KEGG DISEASE: X-linked congenital hemolytic anemia

KEGG

DISEASE: X-linked congenital hemolytic anemia

Entry

H02658                      Disease

Name

X-linked congenital hemolytic anemia

Description

X-linked congenital hemolytic anemia (HACXL) is a recently reported hemolytic anemia caused by mutations in the ATP11C. ATP11C encodes a major flippase in human erythrocytes. Flippase transports phospholipids from the outer to the inner leaflet of the lipid bilayer and maintains asymmetric distribution of phospholipids in the plasma membrane.

Category

Hematologic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Haemolytic anaemias
    Congenital haemolytic anaemia
     3A10  Hereditary haemolytic anaemia
      H02658  X-linked congenital hemolytic anemia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H02658  X-linked congenital hemolytic anemia

Network

nt06535 Efferocytosis

Gene

ATP11C [HSA:286410] [KO:K26934]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Arashiki N, Takakuwa Y, Mohandas N, Hale J, Yoshida K, Ogura H, Utsugisawa T, Ohga S, Miyano S, Ogawa S, Kojima S, Kanno H

Title

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.

Journal

Haematologica 101:559-65 (2016)
DOI:10.3324/haematol.2016.142273

Reference

Authors

Arashiki N, Niitsuma K, Seki M, Takakuwa Y, Nakamura F

Title

ATP11C T418N, a gene mutation causing congenital hemolytic anemia, reduces flippase activity due to improper membrane trafficking.

Journal

Biochem Biophys Res Commun 516:705-712 (2019)
DOI:10.1016/j.bbrc.2019.06.092

LinkDB

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