Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary nephrogenic diabetes insipidus is a rare disease. We describe here three brothers with this disease from a big family consisting of 10 siblings. The case is undoubtedly X-linked because the sufferers are only boys, one of them with a different father. The illness was noticed rather late, namely, at the ages of approximately 7, 6 and 5 years. Possibly, this is a particular characteristic of this family, because the disease is usually diagnosed before the age of two years. In the oldest brother (at present 15 years old) epicystotomy was performed at the time of diagnosis because of polyuria, hydroureteronephrosis and bladder hypotonia; the intervention caused a urinary tract infection leading to chronic pyelonephritis and renal scarring. No urologic intervention was necessary in the younger brothers, because their illness was noticed and treatment started somewhat earlier. This case shows that polydipsia and polyuria should always be assessed properly to disclose their causes.
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PMID:[Nephrogenic diabetes insipidus in a large family]. 1652 30

Su Partial trisomy 3p and partial monosomy 11q are rare chromosomal disorders with a deletion of part of chromosome 11 combined with a duplication of part of chromosome 3. These are usually inherited from a parent who carries a balanced translocation involving chromosome 3, which can result in the unbalanced translocation trisomy 3p in a child. In this paper, we report a newborn who has dysmorphic facial features, double outlet right ventricle, hypotonia, hypospadias, neonatal thrombocytopenia, hydroureteronephrosis, talipes equinovarus and septum pellucidum et vergae. Cytogenetic investigation revealed 46,XY,der(11)t(3;11)(p22.2;q23.3) and the karyotype of his father showed a balanced translocation, 46XY,t(3;11)(p22.2;p23.3).
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PMID:Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report. 2455 81