MCID: PYR006
MIFTS: 18

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 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060066
UMLS 73 C0272027

Summaries for Pyridoxine-Responsive Sideroblastic Anemia

MalaCards based summary : Pyridoxine-Responsive Sideroblastic Anemia is related to anemia, sideroblastic, 1 and anemia, sideroblastic, pyridoxine-responsive, autosomal recessive. 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 liver, bone and bone marrow.

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 30.3 ALAS2 HBB TET2
2 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.9
3 sideroblastic anemia 10.5
4 refractory anemia 9.7 ALAS2 TET2
5 atransferrinemia 9.7 ALAS2 TET2
6 hereditary spherocytosis 9.2 GYPA HBB
7 deficiency anemia 9.1 ALAS2 HBB

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
Liver, Bone, Bone Marrow

Publications for Pyridoxine-Responsive Sideroblastic Anemia

Articles related to Pyridoxine-Responsive Sideroblastic Anemia:

# Title Authors Year
1
A novel mutation of the erythroid-specific gamma-aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. ( 10577279 )
1999
2
Pyridoxine-responsive sideroblastic anemia in four children. ( 7626392 )
1995
3
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388- to-Ser substitution in erythroid 5-aminolevulinate synthase. ( 8107717 )
1994
4
X-linked, pyridoxine-responsive sideroblastic anemia. ( 8107723 )
1994
5
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia. ( 935887 )
1976
6
Pyridoxine responsive sideroblastic anemia. ( 4435927 )
1974
7
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. ( 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 GYPA HBB

GO Terms for Pyridoxine-Responsive Sideroblastic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 8.62 HBB TET2

Sources for Pyridoxine-Responsive Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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