SIDBA4
MCID: ANM034
MIFTS: 20

Anemia, Sideroblastic, 4 (SIDBA4)

Categories: Blood diseases, Bone 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 75 29 6
Sidba4 57 75
Anemia, Sideroblastic, Type 4 40

Characteristics:

OMIM:

57
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:

32
anemia, sideroblastic, 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 182170
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)

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

UniProtKB/Swiss-Prot : 75 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

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Sideroblastic Anemia Acquired
Autosomal Recessive Sideroblastic Anemia

Diseases related to Anemia, Sideroblastic, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 even-plus syndrome 9.7 LOC105379193 HSPA9

Symptoms & Phenotypes for Anemia, Sideroblastic, 4

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Anemia, Sideroblastic, 4:

32
# Description HPO Frequency HPO Source Accession
1 refractory anemia with ringed sideroblasts 32 HP:0004828
2 sideroblastic anemia 32 HP:0001924

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:

41
Bone, Bone Marrow

Publications for Anemia, Sideroblastic, 4

Variations for Anemia, Sideroblastic, 4

ClinVar genetic disease variations for Anemia, Sideroblastic, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HSPA9 NM_004134.6(HSPA9): c.409_410delAT (p.Ile137Terfs) deletion Pathogenic rs763817505 GRCh38 Chromosome 5, 138570960: 138570961
2 HSPA9 NM_004134.6(HSPA9): c.409_410delAT (p.Ile137Terfs) deletion Pathogenic rs763817505 GRCh37 Chromosome 5, 137906649: 137906650
3 HSPA9 NM_004134.6(HSPA9): c.1373_1378delTTAATA (p.Ile458_Asn459del) deletion Pathogenic rs869312659 GRCh38 Chromosome 5, 138559896: 138559901
4 HSPA9 NM_004134.6(HSPA9): c.1373_1378delTTAATA (p.Ile458_Asn459del) deletion Pathogenic rs869312659 GRCh37 Chromosome 5, 137895585: 137895590

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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