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Summary
CALFAN SYNDROME
LOW +ô-GLUTAMYL-TRANSFERASE CHOLESTASIS, ACUTE LIVER FAILURE AND NEURODEGENERATION
616719
OMIM = Online Medalian Inheritance of Men
new disease?
biallelic SCYL1 variant
symptoms
ataxia
cerebellar atrophy or hypoplasia
cholestasis
failure to thrive
hepatomegaly (large liver)
intrauterine growth retardation
liver failure
microcephaly (<2 SD for age)
muscle weakness
onset, childhood
onset, infancy
peripheral neuropathy
short stature
speech development, delayed, abnormal
splenomegaly (large spleen)
laboratory finding
Transaminases U/lserum
Bilirubin +€mol/lserum
gamma-Glutamyl transferase (GGT) U/lserum
Phosphatase, alkaline U/lserum
Literature
Fernandes NF,Janniger CK, Schwartz RAX-linked ichthyosis: an oculocutaneous genodermatosisJ Am Acad Dermatol623480-4852010
Ichida K,et al.Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humansnt J Mol Sci131115475-952012