Details of Disease | DrugMAP

General Information of Disease (ID: DISF2733)

Disease Name	Ataxia-pancytopenia syndrome
Synonyms	ATXPC; ataxia-pancytopenia syndrome; myelocerebellar disorder
Definition	A rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.
Disease Hierarchy	DIS17A1W: Hereditary cerebellar ataxia DISF2733: Ataxia-pancytopenia syndrome
Disease Identifiers	MONDO ID MONDO_0008038 MESH ID C563233 UMLS CUI C1327919 OMIM ID 159550 MedGen ID 230896 Orphanet ID 2585 SNOMED CT ID 768556005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SAMD9L	OTKEJUCI	Definitive	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.