The 42-year-old proband had obvious juvenile cataracts, mild hepatosplenomegaly, and an extremely low level of HDL-C (1 mg/dl), consistent with the diagnosis of TD. [ncbi.nlm.nih.gov]

At 53 years old, 15 months after surgery, the patient reported intermittent claudication, coldness of feet, and impotence. Aortic angiography showed progression of the stenosis at the bifurcation of the common iliac artery. [ncbi.nlm.nih.gov]

Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD). [ncbi.nlm.nih.gov]

One easily visual characteristic usually found in children with Tangier disease is the presence of enlarged, yellow-orange tonsils. [www-personal.umd.umich.edu]

yellow-orange tonsils Enlarged liver Enlarged spleen Premature cardiovascular disease People who are classified as having heterozygous Tangier disease, on the other hand, only have one copy of the mutated gene. [verywellhealth.com]

A Tangier-like PA and DG formation pattern could be induced in normal cells after preincubation with pertussis toxin, suggesting the involvement of a G-protein. [ncbi.nlm.nih.gov]

A 57-year old male with a past medical history of hypertension, coronary artery disease and splenectomy admitted to our hospital for rectal bleeding. In routine laboratory tests thrombocytopenia, hypocholesterolemia and low HDL levels were detected. [ncbi.nlm.nih.gov]

RT-PCR amplification of four overlapping DNA fragments, using the following primers pairs: ( i ) 75S (5′-CTA CCC ACC CTA TGA ACA AC-3′) and 2561R (5′-CTC TTC TCA TCA CTT TCC TC-3′), ( ii ) 1991S (5′-GCT GGT TCA TTA GTA GCC TCA-3′) and 3731R (5′-CCA TCT GAG [pnas.org]

The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia. This family demonstrates the wide intrafamilial phenotype diversity of TD. [ncbi.nlm.nih.gov]

In atypical cases, patients can also show signs of corneal opacity. [orpha.net]

The main clinical feature in this case is corneal opacity which has given name to the disease as “Fish eyes disease” (Table 2). [endocrinologiapediatrica.org]

The brain magnetic resonance imaging (MRI) of a juvenile man with acute onset of sudden right limb weakness and speechlessness revealed infarct lesions. [ncbi.nlm.nih.gov]