Category: Chromosome

  Continue reading “Hereditary Angioedema”, Victor MbcKusick, Mendelian Inheritance in Man, 1966. (SERPING1) icd10=D84.1

Here I present: “Amyloidosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=E85.9 Amyloidosis (icd10=E85.9) is a group of diseases in which abnormal proteins, known as amyloid fibrils, build up in tissue. There are several non-specific and vague signs and symptoms associated with amyloidosis. There are about 36 different types of amyloidosis, each due to a … Continue reading “Amyloidosis”, Victor Mendelian Inheritance in Man, 1966. icd10=E85.9

  Genomic coordinate (human 11:31,789,026 PAX6) & (mouse 2:105,499,245 Pax6). Cytoband (human 11p13 PAX6) & (mouse 2q Pax6). Here I present: “Aniridia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PAX6) icd10=Q13.1 Aniridia is a congenital (present at birth) pan-ocular disorder where the iris is partially or almost completely absent. Even though the name literally means … Continue reading “Aniridia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PAX6) icd10=Q13.1

  Here I present: “Cerebellar Ataxia Telangiectasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ATM) icd10=G11.3 Cerebellar Ataxia Telangiectasia, (AT) is an inherited neurodegenerative disorder appearing in early childhood. It is caused by mutations in the ATM gene, leading to progressive loss of coordination (ataxia), dilated blood vessels (telangiectasias) in eyes/skin, immune system deficiencies, and high cancer … Continue reading “Cerebellar Ataxia Telangiectasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ATM) icd10=G11.3

  Continue reading “Recessive Severe Usher Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=Q99.811