Type 1 | Type 2 | Type 3a | Type 3b | Type 3c | |
Onset | Childhood to adult | First months | Childhood | Childhood | Childhood |
Hematologic | Anemia, thrombocytopenia | Thrombocytopenia | Anemia | More severe anemia and thrombocytopenia | Minimal |
Skeletal | Osteopenia, osteosclerosis, bone pain/crises | Minimal | Osteopenia, osteosclerosis | Severe skeletal findings, including vertebral compression fractures and osteonecrosis of the long bones | Minimal |
Neurologic | Parkinson disease, may have peripheral neuropathy | Strabismus, generalized seizures, hypertonia, apnea, impaired swallow, stridor, progressive loss of milestones | Progressive dementia, ataxia, and myoclonus; slowed horizontal saccades | Slowed horizontal saccades | Slowed horizontal saccades; can have hydrocephalus |
Other systems | Hepatosplenomegaly, hepatic fibrosis, interstitial lung disease, pulmonary hypertension, hematologic malignancies, delayed growth and puberty | Hepatosplenomegaly, congenital ichthyosis | Variable | Hepatosplenomegaly, thoracic lymph node enlargement, pulmonary infiltrates, development of "gaucheromas" or bone cysts, kyphosis/scoliosis | Cardiac and vascular calcifications, mild splenomegaly; can have corneal opacities |
Progression | Slow or none | Rapid | Variable | Variable | Variable |
Pathogenic variant association | Diverse c.1226A>G (N370S allele) | Diverse | Diverse | Diverse | c.1342G>C (homozygosity for D409H) |
Ethnic predilection | More common in Ashkenazi Jews | Panethnic | Panethnic | Panethnic | Panethnic |
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