HAXL
MCID: HML053
MIFTS: 13

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 58 76 6
Haxl 76

Characteristics:

OMIM:

58
Miscellaneous:
congenital onset
one japanese man has been reported (last curated august 2018)

Inheritance:
x-linked recessive


HPO:

33
hemolytic anemia, congenital, x-linked:
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 58 301015
MeSH 45 D000745
MedGen 43 CN253426
SNOMED-CT via HPO 70 61261009

Summaries for Hemolytic Anemia, Congenital, X-Linked

UniProtKB/Swiss-Prot : 76 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 and bone marrow, and related phenotype is hemolytic anemia.

Description 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:

33
# Description HPO Frequency HPO Source Accession
1 hemolytic anemia 33 HP:0001878

Symptoms via clinical synopsis from OMIM:

58
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:

42
Bone, Bone Marrow

Publications for Hemolytic Anemia, Congenital, X-Linked

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

# Title Authors Year
1
ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia. ( 26944472 )
2016

Variations for Hemolytic Anemia, Congenital, X-Linked

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

76
# Symbol AA change Variation ID SNP ID
1 ATP11C p.Thr418Asn VAR_081016

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP11C NM_001010986.2(ATP11C): c.1253C> A (p.Thr418Asn) single nucleotide variant Likely pathogenic rs1556323334 GRCh38 Chromosome X, 139789451: 139789451
2 ATP11C NM_001010986.2(ATP11C): c.1253C> A (p.Thr418Asn) single nucleotide variant Likely pathogenic rs1556323334 GRCh37 Chromosome X, 138871610: 138871610

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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