MCID: PYR006
MIFTS: 17

Pyridoxine-Responsive Sideroblastic Anemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Pyridoxine-Responsive Sideroblastic Anemia

MalaCards integrated aliases for Pyridoxine-Responsive Sideroblastic Anemia:

Name: Pyridoxine-Responsive Sideroblastic Anemia 12 29 15 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0060066
UMLS 72 C0272027

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 deficiency anemia. 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, bone marrow and liver.

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:

# Related Disease Score Top Affiliating Genes
1 anemia, sideroblastic, 1 32.3 HBB ALAS2
2 deficiency anemia 29.6 HBB ALAS2
3 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 12.2
4 sideroblastic anemia 10.7
5 hereditary spherocytosis 9.3 HBB GYPA

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



Diseases related to Pyridoxine-Responsive Sideroblastic Anemia

Symptoms & Phenotypes for Pyridoxine-Responsive Sideroblastic Anemia

Drugs & Therapeutics for Pyridoxine-Responsive Sideroblastic Anemia

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

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

Anatomical Context for Pyridoxine-Responsive Sideroblastic Anemia

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

41
Bone, Bone Marrow, Liver

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]. 38
14724775 2004
2
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 38
10577279 1999
3
Pyridoxine-responsive sideroblastic anemia in four children. 38
7626392 1995
4
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 38
8107717 1994
5
X-linked, pyridoxine-responsive sideroblastic anemia. 38
8107723 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. 38
1301172 1992
7
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. 38
1415186 1992
8
Sideroblastic anemia showing unique response to pyridoxine. 38
1793162 1991
9
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia. 38
935887 1976
10
Pyridoxine responsive sideroblastic anemia. 38
4435927 1974
11
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. 38
6054596 1967

Variations for Pyridoxine-Responsive Sideroblastic Anemia

Expression for Pyridoxine-Responsive Sideroblastic Anemia

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

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 10.31 HBB GYPA

GO Terms for Pyridoxine-Responsive Sideroblastic Anemia

Sources for Pyridoxine-Responsive Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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