KEGG   DISEASE: Atransferrinemia
Entry
H01145                      Disease                                
Name
Atransferrinemia;
Congenital hypotransferrinemia
Description
Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A00  Iron deficiency anaemia
     H01145  Atransferrinemia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06525  Ferroptosis
   H01145  Atransferrinemia
Pathway
hsa04978  Mineral absorption
hsa04216  Ferroptosis
Network
nt06525 Ferroptosis
Gene
TF [HSA:7018] [KO:K14736]
Other DBs
ICD-11: 3A00.Y
ICD-10: D50.8
OMIM: 209300
Reference
PMID:11110675
  Authors
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
  Title
Molecular characterization of a case of atransferrinemia.
  Journal
Blood 96:4071-4 (2000)
Reference
PMID:18097132 (TF)
  Authors
Aslan D, Crain K, Beutler E
  Title
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.
  Journal
Acta Haematol 118:244-7 (2007)
DOI:10.1159/000112726
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