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 ⁶

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

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 301015

SNOMED-CT via HPO ⁶⁹ 61261009

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Summaries for Hemolytic Anemia, Congenital, X-Linked

MalaCards based summary : Hemolytic Anemia, Congenital, X-Linked An important gene associated with Hemolytic Anemia, Congenital, X-Linked is ATP11C (ATPase Phospholipid Transporting 11C). 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

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

Human phenotypes related to Hemolytic Anemia, Congenital, X-Linked:

³²

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

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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

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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	950	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷	26944472

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Variations for Hemolytic Anemia, Congenital, X-Linked

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	Pathogenic		GRCh38	Chromosome X, 139789451: 139789451
2	ATP11C	NM_001010986.2(ATP11C): c.1253C> A (p.Thr418Asn)	single nucleotide variant	Pathogenic		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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia