MCID: PYR006
MIFTS: 16

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 30 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0060066
UMLS 74 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 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 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 32.4 ALAS2 HBB
2 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 12.1
3 sideroblastic anemia 10.6
4 hereditary spherocytosis 9.6 GYPA HBB
5 deficiency anemia 9.5 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 30

Anatomical Context for Pyridoxine-Responsive Sideroblastic Anemia

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

42
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

Sources for Pyridoxine-Responsive Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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