Here I present: “Hirschsprung Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=Q43.1 (HSCR3).
INTRODUCTION.
Hirschsprung disease (HSCR) 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. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
There is evidence that susceptibility to Hirschsprung disease type-3 (HSCR3) is associated with variation in the glial cell line derived neurotrophic factor (GDNF) gene on cytogenetic location 5p13.2 and genomic coordinates 5:37,812,677-37,840,041. The screenshot of the GDNF gene 27,365 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GDNF in the 5p13.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:36,876,769 | NIPBL | Nipped-B-like (delangin) |
| 5:37,075,669 | CPLANE1 | Ciliogenesis and planar polarity effector complex 1 |
| 5:37,288,137 | NUP155 | Nucleoporin, 155kD |
| 5:37,379,318 | WDR70 | WD repeat-containing protein 70 |
| 5:37,812,677 | GDNF | Glial cell line derived neurotrophic factor |
| 5:38,258,559 | EGFLAM | EGF-like, fibronectin type III, and laminin G protein |
| 5:38,400,001 | IBD18 | Inflammatory bowel disease 18 |
| 5:38,474,668 | LIFR | Leukemia inhibitory factor receptor |
| 5:38,846,012 | OSMR | Oncostatin M receptor |
| 5:38,937,920 | RICTOR | Rapamycin-insensitive campion of mTOR |
