Deutsch
IllnessACTH deficiency
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion ACTH deficiency
ID
AS0110
Number of genes
1
Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| TBX19 | 1347 | NM_005149.3 | AR |
Informations about the disease
Clinical Comment
Neonatal hypoglycemia, prolonged cholestatic jaundice, seizures, low plasma ACTH + cortisol levels in the absence of structural pituitary defects, sometimes low partial growth hormone deficiency
Synonyms
- Alias: Adrenocorticotropic hormone deficiency (TBX19)
- Congenital isolated ACTH deficiency - CIAD (TBX19)
- DD: Late-onset isolated ACTH deficiency (LIAD), aquired - not inherited
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined