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X-linked sideroblastic anemia - ataxia
1 OMIM reference -
1 associated gene
11 connected diseases
12 signs/symptoms
Disease Type of connection
Erythropoietic protoporphyria
Burkitt lymphoma
Phosphoenolpyruvate carboxykinase 1 deficiency
Precursor T-cell acute lymphoblastic leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ABCB7 O75027300135
Very frequent
- Anaemia
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- X-linked recessive inheritance

Frequent
- Hypereflexia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Movement disorder

Occasional
- Hypotonia
- Intrauterine growth retardation
- Scoliosis
- Strabismus / squint