ANEMIA, SIDEROBLASTIC, PYRIDOXINE-RESPONSIVE, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: ANEMIA, CONGENITAL SIDEROBLASTIC, B6-RESPONSIVE
Number of Symptoms 8
OrphanetNr:
OMIM Id: 206000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001433) Hepatosplenomegaly 78 / 7739
2
(HPO:0005522) Pyridoxine-responsive sideroblastic anemia 1 / 7739
3
(MedDRA:10027540) Microcytosis 5 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Ringed sideroblasts in marrow 1 / 7739
7
(OMIM) Hypochromia 6 / 7739
8
(OMIM) Anemia, pyridoxine-responsive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: