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Summary
DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME (DOORS)
DOOR SYNDROME
220500
OMIM = Online Medalian Inheritance of Men
79500
16p13.3
rare
autosomal recessive
mutation in the TBC1D24 gene
2 types:
- organic acid abnormalities
- not accompanied with organic acid abnormalities
symptoms
ataxia
blindness, visual loss, visual impairment
cataract
cerebral atrophy
coarse facial features
congenital heart defect
developmental delay
dysmorphism
early death
feeding difficulties, poor feeding
hearing defect, deafness
hyporeflexia
hypotonia
mental retardation
microcephaly (<2 SD for age)
myopia
onset, infancy
onychodystrophy
optic atrophy
osteodystrophy
peripheral neuropathy
psychomotor retardation
renal cysts
seizures
short stature
laboratory finding
Thiamine pyrophosphate increasedurine
MRI, brain, abnormalities -
Literature
Broer SDiseases associated with general amino acid transporters of the solute carrier 6 family (SLC6)Curr Mol Pharmacol6274-872013
Di Rosa G,et al.Long-term neuropsychiatric follow-up in hyperprolinemia type IPsychiatr Genet244172-1752014
Broer A,et al.Sodium translocation by the iminoglycinuria associated imino transporter (SLC6A20)Mol Membr Biol265333-3462009
Jang MA,et al.Identification of PRODH mutations in Korean neonates with type I hyperprolinemiaAnn Clin Lab Sci43131-362013
Broer S,et al.Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transportersJ Clin Invest118123881-38922008
van de Ven S,et al.Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemiaJ Inherit Metab Dis373383-3902014