Transcobalamin II deficiency
- Synonyms
- TC II DEFICIENCY; TCN2 DEFICIENCY; Transcolabamin II deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (58 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Erythroid hypoplasia
Erythroid hypoplasia
- MedGen UID: 488912
- Concept ID: C0542035
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Macrocytic anemia
Macrocytic anemia
- MedGen UID: 1920
- Concept ID: C0002886
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Megaloblastic bone marrow
Megaloblastic bone marrow
- MedGen UID: 68673
- Concept ID: C0238801
- Finding: Laboratory or Test Result
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Reticulocytopenia
Reticulocytopenia
- MedGen UID: 167812
- Concept ID: C0858867
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Erythroid hypoplasia
- Abnormality of head or neck
- Abnormality of the mouth
Abnormality of the mouth
- MedGen UID: 6447
- Concept ID: C0026633
- Finding: Congenital Abnormality
Abnormality of head or neck
- Abnormality of the mouth
- Abnormality of metabolism/homeostasis
- Abnormal blood folate concentration
Abnormal blood folate concentration
- MedGen UID: 866690
- Concept ID: C4021037
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal blood folate concentration
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Diarrhea
- Abnormality of the genitourinary system
- Methylmalonic aciduria
Methylmalonic aciduria
- MedGen UID: 343266
- Concept ID: C1855119
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Methylmalonic aciduria
- Abnormality of the immune system
- Decreased circulating IgA level
Decreased circulating IgA level
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgG level
Decreased circulating IgG level
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Decreased circulating total IgM
Decreased circulating total IgM
- MedGen UID: 116095
- Concept ID: C0239989
- Finding: Finding
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgA level
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Irritability
Irritability
- MedGen UID: 397841
- Concept ID: C2700617
- Finding: Mental Process
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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