IllnessRefsum syndrome, adult, Zellweger syndrome included; differential diagnosis
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)
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
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
AMACR | 1185 | NM_001167595.2 | AR | |
PEX1 | 3852 | NM_000466.3 | AR | |
PEX10 | 1041 | NM_153818.2 | AR | |
PEX12 | 1080 | NM_000286.3 | AR | |
PEX13 | 1212 | NM_002618.4 | AR | |
PEX16 | 1011 | NM_004813.4 | AR | |
PEX2 | 918 | NM_000318.3 | AR | |
PEX26 | 918 | NM_017929.6 | AR | |
PEX5 | 1920 | NM_001131025.2 | AR | |
PEX6 | 2943 | NM_000287.4 | AR | |
PEX7 | 972 | NM_000288.4 | AR | |
PHYH | 1017 | NM_006214.4 | AR | |
PEX11B | 780 | NM_003846.3 | AR | |
PEX14 | 1134 | NM_004565.3 | AR | |
PEX19 | 900 | NM_002857.4 | AR | |
PEX3 | 1122 | NM_003630.3 | AR |
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