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Illness3-Methylglutaconaziduria type 7, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for 3-Methylglutaconaziduria type 7; Caseinolytic Peptidase B Deficiency, containing 1 core gene and altogether 18 curated genes according to the clinical signs

ID
CP9233
Number of genes
17 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
22,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CLPB2034NM_001258392.3AR
AGK1269NM_018238.4AR
ARHGEF91551NM_015185.3XL
AUH1020NM_001698.3AR
DNAJC5597NM_025219.3AD
ELANE804NM_001972.4AD
G6PC31041NM_138387.4AR
GATA11242NM_002049.4XLR
GLRA11350NM_000171.4AD, AR
GLRB1494NM_000824.5AR
GPHN2310NM_020806.5AR, AD
OPA3540NM_025136.4AR, AD
SERAC11965NM_032861.4AR
SLC6A52394NM_004211.5AD, AR
TAFAZZIN879NM_000116.5XLR
TMEM70324NM_001040613.3AR
WAS1509NM_000377.3XLR

Informations about the disease

Clinical Comment

3-Methylglutaconic aciduria represents a group of metabolic disorders that prevent to produce energy in the mitochondria. In consequence 3-methylglutaconic acid builds up and can be detected in the urine.

 

Synonyms
  • Alias: 3-Methylglutaconazidurie-Katarakt-neurologische Beteiligung-Neutropenie-Syndrom
  • Alias: 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome
  • Alias: Caseinolytic Peptidase B Deficiency, type VIIB (CLPB)
  • Allelic: Dursun syndrome (G6PC)
  • Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
  • Allelic: Optic atrophy 3 with cataract (OPA3)
  • 3-methylglutaconic aciduria with deafness, encephalopathy, Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type III (OPA3)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
  • Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
  • Aplastic anemia, susceptibility to (SBDS)
  • Barth syndrome (TAFAZZIN)
  • Cataract 38, AR (AGK)
  • Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
  • Developmental and epileptic encephalopathy 8 (ARHGEF9)
  • Hyperekplexia 1 (GLRA1)
  • Hyperekplexia 2 (GLRB)
  • Hyperekplexia 3 (SLC6A5)
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (TMEM70)
  • Molybdenum cofactor deficiency C (GPHN)
  • Neutropenia, cyclic (ELANE)
  • Neutropenia, severe congenital 1, AD (ELANE)
  • Neutropenia, severe congenital 4, AR (G6PC)
  • Neutropenia, severe congenital, XL (WAS)
  • Sengers syndrome (AGK)
  • Shwachman-Diamond syndrome (SBDS)
  • Thrombocytopenia with beta-thalassemia, XL (GATA1)
  • Thrombocytopenia, XL (WAS)
  • Thrombocytopenia, XL, intermittent (WAS)
  • Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)
  • Wiskott-Aldrich syndrome (WAS)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined