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Summary
SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE (SCE-EDS)
612350
OMIM = Online Medalian Inheritance of Men
157965
11p11.2
rare
autosomal recessive
mutation in the zinc transporter gene SLC39A13
symptoms
finger anomalies
joint hypermobilty, dislocations
sclerae, blue or bluish
short stature
skeletal changes, skeletal abnormalities
skin hyperelasticity
skin, abnormal
Teeth: delayed eruption or noneruption
Teeth: generalized defect or abnormalities
laboratory finding
crosslinks lysyl pyridinoline (LP)/hydroxylysyl pyridinoline (HP) increased ratiourine
Zinc increasedER, Golgi
Literature
Zanatta A,et al.Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) SyndromeCell Mol Neurobiol356797-8062015
Kumar K,et al.Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare associationRetin Cases Brief Rep92134-1372015
Martinelli D,et al.The hyperornithinemia-hyperammonemia-homocitrullinuria syndromeOrphanet J Rare Dis100292015
Doimo M,et al.Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansJIMD Rep280119-1262015
Zanatta A,et al.Ornithine and Homocitrulline Impair Mitochondrial Function, Decrease Antioxidant Defenses and Induce Cell Death in Menadione-Stressed Rat Cortical Astrocytes: Potential Mechanisms of Neurological Dysfunction in HHH SyndromeNeurochem Res4192190-21982016