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204 Possible Causes for Transcobalamin 2 Deficiency

  • Vitamin B12 Deficiency

    Failure of intracellular transport of B12 by transcobalamin-2 can lead to functional B12 deficiency but with apparently normal serum levels, and is suggested by raised levels[ncbi.nlm.nih.gov] Failure of intracellular transport of B12 by transcobalamin-2 can lead to functional B12 deficiency but with apparently normal serum levels. [ 5 ] Causes of macrocytosis [[patient.info] […] of either serum methylmalonic acid or homocysteine, associated with low levels of transcobalamin-2.[ncbi.nlm.nih.gov]

  • Transcobalamin 2 Deficiency

    These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106 1516-1222 1231del).[ncbi.nlm.nih.gov] RESULTS: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106 1516-1222 1231del).[ingentaconnect.com] Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations.[ncbi.nlm.nih.gov]

  • Acne Vulgaris

    Cobalamin pseudodeficiency due to a transcobalamin I deficiency. South Med J. 2002;95(9):1060–2. PubMed CrossRef Google Scholar 9.[dx.doi.org]

  • Transcobalamin 1 Deficiency

    We report the clinical and laboratory manifestations of 7 children diagnosed with transcobalamin deficiency.[ingentaconnect.com] Exome next-generation sequencing revealed 2 variants of the TCN2 gene (22q12.2), a 2-base deletion, and a nonsense mutation, consistent with transcobalamin II (TCII) deficiency.TCII[imagebank.hematology.org] The diagnosis of transcobalamin II deficiency was not made until he was 2 years old when he showed severely retarded intellectual development, ataxia and pyramidal deficit[jnnp.bmj.com]

  • Familial Hypercholesterolemia

    1 Transcobalamin II Deficiency 3 Transient Bullous Dermolysis Of The Newborn 1 Transposition Of The Great Arteries, Dextro-Looped 3 2 Treacher Collins Syndrome 4 Treacher[preventiongenetics.com] 5 Methylmalonic Aciduria Due To Transcobalamin Receptor Defect 5 Methylmalonyl-CoA Epimerase Deficiency 4 Mevalonic Aciduria 1 Microcephalic Osteodysplastic Primordial Dwarfism[preventiongenetics.com] Type 2 1 Microcephaly 18, Primary, Autosomal Dominant 1 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 1 Microcephaly and Chorioretinopathy, Autosomal Recessive[preventiongenetics.com]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    […] type 36 transcobalamin 2 deficiency 37 propionic acidemia 38 isovaleric aciduria 39 3-methylcrotonylglycinuria 40 3 methylglutaconic aciduria type 1, 2, 3, 4, 5 41 HMG CoA[boks.be] 32 hypotonia-cystinuria 33 Lowe oculocerebral syndrome B. organic acidemias ( tweede document ) 34 methylmalonic aciduria (CblA,B,C,D,F) 35 methylmalonic aciduria mutase deficiency[boks.be]

  • Dilated Cardiomyopathy Type 2B

    TRN021 TALDOD Transcobalamin Deficiency TRN059 Transcobalamin I Deficiency TRN067 Transcobalamin Ii Deficiency TRN022 TCN2 DEFICIENCY Transferrin Serum Level Quantitative[malacards.org] 1 Transcobalamin II Deficiency 3 Transient Bullous Dermolysis Of The Newborn 1 Transposition Of The Great Arteries, Dextro-Looped 3 2 Treacher Collins Syndrome 4 Treacher[preventiongenetics.com] Trait Locus 2 TRN072 Transient Arthritis TRN014 Transient Bullous Dermolysis of the Newborn TRN029 TBDN Transient Cerebral Ischemia TRN015 TIA Transient Erythroblastopenia[malacards.org]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    […] type 36 transcobalamin 2 deficiency 37 propionic acidemia 38 isovaleric aciduria 39 3-methylcrotonylglycinuria 40 3 methylglutaconic aciduria type 1, 2, 3, 4, 5 41 HMG CoA[boks.be] Transcobalamin II deficiency S TCN2 deficiency S TC II deficiency S Vitamin B12-binding protein 2 deficiency 13.2.5.[studyres.com] 32 hypotonia-cystinuria 33 Lowe oculocerebral syndrome B. organic acidemias ( tweede document ) 34 methylmalonic aciduria (CblA,B,C,D,F) 35 methylmalonic aciduria mutase deficiency[boks.be]

  • Retinitis Pigmentosa

    […] syndrome TC deficiency, see Transcobalamin deficiency TC II deficiency, see Transcobalamin deficiency TCC, see Tarsal-carpal coalition syndrome TCD, see Choroideremia TCN2[herenciageneticayenfermedad.blogspot.com] […] syndrome, see DNMT3A overgrowth syndrome Tay-Sachs disease Tay-Sachs Disease, AB Variant, see GM2-gangliosidosis, AB variant Taybi syndrome, see Otopalatodigital syndrome type 2[herenciageneticayenfermedad.blogspot.com] Taybi syndrome, see Otopalatodigital syndrome type 1 TAZ defect, see Barth syndrome TBG deficiency, see Inherited thyroxine-binding globulin deficiency TBRS, see DNMT3A overgrowth[herenciageneticayenfermedad.blogspot.com]

  • Familial Neutropenia

    […] mammalian sterile 20-like 1 MST1 TAZ Barth syndrome tafazzin TAZ TCN2 Transcobalamin 2 deficiency transcobalamin 2 TCN2 VPS13B Cohen syndrome vacuolar protein sorting 13[invitae.com] Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017;39(8):e430-e436.[invitae.com] […] homolog B COH1 VPS45 VPS45 deficiency (SCN5) vacuolar protein sorting 45 VPS45 WAS Wiskott-Aldrich syndrome, X-linked neutropenia/myelodysplasia WAS protein WASP Clinical[invitae.com]

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