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IllnessAymé-Gripp syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Aymé-Gripp syndrome containing 11 curated genes according to the clinical signs
ID
AP9993
Number of genes
11
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
32,8 kb (Extended panel: incl. additional genes)
32,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MAF | 1212 | NM_005360.5 | AD | |
| COL11A1 | 5421 | NM_001854.4 | AD | |
| COL11A2 | 5211 | NM_080680.3 | AD | |
| COL2A1 | 4464 | NM_001844.5 | AD | |
| COL9A1 | 2766 | NM_001851.6 | AR | |
| COL9A2 | 2070 | NM_001852.4 | AR | |
| COL9A3 | 2055 | NM_001853.4 | AR | |
| PEX1 | 3852 | NM_000466.3 | AR | |
| PEX12 | 1080 | NM_000286.3 | AR | |
| PEX6 | 2943 | NM_000287.4 | AR | |
| SMAD4 | 1659 | NM_005359.6 | AD |
Informations about the disease
Synonyms
- Aymé-Gripp syndrome (MAF)
- DD: Fine-Lubinsky syndrome: brachycephaly, deafness, cataract, microstomia, ID; gene unknown
- Alias: Cataracts, sensineural deafness, Down-syndrome like face, short stature, mental retardation
- Allelic: Cataract 21, multiple types (MAF)
- Allelic: Czech dysplasia (COL2A1)
- Allelic: Deafness, AD 13 (COL11A2)
- Allelic: Deafness, AD 37 (COL11A1)
- Allelic: Deafness, AR 53 (COL11A2)
- Allelic: Epiphyseal dysplasia, multiple, 2 (COL9A2)
- Allelic: Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
- Allelic: Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Allelic: Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
- Allelic: Fibrochondrogenesis 1 (COL11A1)
- Allelic: Fibrochondrogenesis 2 (COL11A2)
- Allelic: Heimler syndrome 1 (PEX1)
- Allelic: Heimler syndrome 2 (PEX6)
- Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
- Allelic: Kniest dysplasia (COL2A1)
- Allelic: Legg-Calve-Perthes disease (COL2A1)
- Allelic: Lumbar disc herniation, susceptibility to (COL11A1)
- Allelic: Marshall syndrome (COL11A1)
- Allelic: Osteoarthritis with mild chondrodysplasia (COL2A1)
- Allelic: Otospondylomegaepiphyseal dysplasia, AD (COL11A2)
- Allelic: Otospondylomegaepiphyseal dysplasia, AR (COL11A2)
- Allelic: Pancreatic cancer, somatic (SMAD4)
- Allelic: Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
- Allelic: Spondyloepimetaphyseal dysplasia Strudwick type (COL2A1)
- Allelic: Spondyloepiphyseal dysplasia congenita (COL2A1)
- Allelic: Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
- Allelic: Spondyloperipheral dysplasia (COL2A1)
- Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
- Myhre syndrome (SMAD4)
- Peroxisome biogenesis disorder 1A [Zellweger] (PEX1)
- Peroxisome biogenesis disorder 1B [NALD/IRD] (PEX1)
- Peroxisome biogenesis disorder 3A [Zellweger] (PEX12)
- Peroxisome biogenesis disorder 3B (PEX12)
- Peroxisome biogenesis disorder 4A [Zellweger] (PEX6)
- Peroxisome biogenesis disorder 4B (PEX6)
- Polyposis, juvenile intestinal (SMAD4)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
- Stickler syndrome, type II (COL11A1)
- Stickler syndrome, type III [Otospondylomegaepiphyseal dysplasia, AD] (COL11A2)
- Stickler syndrome, type IV (COL9A1)
- Stickler syndrome, type V (COL9A2)
- Stickler syndrome, type VI (COL9A3)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined