Tag: # Victor McKusick

Continue reading “Coagulation Factor-II (thrombin)”, Victor McKusick, Mendelian Inheritance in Man, 1966. icd10=D68.2

      Here I 🎁 present: “Pleiotropism of Human Chromosomes”, Victor McKusick, Mendelian Inheritance in Man’, 1966. Pleiotropism is a genetic phenomenon in which a single-gene influences two or more seemingly unrelated phenotype traits. BENEATH is a listing of pleiotropism across the human genome chromosomes: 1-22, XY. 1-chromosome. 1:156,082,573 genomic coordinate. LMNA (lamin A&C). Muscular … Continue reading “Pleiotropism of Human Chromosomes”, Victor McKusick, Mendelian Inheritance in Man, 1966.

Genomic coordinate (human 11:2,159,779 INS). Cytoband (human 11p15.5 INS). Here I present:“Insulin’ 11p15.5-Pleiotropy“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (INS) icd10= The INS gene (insulin’) is located on chromosome 11, cytoband 11p15.5, a region rich in growth-regulation genes and imprinting control elements’. The gene encodes preproinsulin, which is processed to insulin’, the key hormone regulating … Continue reading “Insulin 11p15.5-Pleiotropy”, Victor McKusick, Mendelian Inheritance in Man, 1966. (INS)

Genomic coordinate (human 11:47,331,406 MYPBC3) & (mouse 2:90,948,489 Mypbc3). Cytoband (human 11p11.2 MYPBC3) & (mouse 2qE1 Mypbc3). Here I present: “Familial Cardiomyopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966.  (MYPBC3) icd10=I42.9 Familial cardiomyopathy is an inherited heart muscle disease where genetic mutations cause the heart to become thickened, enlarged, or stiff. This makes it difficult for the heart to pump … Continue reading “Familial Cardiomyopathy”, Victor McKusick,Mendelian Inheritance in Man, 1966. (MYPBC3)  icd10=I42.9

Here I present: “Chester Porphyria”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (PBGD) icd10=E80.29 Chester Porphyria is a hereditary metabolic disorder first identified in a large family (kindred) from Chester, England. It is often described as a “dual porphyria” because it combines the clinical symptoms of Acute Intermittent Porphyria (AIP) with the biochemical markers of … Continue reading “Chester Porphyria”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PBGD) icd10=E80.29