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Summary
ALPORT SYNDROME
ALPORT SYNDROME NEPHROPATHY AND DEAFNESS, X-LINKED
301050
OMIM = Online Medalian Inheritance of Men
63
Xq22.3
  • hemofiltration/hemodialysis/peritonealdialysis
  • kidney transplantation
  • no specific treatment
rare
X-linked dominant
mutation in the collagen, type IV, alpha-5 gene
symptoms
cataract
eye defect beginning in infancy or childhood
hearing defect, deafness
hematuria
hypertension
ichthyosis
leiomyomatosis
nephritis
onset, adolescent
onset, adulthood
onset, childhood
proteinuria
renal failure, acute/chronic
thrombopenia, thrombocytopenia
laboratory finding
Thrombocytes, Platelets normal/decreasedblood
Erythrocytes60.005000.000.0012.00/-Álurine
Protein 50.0080.00increasedurine
DNA
Literature
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Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Wada Het al.Benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiencyNo To Hattatsu285443-4471996
Diaz-Meyer Net al.Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndromeJ Med Genet4011797-8012003
Sakuta RBenign infantile mitochondrial myopathyRyoikibetsu Shokogun Shirizu360181-1822001
Savaiano DLactose intolerance: a self-fulfilling prophecy leading to osteoporosis?Nutr Rev614221-2232003
Yanase Tet al.17-Hydroxylase/17,20-desmolase deficiency: from clinical investigation to molecular definitionEndocr Rev120911991
Zimran Aet al.High frequency of the 1226 mutation for type I Gaucher disease among Ashkenazi jewish populationAm J Hum Genet4908551991
Campos Yet al.Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi syndromePediatr Neurol13069-721995
Carelli Vet al.Bioenergetics shapes cellular death pathways in Lebers hereditary optic neuropathy: a model of mitochondrial neurodegenerationBiochim Biophys Acta16580172-1792004
Idzior-Walus Bet al.Familial lecithin-cholesterol acyltransferase deficiency: Biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish familyAtherosclerosis002005
Baracca Aet al.Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybridsArch Neurol625730-7362005
Shneider BLet al.Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosisHepatology414712-7212005
Manfredi Get al.A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding geneNeuromuscul Disord50391-3981995
Ylitalo Ket al.Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiencyAm J Obstet Gynecol19262060-20622005
Kim IOet al.Mitochondrial myopathy-encephalopathy-lactic acidosis and strokelke episodes (MELAS) syndrome: CT and MR findings in seven childrenAJR Am J Roentgenol1660641-6451996
Havel RJKane JPIntroduction: structure and metabolism of plasma lipoproteinsThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.201841-18511995
Montine TJet al.Alpers syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old maleClin Neuropathol140322-3261995
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Ayyobi AFet al.Lecithin: cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-upAtherosclerosis1772361-3662004