Genomic coordinate 1:168,280,877
Here I present: “Adrenocorticotropic Hormone Deficiency”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ACTH) icd10=E27.1
INTRODUCTION.
Adrenocorticotropic hormone deficiency (ACTH) is a disorder characterized by secondary adrenal insufficiency with minimal or no cortisol production and normal pituitary hormone secretion apart from ACTH.
ACTH deficiency may be congenital or acquired, and its symptoms are clinically similar to those of glucocorticoid deficiency. Symptoms consist of weight loss, diminished appetite, muscle weakness, nausea, vomiting, and hypotension.
Adrenocorticotropic hormone deficiency is characterized by severe hypoglycemia in the neonatal period, associated with seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to corticotropin-releasing hormone (CRH). Plasma cortisol levels are also extremely low. T-Box19 (TBX19) is required for initiation of transcription of the POMC gene which produces the precursor peptide from which ACTH is derived.
There is evidence adrenocorticotropic hormone deficiency is caused by homozygous or compound heterozygous mutation in the TBX19 gene on cytogenetic location 1q24.2 and genomic coordinates 1:168,280,877-168,314,426. The screenshot of the TBX19 gene 33,550 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides TBX19 in the 1q24.4 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 1:167,863,576 | DCAF6 | DDB1 and CUL4 associated factor 6 |
| 1:167,916,675 | MPC2 | Mitochondrial pyruvate carrier 2 |
| 1:168,079,542 | GPR161 | G protein-coupled receptor 161 |
| 1:168,178,962 | TIPRL | TIP41-like protein |
| 1:168,280,877 | TBX19 | T-box 19 |
| 1:168,540,768 | XCL2 | Chemokine, C motif, ligand 2 |
| 1:168,576,605 | XCL1 | Chemokine, C motif, ligand 1 (lymphotactin) |
| 1:168,695,468 | DPT | Dermatopontin |
| 1:169,106,690 | ATP1B1 | ATPase, Na+K+ transporting, beta-1 polypeptide |
| 1:169,132,531 | NME7 | NME/NM23 family, member 7 |
