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