SIDBA4
MCID: ANM034
MIFTS: 20

Anemia, Sideroblastic, 4 (SIDBA4)

Categories: Blood diseases, Bone diseases, Cancer diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Anemia, Sideroblastic, 4

MalaCards integrated aliases for Anemia, Sideroblastic, 4:

Name: Anemia, Sideroblastic, 4 57 72 29 6
Sidba4 57 72
Anemia, Sideroblastic, Type 4 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant (another allele in trans may be required)

Miscellaneous:
the presence of an hspa9 variant in trans may be required for expression of the clinical phenotype (pseudodominant inheritance)


HPO:

31
anemia, sideroblastic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 182170
OMIM Phenotypic Series 57 PS300751
MeSH 44 D000756

Summaries for Anemia, Sideroblastic, 4

OMIM® : 57 Sideroblastic anemia comprises a heterogeneous group of inherited and acquired disorders characterized by ineffective erythropoiesis. Anemia, if present, may be microcytic or macrocytic. Sometimes a dimorphic picture is observed in which 2 populations of erythrocytes can be detected in peripheral blood smears. The presence of ringed sideroblasts (erythroblasts containing pathologic mitochondrial iron deposits) in bone marrow is pathognomonic for sideroblastic anemia (van Waveren Hogervorst et al., 1987; Schmitz-Abe et al., 2015). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). (182170) (Updated 20-May-2021)

MalaCards based summary : Anemia, Sideroblastic, 4, is also known as sidba4. An important gene associated with Anemia, Sideroblastic, 4 is HSPA9 (Heat Shock Protein Family A (Hsp70) Member 9). Affiliated tissues include bone marrow and bone, and related phenotypes are refractory anemia with ringed sideroblasts and sideroblastic anemia

UniProtKB/Swiss-Prot : 72 Anemia, sideroblastic, 4: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families.

Related Diseases for Anemia, Sideroblastic, 4

Symptoms & Phenotypes for Anemia, Sideroblastic, 4

Human phenotypes related to Anemia, Sideroblastic, 4:

31
# Description HPO Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 31 HP:0004828
2 sideroblastic anemia 31 HP:0001924

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
sideroblastic anemia
red blood cells may be microcytic or macrocytic
dimorphic appearance of red cells on smear (in some patients)
bimodal erythrocyte volume distribution curve (in some patients)
ringed sideroblasts in bone marrow

Clinical features from OMIM®:

182170 (Updated 20-May-2021)

Drugs & Therapeutics for Anemia, Sideroblastic, 4

Search Clinical Trials , NIH Clinical Center for Anemia, Sideroblastic, 4

Genetic Tests for Anemia, Sideroblastic, 4

Genetic tests related to Anemia, Sideroblastic, 4:

# Genetic test Affiliating Genes
1 Anemia, Sideroblastic, 4 29 HSPA9

Anatomical Context for Anemia, Sideroblastic, 4

MalaCards organs/tissues related to Anemia, Sideroblastic, 4:

40
Bone Marrow, Bone

Publications for Anemia, Sideroblastic, 4

Articles related to Anemia, Sideroblastic, 4:

# Title Authors PMID Year
1
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. 57 6
26491070 2015
2
Hereditary sideroblastic anaemia and autosomal inheritance of erythrocyte dimorphism in a Dutch family. 6 57
3653362 1987
3
Autosomal inheritance of sideroblastic anaemia. 57
3180700 1988

Variations for Anemia, Sideroblastic, 4

ClinVar genetic disease variations for Anemia, Sideroblastic, 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HSPA9 NM_004134.7(HSPA9):c.409_410del (p.Asp136_Ile137insTer) Deletion Pathogenic 224069 rs763817505 GRCh37: 5:137906649-137906650
GRCh38: 5:138570960-138570961
2 HSPA9 NM_004134.7(HSPA9):c.1373_1378del (p.Ile458_Asn459del) Deletion Pathogenic 224070 rs869312659 GRCh37: 5:137895585-137895590
GRCh38: 5:138559896-138559901

Expression for Anemia, Sideroblastic, 4

Search GEO for disease gene expression data for Anemia, Sideroblastic, 4.

Pathways for Anemia, Sideroblastic, 4

GO Terms for Anemia, Sideroblastic, 4

Sources for Anemia, Sideroblastic, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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