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 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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 301015

MeSH ⁴⁵ D000745

MedGen ⁴³ CN253426

SNOMED-CT via HPO ⁷⁰ 61261009

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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

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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:

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

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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:

⁴²

Bone, Bone Marrow

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Publications for Hemolytic Anemia, Congenital, X-Linked

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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	877.95	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)

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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

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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 FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

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

ClinVar 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