IllnessHyper-IgD syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Hyper-IgD syndrome
ID
HS0870
Number of genes
1
Accredited laboratory test
Examined sequence length
1,2 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 |
---|---|---|---|---|
MVK | 1191 | NM_000431.4 | AR |
Informations about the disease
Clinical Comment
Autoinflammatory disease with periodic fever attacks, a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias, skin signs).
Synonyms
- Allelic: Mevalonic aciduria (MVK)
- Allelic: Partial mevalonate kinase deficiency (MVK)
- Allelic: Porokeratosis 3, multiple types (MVK)
- Hyper-IgD syndrome, HIDS
- Hyperimmunglobulinemia D and periodic fever syndrome (MVK)
- Hyperimmunoglobinemia D with recurrent fever (MVK)
- Hyperimmunoglobulinemia D syndrome (MVK)
- Hyperimmunoglobulinemia D with periodic fever (MVK)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined