HAXL
MCID: HML053
MIFTS: 15

Hemolytic Anemia, Congenital, X-Linked (HAXL)

Categories: 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 57 74 6
Haxl 74

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:



External Ids:

OMIM 57 301015
MeSH 44 D000745

Summaries for Hemolytic Anemia, Congenital, X-Linked

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

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:

32
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 32 HP:0001878
2 jaundice 32 HP:0000952

Symptoms via clinical synopsis from OMIM:

57
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

Anatomical Context for Hemolytic Anemia, Congenital, X-Linked

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

41
Bone, Bone Marrow, 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. 8 71
26944472 2016
2
MicroPET/CT Imaging of AXL Downregulation by HSP90 Inhibition in Triple-Negative Breast Cancer. 38
29097911 2017

Variations for Hemolytic Anemia, Congenital, X-Linked

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ATP11C NM_001010986.3(ATP11C): c.1253C> A (p.Thr418Asn) single nucleotide variant Likely pathogenic rs1556323334 X:138871610-138871610 X:139789451-139789451

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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