Disease Index

gene (1p13.3) encoding AMP deaminase 2.

gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has material basis in mutation in the SPG7 gene on chromosome 16q24

hereditary spastic paraplegia that has material basis in mutation in the REEP2 gene on chromosome 5q31

hereditary spastic paraplegia that has material basis in mutation in the CPT1C gene on chromosome 19q13

hereditary spastic paraplegia that has material basis in mutation in the IBA57 gene on chromosome 1q42

hereditary spastic paraplegia that has material basis in mutation in the MAG gene on chromosome 19q13

hereditary spastic paraplegia that has material basis in mutation in the FARS2 gene on chromosome 6p25

hereditary spastic paraplegia that has material basis in mutation in the KIAA0196 gene on chromosome 8q24

human disease

congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape

human disease

human disease

human disease

Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is characterised by moderate thrombocytopenia, abnormal platelet function and the propensity to develop myeloid malignancies, in particular AML

human disease

human disease

human disease

Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S

medical condition

rare disease

Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1

Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13

human disease