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Summary
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (SOPH)
SOPH-SYNDROME
614800
OMIM = Online Medalian Inheritance of Men
391677
2p24.3
rare
autosomal recessive
mutation in the NBAS gene
symptoms
bone age, advanced
brachycephaly
dysmorphism
growth retardation
hair, abnormal (thin, brittle, fine)
hypotonia
liver failure
liver involvement or dysfunction
myopia
onset, infancy
optic atrophy
strabismus
syndactyly
laboratory finding
Transaminases increasedserum
Literature
Darin N,et al.Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent EpilepsyAm J Hum Genet9961325-13372016
Mehta M,et al.Anticonvulsant hypersensitivity syndrome associated with carbamazepine administration: Case seriesJ Pharmacol Pharmacother5159-622014
Anikster Y,et al.Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityAm J Hum Genet1002257-2662017
Brown SC,Dauterive RLAnticonvulsant hypersensitivity syndrome secondary to carbamazepineProc (Bayl Univ Med Cent)30194-962017