©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MVK1191NM_000431.4AR

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