Tag: # Victor McKusick

ICD10 Code = G11.1 沙勒瓦-薩格奈痙攣性共濟失調 Genomic coordinate (human 13:23,308,832 SACS). Cytoband (human 13q12.12 SACS). OMIM’ genes @ 13q12.12 = 4 genes. ClinVar = 4,292 SACS variants reported. PANTHER Classification is PTHR15600 “sacsin molecular chaperone”. Cytoband Structure:  WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃   Here I 🎁 present: “Charlevoix–Saguenay … Continue reading “Charlevoix–Saguenay Spastic Ataxia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SACS)

ICD10 Code = E71.121 丙酸血症第1型 Genomic coordinate (human 13:100,089,093 PCCA). Cytoband (human 13q32.3 PCCA). OMIM’ genes @ = 24 genes. PANTHER Classification is Carboxylase / Synthetase PC00067. ClinVar = 1,637 PCCA variants reported. Cytoband Structure: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I 🎁 present: “Propionic … Continue reading “Propionic Acidemia Type-1″丙酸血症第1型, Victor McKusick, Mendelian Inheritance in Man, 1966.

ICD10 Code = C49.9 肺泡狀橫紋肌肉瘤 Genomic coordinate (human 13:40,555,667 FOXO1). Cytoband (human 13q14.11 FOXO1). OMIM’ genes @ 13q14.11 = 12 genes. ClinVar = 87 FOXO1 variants reported. PANTHER Classification is PC00218 “transcription factor” Cytoband Structure: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I present: “Alveolar Rhabdomyosarcoma”, Victor McKusick, … Continue reading “Alveolar Rhabdomyosarcoma 肺泡狀橫紋肌肉瘤 (ARMS)”, Victor McKusick, Mendelian Inheritance in Man, 1966. (FOXO1)

Genomic coordinate (human 13:48,303,751 RB1). Cytoband  (human 13q14.2 RB1). Here I 🎁 present: “RB1 Pleiotropy on 13q14.2″, Victor McKusick, Mendelian Inheritance in Man, 1966. (RB1) The ABOVE infographic illustrates RB1 Pleiotropy on chromosome 13q14.2, demonstrating how abnormalities or mutations in a single gene can produce multiple, seemingly unrelated phenotypic traits or clinical pathologies. Key Elements’ … Continue reading “RB1 Pleiotropy on 13q14.2″, Victor McKusick, Mendelian Inheritance in Man, 1966. (RB1)

ICD10 Code = Q91.7 Swallowtail chromosome-13 is 308 genes. Here I  🎁 present: “Trisomy-13 Polydactyly”, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. The ABOVE image illustrates a Waddington’s epigenetic landscape modified to show how a genetic disruption leads to an altered developmental outcome. Key Concepts in the Diagram.  The Landscape: The rolling surface represents … Continue reading “Trisomy-13 Polydactyly”, Victor McKusick, Mendelian Inheritance in Man, 1966.