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IllnessPeroxisome biogenesis disorders, large panel; differential diagnosis

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Summary

Short information

Comprehensive curated differential diagnostic panel for Peroxisome biogenesis disorders comprising 35 core candidate genes according to the clinical signs

ID
PP0509
Number of genes
35 Accredited laboratory test
Examined sequence length
53,8 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
ABCD12238NM_000033.4XLR
ACBD51473NM_001042473.4AR
ACOX11869NM_004035.7AR
AGK1269NM_018238.4AR
AGPS1977NM_003659.4AR
AGXT1179NM_000030.3AR
AMACR1185NM_001167595.2AR
ARSL1780NM_000047.3XLR
CAT1584NM_001752.4AD, AR
DNM1L2211NM_012062.5AD, AR
DYM2010NM_017653.6AR
EBP693NM_006579.3XL
FAR11548NM_032228.6AR
GNPAT2043NM_014236.4AR
GRHPR987NM_012203.2AR
HOGA1984NM_138413.4AR
HSD17B42211NM_000414.4AR
NSDHL1122NM_015922.3XL
PEX13852NM_000466.3AR
PEX101041NM_153818.2AR
PEX11B780NM_003846.3AR
PEX121080NM_000286.3AR
PEX131212NM_002618.4AR
PEX141134NM_004565.3AR
PEX161011NM_004813.4AR
PEX19900NM_002857.4AR
PEX2918NM_000318.3AR
PEX26918NM_017929.6AR
PEX31122NM_003630.3AR
PEX51920NM_001131025.2AR
PEX62943NM_000287.4AR, AD
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
SCP21644NM_002979.5AR
TRIM372895NM_015294.6AR

Informations about the disease

Clinical Comment

Group of AR disorders affecting the formation of functional peroxisomes with sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction, psychomotor impairment, is comprised of phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease

 

Synonyms
  • Alias: Infantile Refsum disease
  • Alias: Neonatal adrenoleukodystrophy
  • Alias: Peroxisomal biogenesis disturbances
  • Alias: Peroxisome biogenesis disorder spectrum
  • Allelic: Cataract 38, AR (AGK)
  • Allelic: MEND syndrome (EBP)
  • Allelic: Mitchell syndrome (ACOX1)
  • Allelic: Optic atrophy 5 (DNM1L)
  • Allelic: Perrault syndrome 1 (HSD17B4)
  • Acatalasemia (CAT)
  • Adrenoleukodystrophy (ABCD1)
  • Adrenomyeloneuropathy, adult (ABCD1) D-bifunctional protein deficiency (HSD17B4)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Bile acid synthesis defect, congenital, 4 (AMACR)
  • CHILD syndrome (NSDHL)
  • CK syndrome (NSDHL)
  • Chondrodysplasia punctata, XLD (EBP)
  • Chondrodysplasia punctata, XLR (ARSL)
  • Dyggve-Melchior-Clausen disease (DYM)
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
  • Heimler syndrome 1 [Peroxisome biogenesis disorder 1C] (PEX1)
  • Heimler syndrome 2 [Peroxisome biogenesis disorder 4C] (PEX6)
  • Hyperoxaluria, primary, type 1 (AGXT)
  • Hyperoxaluria, primary, type II (GRHPR)
  • Hyperoxaluria, primary, type III (HOGA1)
  • Krabbe disease (GALC)
  • Leukoencephalopathy with dystonia and motor neuropathy (SCP2)
  • Metachromatic leukodystrophy (ARSA)
  • Mulibrey nanism (TRIM37)
  • Peroxisomal acyl-CoA oxidase deficiency (ACOX1)
  • Peroxisomal fatty acyl-CoA reductase 1 disorder (FAR1)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 10B (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 11B (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 14B (PEX11B)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 2B (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 3B (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 4B (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 5B (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 6B (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 7B (PEX26)
  • Peroxisome biogenesis disorder 8A [Zellweger] (PEX16)
  • Peroxisome biogenesis disorder 8B (PEX16)
  • Peroxisome biogenesis disorder 9B (PEX7)
  • Refsum disease (PHYH)
  • Retinal dystrophy with leukodystrophy (ACBD5)
  • Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Rhizomelic chondrodysplasia punctata, type 2 (GNPAT)
  • Rhizomelic chondrodysplasia punctata, type 3 (AGPS)
  • Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Sengers syndrome (AGK)
  • Smith-McCort dysplasia (DYM)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined