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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessRefsum syndrome, adult, Zellweger syndrome included; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Refsum syndrome Zellweger (syndrome included) comprising 2 guideline-curated and altogether 16 curated genes according to the clinical signs

ID
RP0010
Number of genes
16 Accredited laboratory test
Examined sequence length
18,1 kb (Core-/Core-canditate-Genes)
22,1 kb (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
AMACR1185NM_001167595.2AR
PEX13852NM_000466.3AR
PEX101041NM_153818.2AR
PEX121080NM_000286.3AR
PEX131212NM_002618.4AR
PEX161011NM_004813.4AR
PEX2918NM_000318.3AR
PEX26918NM_017929.6AR
PEX51920NM_001131025.2AR
PEX62943NM_000287.4AR
PEX7972NM_000288.4AR
PHYH1017NM_006214.4AR
PEX11B780NM_003846.3AR
PEX141134NM_004565.3AR
PEX19900NM_002857.4AR
PEX31122NM_003630.3AR

Informations about the disease

Clinical Comment

Metabolic disease with anosmia, cataract, early-onset retinitis pigmentosa, possible neurological manifestations as peripheral neuropathy, cerebellar ataxia, deafness; ichthyosis, skeletal abnormalities, cardiac arrhythmia; accumulation of phytanic acid in plasma + tissues

PEX7 mutations: rhizomelic chondrodysplasia punctata type 1, severe/often lethal, intellectual disability, rhizomelic shortening of the upper extremities, dwarfism, cataract. Mild variants -> Refsum disease

 

Synonyms
  • Alias: Classic Refsum disease = Adult Refsum disease
  • Alias: Heredopathia atactica polyneuritiformis = HMSN4
  • Allelic: Bile acid synthesis defect, congenital, 4 (AMACR)
  • Allelic: Heimler syndrome 1 (PEX1)
  • Allelic: Heimler syndrome 2 (PEX6)
  • Allelic: Peroxisome biogenesis disorder 10B (PEX3)
  • Allelic: Peroxisome biogenesis disorder 11B (PEX13)
  • Allelic: Peroxisome biogenesis disorder 14B (PEX11B)
  • Allelic: Peroxisome biogenesis disorder 1B [NALD/IRD] (Pex1)
  • Allelic: Peroxisome biogenesis disorder 2B (PEX5)
  • Allelic: Peroxisome biogenesis disorder 3B (PEX12)
  • Allelic: Peroxisome biogenesis disorder 4B (PEX6)
  • Allelic: Peroxisome biogenesis disorder 5B (PEX2)
  • Allelic: Peroxisome biogenesis disorder 6B (PEX10)
  • Allelic: Peroxisome biogenesis disorder 7B (PEX26)
  • Allelic: Peroxisome biogenesis disorder 8B (PEX16)
  • Allelic: Peroxisome biogenesis disorder 9B (PEX7)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 1 (PEX7)
  • Allelic: Rhizomelic chondrodysplasia punctata, type 5 (PEX5)
  • Alpha-methylacyl-CoA racemase deficiency (AMACR)
  • Peroxisome biogenesis disorder 10A [Zellweger] (PEX3)
  • Peroxisome biogenesis disorder 11A [Zellweger] (PEX13)
  • Peroxisome biogenesis disorder 12A [Zellweger] (PEX19)
  • Peroxisome biogenesis disorder 13A [Zellweger] (PEX14)
  • Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
  • Peroxisome biogenesis disorder 2A [Zellweger] (PEX5)
  • Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
  • Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
  • Peroxisome biogenesis disorder 5A [Zellweger] (PEX2)
  • Peroxisome biogenesis disorder 6A [Zellweger] (PEX10)
  • Peroxisome biogenesis disorder 7A [Zellweger] (PEX26)
  • Peroxisome biogenesis disorder 8A (Zellweger] (PEX16)
  • Refsum disease = Phytanic acid oxidase deficiency (PHYH)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.1

Bioinformatics and clinical interpretation

No text defined