Adult-onset autosomal recessive sideroblastic anemia

General Information (adopted from Orphanet):

Synonyms, Signs: GLRX5-related sideroblastic anemia
Number of Symptoms 8
OrphanetNr: 255132
OMIM Id: 205950
ICD-10: D64.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Constitutional sideroblastic anemia
 -Rare genetic disease
 -Rare hematologic disease
Mitochondrial substrate carrier disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001903) Anemia 289 / 7739
2
(HPO:0003281) Increased serum ferritin 32 / 7739
3
(HPO:0003593) Infantile onset 249 / 7739
4
(MedDRA:10027540) Microcytosis 5 / 7739
5
(HPO:0001425) Heterogeneous 132 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Ringed sideroblasts on bone marrow aspirate 2 / 7739
8
(OMIM) Hypochromia 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Manabe et al. (1982) reported a female Japanese infant who was pale from birth and was found to have marked microcytic hypochromic anemia with 29 ringed sideroblasts per 100 nucleated cells in the bone marrow. The M:E ratio ...
Molecular genetics OMIM - SLC25A38 Gene

In 18 patients with autosomal recessive pyridoxine-refractory sideroblastic anemia, Guernsey et al. (2009) identified 11 different homozygous or compound heterozygous mutations in the SLC25A38 gene (see, e.g., 610819.0001-610819.0005). Three unrelated patients who were ...