FaCD Online Syndrome Fact Sheet

Last updated: 23 Apr 2009

Name: Ataxia Pancytopenia syndrome

Synonym: Myelocerebellar disorder

Mode of Inheritance: AD

OMIM number: 159550  


TINF2, mapped to 4q12

Tumor features

lung hemangioma

Non-tumor features

bone marrow monosomy 7 karyotype
cerebellar ataxia
nerve conduction velocity, reduced


This condition is characterized by pancytopenia, progressive cerebellar ataxia, reduced nerve conduction speed and acute myelomonocytic leukemia, which all develop in early childhood. The hypoplastic bone marrow shows cells with a monosomy 7 karyotype. [1-3]


[1] Li FP, Hecht F, Kaiser-McCaw B, Baranko PV, Potter NU. Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia. Cancer Genet Cytogenet 1981; 4:189-196.
[2] Daghistani D, Curless R, Toledano SR, Ayyar DR. Ataxia-pancytopenia and monosomy 7 syndrome. J Pediat 1989; 115(1):108-110.
[3] Gonzalez-del Angel A, Cervera M, Gomez L, Perez-Vera P, Orozco L, Carnevale A, del Castillo V. Ataxia-pancytopenia syndrome. Am J Med Genet 2000; 90(3):252-254.