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Transcobalamin I deficiency

MedGen UID:
90993
Concept ID:
C0342700
Disease or Syndrome
Synonyms: Cobalamin pseudodeficiency due to transcobalamin deficiency; Cobalamin r binder protein deficiency; TCN1 deficiency; Transcobalamin 1 deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Transcobalamin I deficiency (237933007); R-binder deficiency (237933007)
 
OMIM®: 193090
Orphanet: ORPHA2967

Clinical features

Paresthesia
MedGen UID:
14619
Concept ID:
C0030554
Disease or Syndrome
Abnormal cutaneous sensations of tingling, numbness, pressure, cold, and warmth that an individual experiences without the presence of a stimulus. It results from functional disturbances of sensory neurons. Causes include peripheral vascular disease, peripheral neuropathy, and nerve damage.
Reduced tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTranscobalamin I deficiency
Follow this link to review classifications for Transcobalamin I deficiency in Orphanet.

Recent clinical studies

Diagnosis

Nissen PH, Nordwall M, Hoffmann-Lücke E, Sorensen BS, Nexo E
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S269-74. Epub 2010 Jul 6 doi: 10.1007/s10545-010-9145-z. PMID: 20607612
Adcock BB, McKnight JT
South Med J 2002 Sep;95(9):1060-2. PMID: 12356110

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