Genomic coordinate (human 13:77,895,487 EDNRB).
Cytoband (human 13q22.3 EDNRB).
OMIM’ genes @ 13q22.3 = 36 genes.
ClinVar = 497 EDNRB variants reported.
PANTHER Classification is “receptors” PTHR46099:SF3
Swallowtail chromosome-13 is 308 genes.
Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2
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Here I 🎁 present: “EDNRB in Hirschsprung Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (EDNRB)
INTRODUCTION.
Hirschsprung disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung disease are diagnosed in the first year of life.
In medical classification, “Type-1” and “Type-2” Hirschsprung disease typically refer to the two main anatomic categories based on the length of the missing nerve cells (aganglionosis) in the large intestine: short-segment disease (type-1) and long-segment disease (type-2).
The diagram illustrates the developmental pathogenesis and genetic landscape of Hirschsprung disease, focusing on how mutations in the EDNRB (Endothelin Receptor Type-B) gene disrupt normal gastrointestinal tract development.
