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IMMUNODEFICIENCY 47 (IMD47); ATP6-CDG

IMMUNODEFICIENCY 47 (IMD47); ATP6-CDG
ATP6-CDG
300972
OMIM = Online Mendelian Inheritance of Men
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V-type proton ATPase subunit S1
Xq28
very rare
X-linked recessive
mutation in the ATP6AP1 gene
Laboratory findings    Ceruloplasmin dec (serum)
    Copper dec (urine)
    Phosphatase, alkaline inc (serum)
    Transaminases (ASAT/ALAT) inc (serum)
Symptoms    behavior, abnormal or bizarre, confusion
    cirrhosis or fibrosis of liver
    cutis laxa
    hearing defect, deafness
    hepatomegaly (large liver)
    immunodeficiency
    infections (severe or recurrent)
    intellectual disability/intellectual developmental disorder
    jaundice
    leukopenia
    liver involvement or dysfunction
    onset, childhood
    onset, infancy
    pain, abdominal
    pancreatic dysfunction, exocrine
    seizures
    splenomegaly (large spleen)