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HAXL
MCID: HML053
MIFTS: 15
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Hemolytic Anemia, Congenital, X-Linked (HAXL)
Categories:
Genetic diseases
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MalaCards integrated aliases for Hemolytic Anemia, Congenital, X-Linked:
Characteristics:OMIM:57
Miscellaneous:
congenital onset one japanese man has been reported (last curated august 2018)
Inheritance:
x-linked recessive HPO:32
hemolytic anemia, congenital, x-linked:
Onset and clinical course congenital onset Inheritance x-linked recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot
:
74
Hemolytic anemia, congenital, X-linked: An X-linked hematologic disease characterized by shortened survival of erythrocytes due to congenital hemolysis that cannot be compensated by bone marrow activity. Clinical features are mild jaundice and anemia. Red cells morphology is normal.
MalaCards based summary : Hemolytic Anemia, Congenital, X-Linked, is also known as haxl. An important gene associated with Hemolytic Anemia, Congenital, X-Linked is ATP11C (ATPase Phospholipid Transporting 11C). Affiliated tissues include bone, bone marrow and breast, and related phenotypes are hemolytic anemia and jaundice
More information from OMIM:
301015
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Human phenotypes related to Hemolytic Anemia, Congenital, X-Linked:32
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MalaCards organs/tissues related to Hemolytic Anemia, Congenital, X-Linked:41
Bone,
Bone Marrow,
Breast
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Articles related to Hemolytic Anemia, Congenital, X-Linked:
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Genes related to Hemolytic Anemia, Congenital, X-Linked (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Hemolytic Anemia, Congenital, X-Linked:6
UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Congenital, X-Linked:74
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Search
GEO
for disease gene expression data for Hemolytic Anemia, Congenital, X-Linked.
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