Pyridoxine-Responsive Sideroblastic Anemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Pyridoxine-Responsive Sideroblastic Anemia

MalaCards integrated aliases for Pyridoxine-Responsive Sideroblastic Anemia:

Name: Pyridoxine-Responsive Sideroblastic Anemia ¹² ²⁹ ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060066

UMLS ⁷¹ C0272027

Sources

Summaries for Pyridoxine-Responsive Sideroblastic Anemia

Disease Ontology : ¹² A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has material basis in X-linked inheritance.

MalaCards based summary : Pyridoxine-Responsive Sideroblastic Anemia is related to anemia, sideroblastic, 1 and anemia, x-linked, with or without neutropenia and/or platelet abnormalities. An important gene associated with Pyridoxine-Responsive Sideroblastic Anemia is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways is Malaria. Affiliated tissues include bone marrow, bone and liver.

Sources

Related Diseases for Pyridoxine-Responsive Sideroblastic Anemia

Diseases in the Pyridoxine-Responsive Sideroblastic Anemia family:

Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive

Diseases related to Pyridoxine-Responsive Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)

#	Related Disease	Score	Top Affiliating Genes
1	anemia, sideroblastic, 1	32.8	HBB ALAS2
2	anemia, x-linked, with or without neutropenia and/or platelet abnormalities	30.6	HBB ALAS2
3	anemia, sideroblastic, pyridoxine-responsive, autosomal recessive	12.2
4	sideroblastic anemia	10.7
5	deficiency anemia	10.5
6	hypochromic microcytic anemia	9.9	HBB ALAS2
7	microcytic anemia	9.9	HBB ALAS2
8	hemoglobinopathy	9.8	HBB ALAS2
9	hemoglobin d disease	9.7	HBB GYPA
10	hereditary elliptocytosis	9.6	HBB GYPA
11	congenital hemolytic anemia	9.5	HBB GYPA
12	hemochromatosis, type 1	9.5	HBB ALAS2
13	parasitic protozoa infectious disease	9.5	HBB GYPA
14	hereditary spherocytosis	9.4	HBB GYPA

Graphical network of the top 20 diseases related to Pyridoxine-Responsive Sideroblastic Anemia:

Sources

Symptoms & Phenotypes for Pyridoxine-Responsive Sideroblastic Anemia

Sources

Drugs & Therapeutics for Pyridoxine-Responsive Sideroblastic Anemia

Search Clinical Trials , NIH Clinical Center for Pyridoxine-Responsive Sideroblastic Anemia

Sources

Genetic Tests for Pyridoxine-Responsive Sideroblastic Anemia

Genetic tests related to Pyridoxine-Responsive Sideroblastic Anemia:

#	Genetic test	Affiliating Genes
1	Pyridoxine-Responsive Sideroblastic Anemia ²⁹

Sources

Anatomical Context for Pyridoxine-Responsive Sideroblastic Anemia

MalaCards organs/tissues related to Pyridoxine-Responsive Sideroblastic Anemia:

⁴⁰

Bone Marrow, Bone, Liver

Sources

Publications for Pyridoxine-Responsive Sideroblastic Anemia

Articles related to Pyridoxine-Responsive Sideroblastic Anemia:

(show all 11)

#	Title	Authors	PMID	Year
1	[Vitamin B6-sensitive hereditary sideroblastic anemia]. ⁶¹	Heller T...Borck V	14724775	2004
2	A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. ⁶¹	Harigae H...Sasaki T	10577279	1999
3	Pyridoxine-responsive sideroblastic anemia in four children. ⁶¹	Altay C...Gumruk F	7626392	1995
4	X-linked, pyridoxine-responsive sideroblastic anemia. ⁶¹	Harris JW	8107723	1994
5	X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. ⁶¹	Cox TC...May BK	8107717	1994
6	Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia. ⁶¹	Cox TC...Mulley JC	1301172	1992
7	5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. ⁶¹	Bottomley SS...May BK	1415186	1992
8	Sideroblastic anemia showing unique response to pyridoxine. ⁶¹	Murakami R...Kondou M	1793162	1991
9	Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia. ⁶¹	Hines JD	935887	1976
10	Pyridoxine responsive sideroblastic anemia. ⁶¹	Hazra DK...Gupta RN	4435927	1974
11	Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. ⁶¹	Haden HT	6054596	1967

Sources

Genes for Pyridoxine-Responsive Sideroblastic Anemia

Genes related to Pyridoxine-Responsive Sideroblastic Anemia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	24.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
2	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	6.06	DISEASES inferred ¹⁵
3	GYPA	Glycophorin A (MNS Blood Group)	Protein Coding	6.04	DISEASES inferred ¹⁵
4	HBB	Hemoglobin Subunit Beta	Protein Coding	5.52	DISEASES inferred ¹⁵

Sources

Variations for Pyridoxine-Responsive Sideroblastic Anemia

Sources

Expression for Pyridoxine-Responsive Sideroblastic Anemia

Search GEO for disease gene expression data for Pyridoxine-Responsive Sideroblastic Anemia.

Sources

Pathways for Pyridoxine-Responsive Sideroblastic Anemia

Pathways related to Pyridoxine-Responsive Sideroblastic Anemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Malaria ³⁶	10.32	HBB GYPA

Sources

GO Terms for Pyridoxine-Responsive Sideroblastic Anemia

Sources

Sources for Pyridoxine-Responsive Sideroblastic Anemia

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

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