MCID: ANM039
MIFTS: 19

Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

MalaCards integrated aliases for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive:

Name: Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive 56 29
Pyridoxine-Responsive Sideroblastic Anemia 52 71
Sideroblastic Anemia Pyridoxine-Responsive Autosomal Recessive 52
Anemia, Congenital Sideroblastic, B6-Responsive 56
Anemia Congenital Sideroblastic B6-Responsive 52
B6-Responsive Sideroblastic Anemia 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive
x-linked form more common


HPO:

31
anemia, sideroblastic, pyridoxine-responsive, autosomal recessive:
Inheritance x-linked inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 206000
MedGen 41 C1859787
UMLS 71 C0272027

Summaries for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

MalaCards based summary : Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive, also known as pyridoxine-responsive sideroblastic anemia, is related to pyridoxine-responsive sideroblastic anemia and anemia, sideroblastic, 1. Affiliated tissues include bone marrow, bone and liver, and related phenotypes are hepatosplenomegaly and pyridoxine-responsive sideroblastic anemia

More information from OMIM: 206000

Related Diseases for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Diseases in the Pyridoxine-Responsive Sideroblastic Anemia family:

Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive

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

# Related Disease Score Top Affiliating Genes
1 pyridoxine-responsive sideroblastic anemia 13.0
2 anemia, sideroblastic, 1 12.1
3 sideroblastic anemia 10.7
4 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.5
5 deficiency anemia 10.5

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



Diseases related to Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive

Symptoms & Phenotypes for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Human phenotypes related to Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 hepatosplenomegaly 31 HP:0001433
2 pyridoxine-responsive sideroblastic anemia 31 HP:0005522
3 decreased mean corpuscular volume 31 HP:0025066
4 hypochromia 31 HP:0032231

Symptoms via clinical synopsis from OMIM:

56
Heme:
hypochromia
microcytosis
anemia, pyridoxine-responsive
ringed sideroblasts in marrow

Clinical features from OMIM:

206000

Drugs & Therapeutics for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

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

Genetic Tests for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Genetic tests related to Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive:

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

Anatomical Context for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

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

40
Bone Marrow, Bone, Liver

Publications for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Articles related to Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive:

(show all 12)
# Title Authors PMID Year
1
Hereditary sideroblastic anaemia in 4 siblings of a Libyan family--autosomal inheritance. 56
6817577 1982
2
[Vitamin B6-sensitive hereditary sideroblastic anemia]. 61
14724775 2004
3
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia. 61
10577279 1999
4
Pyridoxine-responsive sideroblastic anemia in four children. 61
7626392 1995
5
X-linked, pyridoxine-responsive sideroblastic anemia. 61
8107723 1994
6
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. 61
8107717 1994
7
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
1301172 1992
8
5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells. 61
1415186 1992
9
Sideroblastic anemia showing unique response to pyridoxine. 61
1793162 1991
10
Effect of pyridoxine plus chronic phlebotomy on the function and morphology of bone marrow and liver in pyridoxine-responsive sideroblastic anemia. 61
935887 1976
11
Pyridoxine responsive sideroblastic anemia. 61
4435927 1974
12
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs. 61
6054596 1967

Variations for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Expression for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

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

Pathways for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

GO Terms for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

Sources for Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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