Hemolytic Anemia, Congenital, X-Linked disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 301015

MeSH ⁴³ D000745

MedGen ⁴¹ C4746970 CN253426

SNOMED-CT via HPO ⁶⁸ 18165001 61261009

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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 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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Related Diseases for Hemolytic Anemia, Congenital, X-Linked

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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	hemolytic anemia ³¹		HP:0001878
2	jaundice ³¹		HP:0000952

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

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

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

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Genetic Tests for Hemolytic Anemia, Congenital, X-Linked

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Anatomical Context for Hemolytic Anemia, Congenital, X-Linked

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

⁴⁰

Bone, Bone Marrow, Breast

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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	Arashiki N...Kanno H	26944472	2016
2	MicroPET/CT Imaging of AXL Downregulation by HSP90 Inhibition in Triple-Negative Breast Cancer. ⁶¹	Wang W...Li C	29097911	2017

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Genes for Hemolytic Anemia, Congenital, X-Linked

Genes related to Hemolytic Anemia, Congenital, X-Linked (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	867.88	Molecular basis known ⁵⁶ Causative variation ⁷³ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Hemolytic Anemia, Congenital, X-Linked

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

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Pathways for Hemolytic Anemia, Congenital, X-Linked

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GO Terms for Hemolytic Anemia, Congenital, X-Linked

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Sources for Hemolytic Anemia, Congenital, X-Linked

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hemolytic Anemia, Congenital, X-Linked (HAXL)

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Hemolytic Anemia, Congenital, X-Linked

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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Hemolytic Anemia, Congenital, X-Linked

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

Genes for Hemolytic Anemia, Congenital, X-Linked

Genes related to Hemolytic Anemia, Congenital, X-Linked (1 elite genes):

Variations for Hemolytic Anemia, Congenital, X-Linked

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

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

Expression 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