Deutsch
IllnessGrowth hormone deficiency type VI
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Growth hormone deficiency type IB, congenital isolated
ID
WS1230
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 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 |
|---|---|---|---|---|
| GHRHR | 1272 | NM_000823.4 | AR |
Informations about the disease
Clinical Comment
AR IGHD type IV: early + severe growth failure (height SDS up to -7.4), a blunted GH response to provocation tests, low insulin-like growth factor-I, low IGF-binding protein-3, good response to GH treatment
Synonyms
- Congenital isolated growth hormone deficiency type IV (GHRHR)
- Dwarfism of Sindh (GHRHR)
- Growth hormone deficiency, isolated, type IV (GHRHR)
- Isolated growth hormone deficiency, type IB (GHRHR)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined