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 ⁵⁷ ⁷³

X-Linked Congenital Hemolytic Anemia ¹² ²⁹ ⁶

Haxl ⁷³

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111846

OMIM® ⁵⁷ 301015

MeSH ⁴⁴ 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 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 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

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Skin Nails Hair Skin:
jaundice, mild

Hematology:
hemolytic anemia, mild
normal red cell morphology

Clinical features from OMIM®:

301015 (Updated 05-Mar-2021)

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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

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

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

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Anatomical Context for Hemolytic Anemia, Congenital, X-Linked

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

⁴⁰

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. ⁵⁷ 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	PubMed IDs
1	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	992.03	Molecular basis known ⁵⁷ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	26944472

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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_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)	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 GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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 MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

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

Genetic tests related to 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