HAXL
MCID: HML053
MIFTS: 17

Hemolytic Anemia, Congenital, X-Linked (HAXL)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Hemolytic Anemia, Congenital, X-Linked

MalaCards integrated aliases for Hemolytic Anemia, Congenital, X-Linked:

Name: Hemolytic Anemia, Congenital, X-Linked 56 73
X-Linked Congenital Hemolytic Anemia 12 29 6
Haxl 73

Characteristics:

OMIM:

56
Miscellaneous:
congenital onset
one japanese man has been reported (last curated august 2018)

Inheritance:
x-linked recessive


HPO:

31
hemolytic anemia, congenital, x-linked:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111846
OMIM 56 301015
MeSH 43 D000745
SNOMED-CT via HPO 68 18165001 61261009
UMLS 71 C4746970

Summaries for Hemolytic Anemia, Congenital, X-Linked

UniProtKB/Swiss-Prot : 73 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 x-linked congenital hemolytic anemia. An important gene associated with Hemolytic Anemia, Congenital, X-Linked is ATP11C (ATPase Phospholipid Transporting 11C). Affiliated tissues include bone marrow, bone and breast, and related phenotypes are jaundice and hemolytic anemia

Disease Ontology : 12 A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has material basis in hemizygous mutation in ATP11C on chromosome Xq27.1.

More information from OMIM: 301015

Related Diseases for Hemolytic Anemia, Congenital, X-Linked

Symptoms & Phenotypes for Hemolytic Anemia, Congenital, X-Linked

Human phenotypes related to Hemolytic Anemia, Congenital, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 jaundice 31 HP:0000952
2 hemolytic anemia 31 HP:0001878

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
jaundice, mild

Hematology:
hemolytic anemia, mild
normal red cell morphology

Clinical features from OMIM:

301015

Drugs & Therapeutics for Hemolytic Anemia, Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Hemolytic Anemia, Congenital, X-Linked

Genetic Tests for Hemolytic Anemia, Congenital, X-Linked

Genetic tests related to Hemolytic Anemia, Congenital, X-Linked:

# Genetic test Affiliating Genes
1 X-Linked Congenital Hemolytic Anemia 29 ATP11C

Anatomical Context for Hemolytic Anemia, Congenital, X-Linked

MalaCards organs/tissues related to Hemolytic Anemia, Congenital, X-Linked:

40
Bone Marrow, Bone, Breast

Publications for Hemolytic Anemia, Congenital, X-Linked

Articles related to Hemolytic Anemia, Congenital, X-Linked:

# Title Authors PMID Year
1
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. 56 6
26944472 2016
2
MicroPET/CT Imaging of AXL Downregulation by HSP90 Inhibition in Triple-Negative Breast Cancer. 61
29097911 2017

Variations for Hemolytic Anemia, Congenital, X-Linked

ClinVar genetic disease variations for Hemolytic Anemia, Congenital, X-Linked:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP11C NM_001010986.3(ATP11C):c.1253C>A (p.Thr418Asn)SNV Likely pathogenic 560168 rs1556323334 X:138871610-138871610 X:139789451-139789451

UniProtKB/Swiss-Prot genetic disease variations for Hemolytic Anemia, Congenital, X-Linked:

73
# Symbol AA change Variation ID SNP ID
1 ATP11C p.Thr418Asn VAR_081016 rs155632333

Expression for Hemolytic Anemia, Congenital, X-Linked

Search GEO for disease gene expression data for Hemolytic Anemia, Congenital, X-Linked.

Pathways for Hemolytic Anemia, Congenital, X-Linked

GO Terms for Hemolytic Anemia, Congenital, X-Linked

Sources for Hemolytic Anemia, Congenital, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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