manifestations and the other features of this disorder was studied in 35 patients. We observed that all patients with the facial nevus flammeus had involvement of the upper eye lid or forehead. Bilateral cutaneous involvement was common and when present, was often associated with extensive lesions of the trunk and extremities. The distribution of the cutaneous lesions appeared to be unrelated to that of the trigeminal nerve. A subgroup of patients, the syndrome's "forme fruste," were identified. There appeared to be no relationship between the presence and extent of the cutaneous lesions and the observed seizure disorder, difficulty of seizure control, intellectual deficit, hemiparesis, homonymous hemianopsia, and intracranial calcification. Notably, the "forme fruste" patients appeared to be spared from glaucomatous involvement and from choroidal hemangioma. We will also discuss other aspects of this syndrome.
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PMID:The cutaneous manifestations of Sturge-Weber syndrome. 622 7

A survey carried out to detect children with aniridia/Wilms's tumour syndrome identified 8 living and 3 dead children. The incidence of aniridia was found to be 1 in 43 among Wilms's tumour patients in the UK. The clinical features included complete bilaterial aniridia, cataracts, glaucoma, mental retardation, hyperkinesis, hypospadias, and undescended testes. A high incidence of bilateral tumours (36%), male sex, presentation at a young age, and advanced maternal age appeared to be associated with the syndrome. The 8 living children each had a deletion on the short arm of chromosome 11. In contrast, although 2 patients with sporadic aniridia without Wilms's tumour had other malformations, neither had genitourinary anomalies, and the only additional problems in patients with familial aniridia were cataracts. Among 49 children with Wilms's tumour without aniridia ony one had bilateral tumours. No chromosome abnormalities were detected in patients with familial aniridia, nor were they detected in patients with Wilms's tumour without aniridia or in those with sporadic aniridia without Wilms's tumour. While many infants with the Wilms's tumour/aniridia syndrome are clinically diagnosable at birth, chromosome analysis using the elongated chromosome method is especially valuable to confirm the diagnosis in girls with sporadic aniridia and in boys who lack the genitourinary malformations. The presence of an 11p13 deletion confirms the diagnosis of the Wilms's tumour/aniridia syndrome and indicates a very high risk for the development of Wilms's tumour.
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PMID:Wilms's tumour and aniridia: clinical and cytogenetic features. 628 58

Retrospectively studied were 91 patients, 14 years of age or less, who had 152 penetrating keratoplasties in 107 eyes, with an average follow-up of 30.1 months. Survival analysis showed the probability of obtaining a clear graft at one year to be 60 +/- 8% in 45 eyes with congenital opacities, 70 +/- 8% in 31 eyes with opacities from trauma and 73 +/- 8% in 31 eyes with acquired nontraumatic opacities. Most failures occurred during the first postoperative year and were characterized by the gradual loss of graft clarity from undetermined cause. Twenty-nine percent (10) of the 34 eyes with congenital corneal opacities in which vision could be measured had a most recent visual acuity better than 6/120 (20/400). Irreversible amblyopia, glaucoma, other structural abnormalities of the anterior segment and mental retardation complicated visual rehabilitation in the congenital group. In the post-traumatic group, vision was better than 6/120 (20/400) in 45% (13) of 29 eyes, being limited by vitreoretinal pathology, fibrous ingrowth, and optic nerve damage from glaucoma. Visual acuity in the acquired, nontraumatic group was better than 6/120 (20/400) in 67% (20) of 30 eyes. The percentage of patients achieving 6/12 (20/40) or better in the congenital, post-traumatic, and nontraumatic groups were 3% (1/34), 17% (5/29), and 47% (14/30), respectively. In the congenital group, only patients with posterior polymorphous dystrophy obtained a visual acuity of 6/30 (20/100) or better. Preoperative vascularization of the cornea, persistent epithelial defects, and performance of lensectomy-vitrectomy were factors most highly correlated with poor graft survival.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Penetrating keratoplasty in children. 639 81

We report a fifty three year old man who presented with progressive visual loss. Investigation disclosed a giant aneurysm with optic nerve compression, which was successfully treated surgically. The patient had typical skin lesions of tuberous sclerosis, but did not suffer from a seizure disorder or mental retardation. In the past he had had an enucleation for glaucoma secondary to a retinal phakoma. Cerebral aneurysms are discussed in relation to the tuberous sclerosis disease process. After review of the literature, we propose that the aneurysms are secondary to dysplastic change in the vessel walls, this is in keeping with the abnormal tissue proliferations in this disease.
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PMID:Visual loss secondary to a giant aneurysm in a patient with tuberous sclerosis. 651 31

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.
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PMID:De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2). 669 86


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