What is tg (Thyroglobulin) ? Thyroglobulin is a glycoprotein. It is the precursor to the thyroid hormones which are T3 (triiodothyronine) and T4 (tetraiodothyronine). This glycoprotein constitutes a molecular mass of 660 kD. This has 2 identical subunits, but the complete hydrolysis of this protein generates only 2 to 4 molecules of both T3 and …
What is Hallermann Streiff Syndrome (HSS) Hallermann Streiff syndrome is a rare congenital disorder which typically affects the development of head and face. The hallmarks of Hallermann Streiff Syndrome affected individuals are typical a ‘bird-like’ face with craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. HSS was first …
What is cpz (Carboxypeptidase Z) cpz is located on the chromosome 4p16.1 cpz is a newly reported member of the CPE, which is the subfamily of metallocarboxypeptidases. Carboxypeptidase Z was discovered during a search for novel carboxypeptidases which can compensate for defective carboxypeptidase E in Cpe mice. Members of this metallocarboxypeptidases constitutes a 350 to 400 …
cpz (Carboxypeptidase Z) – Responsible for 4 diseases, Interesting facts Read More »
What is Tietze Syndrome Tietze syndrome is a rare disease which involves the swelling of soft tissues around the rib known as cartilage. It is an inflammatory disorder. The affected individuals will have chest pain and swelling at the the upper ribs (usually the costochondral junction), more specifically where the ribs attach to the breastbone …
What is Ehlers Danlos Syndrome (EDS) Ehlers Danlos Syndrome are a group of related disorders. The etiology of EDS is due to various genetic defects in the collagen. Collagen is one of the major structural components of the body. Poor strength of collagen is responsible for the symptoms in patients with Ehlers Danlos Syndrome. Ehlers-Danlos …
Ehlers Danlos Syndrome (EDS) – 13 Subtypes, Interesting Facts, Symptoms, Prognosis Read More »
Reviewed by Dr Shakthi What is Stromme Syndrome (STROMS) Stromme Syndrome is a rare congenital disease. This Syndrome is an autosomal recessive congenital disorder which affects multiple organ systems This affect on the multiple organ systems in the body results in various clinical symptoms and signs. The onset of Stromme Syndrome is in uteroEarly childhood …
Stromme Syndrome (STROMS) – 48 Symptoms and signs, Interesting Facts, Prognosis Read More »
What is Pituitary resistance to thyroid hormone (PRTH) This congenital genetic disorder results in continued thyroid-stimulating hormone (TSH) production driving hypersecretion of T3 and T4 hormones to establish a new equilibrium, with high serum levels of free thyroid hormones together with a nonsuppressed Thyroid stimulating hormone (TSH). This condition is caused by mutation in the …