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X-linked sideroblastic anemia with ataxia

Synonyms
Anemia sideroblastic and spinocerebellar ataxia; Pagon Bird Detter syndrome; SPINOCEREBELLAR ATAXIA, X-LINKED 6, WITH OR WITHOUT SIDEROBLASTIC ANEMIA; Sideroblastic anemia with spinocerebellar ataxia; X-Linked Sideroblastic Anemia and Ataxia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia (SCAX6) is an X-linked recessive disorder characterized by delayed motor development apparent in infancy with delayed walking (often by several years) due to ataxia and poor coordination. Additional features may include dysmetria, dysarthria, spasticity of the lower limbs, hyperreflexia, dysdiadochokinesis, strabismus, and nystagmus. The disorder is slowly progressive, and patients often lose ambulation. Brain imaging usually shows cerebellar atrophy. Most affected individuals have mild hypochromic, microcytic sideroblastic anemia, which may be asymptomatic. Laboratory studies show increased free erythrocyte protoporphyrin (FEP) and ringed sideroblasts on bone marrow biopsy. Female carriers do not have neurologic abnormalities, but may have subtle findings on peripheral blood smear (Pagon et al., 1985; D'Hooghe et al., 2012). For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500). [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ABC7, ASAT, Atm1p, EST140535, ABCB7
    Summary: ATP binding cassette subfamily B member 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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