Deutsch
IllnessAromatase deficiency
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Aromatase deficiency
ID
AS4901
Number of genes
1
Accredited laboratory test
Examined sequence length
1,6 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 +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| CYP19A1 | 1512 | NM_031226.3 | AR |
Informations about the disease
Clinical Comment
Disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women, tall stature, osteoporosis + obesity in men.
Synonyms
- Alias: CYP19A1-Defizienz
- Alias: Congenital estrogen deficiency
- Allelic: Aromatase excess syndrome (CYP19A1)
- Pseudohermaphroditism female, due to placental aromatase deficiency (CYP19A1)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined