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Summary
COBALAMIN F DISEASE (cblF)
277380
OMIM = Online Medalian Inheritance of Men
79284
6q13
  • vitamin B12 (hydroxycobalamin)
rare
autosomal recessive
disorder of intracellular cobalamin metabolism
mutation in the LMBRD1 gene
symptoms
anemia
birthweight low (small for gestational age)
Cobalamin
congenital heart defect
dysmorphism
failure to thrive
feeding difficulties, poor feeding
growth retardation
hypotonia
onset, neonatal
seizures
short stature
speech development, delayed, abnormal
laboratory finding
Homocysteine increasedplasma
Methylmalonic acid0.000.00 increasedurineno data
Literature
Stefkova JPoledne R, Hubacek JAATP-binding cassette (ABC) transporters in human metabolism and diseasesPhysiol Res533235-2432004
Reddi OSReddy SV, Reddy KRA sibship with hypervalinemiaHum Genet391139-1421977
Kocen RSet al.Familial alpha-lipoprotein deficiency (Tangier disease) with neurological abnormalitiesLancet101341-13451967
Zuchner Set al.A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier diseaseBrain1260920-9272003
Guan JZet al.A case of Tangier disease with a novel mutation in the C-terminal region of ATP-binding cassette transporter A1Am J Med Genet1300398-4012004
Stefkova JPoledne R, Hubacek JAATP-binding cassette (ABC) transporters in human metabolism and diseasesPhysiol Res533235-2432004
Lachaux Aet al.Early manifestations of Tangier diseaseArch Pediatr25447-4511995
Bertolini Set al.A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier diseaseAtherosclerosis1543599-6052001