About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome

Diagnosis
Diagnosis of oculocerebrorenal syndrome can be done via genetic testing Among the different investigations that can de done are:
Urinalysis
MRI
Blood test

Treatment
In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:
Glaucoma control (via medication)
Nasogastric tube feeding
Physical therapy
Clomipramine
Potassium citrate

Epidemiology
Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people. History
It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome. See also
List of congenital disorders

References
Further reading
Bökenkamp, Arend; Ludwig, Michael (1 January 2016). "The oculocerebrorenal syndrome of Lowe: an update". Pediatric Nephrology (Berlin, Germany). 31 (12): 2201–2212. doi:10.1007/s00467-016-3343-3. ISSN 0931-041X. PMC 5118406. PMID 27011217. == External links ==
However, other thyroid diseases such as multinodular goitre, Hashimoto thyroiditis, thyroid adenoma, and thyroid carcinoma also retains the radiotracer because of high metabolic nature of these diseases. Thus, the final diagnosis always requires pathological examination of the tissue in question. Treatment
Parathyroid carcinoma is sometimes diagnosed during surgery for primary hyperparathyroidism. If the surgeon suspects carcinoma based on severity or invasion of surrounding tissues by a firm parathyroid tumor, aggressive excision is performed, including the thyroid and surrounding tissues as necessary.Agents such as calcimimetics (for example, cinacalcet) are used to mimic calcium and are able to activate the parathyroid calcium-sensing receptor (making the parathyroid gland "think" we have more calcium than we actually do), therefore lowering the calcium level, in an attempt to decrease the hypercalcemia. References
External links
Parathyroid cancer entry in the public domain NCI Dictionary of Cancer Terms
Parathyroid Carcinoma (Medscape eMedicine)
Cancer Management Handbook: Thyroid and Parathyroid Cancers
 This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms".