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ALPORT SYNDROME

ALPORT SYNDROME
ALPORT SYNDROME; NEPHROPATHY AND DEAFNESS, X-LINKED
301050
OMIM = Online Mendelian Inheritance of Men
63
Collagen alpha-5(IV) chain
Xq22.3
Q87.8
rare
X-linked dominant
mutation in the collagen, type IV, alpha-5 gene
Laboratory findings    Erythrocytes inc (urine)
    Protein inc (urine)
    Thrombocytes, Platelets normal/dec (blood)
Symptoms    cataract
    DNA
    eye defect beginning in infancy or childhood
    hearing defect, deafness
    hematuria
    hypertension
    ichthyosis
    myopia
    nephritis
    nephropathy
    nephrotic syndrome
    onset, adolescent
    onset, adulthood
    onset, childhood
    proteinuria
    renal failure, acute/chronic
    thrombopenia, thrombocytopenia