Deutsch
IllnessMukopolysaccharidosen, Differentialdiagnose II
Summary
Short information
Comprehensive differential diagnostic panel for Mucopolysaccharidoses comprising 20 curated genes according to the clinical signs
ID
MP0401
Number of loci
| Loci type | Count |
|---|---|
| Gen | 22 |
Examined sequence length
23,2 kb (Core-/Core-canditate-Genes)
45,9 kb (Extended panel: incl. additional genes)
45,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ARSB | 1602 | NM_000046.5 | AR | |
| GALNS | 1569 | NM_000512.5 | AR | |
| GLB1 | 2034 | NM_000404.4 | AR | |
| GNPTAB | 3771 | NM_024312.5 | AR | |
| GNS | 1659 | NM_002076.4 | AR | |
| GUSB | 1956 | NM_000181.4 | AR | |
| HGSNAT | 1908 | NM_152419.3 | AR | |
| HYAL1 | 1308 | NM_153281.2 | AR | |
| IDS | 1653 | NM_000202.8 | XLR | |
| IDUA | 1962 | NM_000203.5 | AR | |
| NAGLU | 2232 | NM_000263.4 | AR | |
| SGSH | 1509 | NM_000199.5 | AR | |
| COL2A1 | 4464 | NM_001844.5 | AD | |
| GLA | 1290 | NM_000169.3 | XL | |
| GNPTG | 918 | NM_032520.5 | AR | |
| MAN2B1 | 3036 | NM_000528.4 | AR | |
| NEU1 | 1248 | NM_000434.4 | AR | |
| PSAP | 1575 | NM_002778.4 | AR | |
| RAI1 | 5721 | NM_030665.4 | AD | |
| SMARCAL1 | 2865 | NM_001127207.2 | AR | |
| SUMF1 | 1125 | NM_182760.4 | AR | |
| TRAPPC2 | 423 | NM_001011658.4 | XLR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_MP0401
Synonyms
- Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
- Allelic: Lewy body dementia, susceptibility to (GBA)
- Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
- Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
- Allelic: Retinitis pigmentosa 73 (HGSNAT)
- Combined SAP deficiency (PSAP)
- Fabry disease (GLA)
- Fabry disease, cardiac variant (GLA)
- GM1-gangliosidosis type I-III (GLB1)
- Gaucher disease, atypical (PSAP)
- Gaucher disease, perinatal lethal (GBA)
- Gaucher disease, type I, II, III, IIIC (GBA)
- Krabbe disease, atypical (PSAP)
- Mannosidosis, alpha-, types I + II (MAN2B1)
- Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
- Mucolipidosis II alpha/beta (GNPTAB)
- Mucolipidosis III alpha/beta (GNPTAB)
- Mucolipidosis IV (MCOLN1)
- Mucopolysaccharidosis type II, Hunter syndrome (IDS)
- Mucopolysaccharidosis type IIIA, Sanfilippo A (SGSH)
- Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
- Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
- Mucopolysaccharidosis type IIID, Sanfilippo syndrome D (GNS)
- Mucopolysaccharidosis type IVA (GALNS)
- Mucopolysaccharidosis type IVB, Morquio (GLB1)
- Mucopolysaccharidosis type IX (HYAL1)
- Mucopolysaccharidosis type Ih/s, Hurler-Scheie syndrome+ Is, Scheie syndrome (IDUA)
- Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
- Mucopolysaccharidosis type VII, Sly syndrome (GUSB)
- Mucopolysaccharidosis type X (ARSK)
- Mucopolysaccharidosis-plus syndrome (VPS33A)
- Multiple sulfatase deficiency (SUMF1)
- Osteoarthritis with mild chondrodysplasia (COL2A1)
- Schimke immunoosseous dysplasia (SMARCAL1)
- Sialidosis, type I (NEU1)
- Sialidosis, type II (NEU1)
- Smith-Magenis syndrome (RAI1)
- Spondyloepiphyseal dysplasia tarda (TRAPPC2)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined