IllnessDysferlinopathy, Differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Dysferlinopathia, differential diagnosis comprising 1 guideline-curated and altogether 39 curated genes according to the clinical signs
ID
DP9254
Number of genes
12
Accredited laboratory test
Examined sequence length
6,3 kb (Core-/Core-canditate-Genes)
136,4 kb (Extended panel: incl. additional genes)
136,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
DYSF | 6243 | NM_003494.4 | AR | |
ANO5 | 2742 | NM_213599.3 | AR | |
DMD | 11058 | NM_004006.3 | XLR | |
FKTN | 1386 | NM_001079802.2 | AR | |
GNE | 2262 | NM_001128227.3 | AR | |
LDB3 | 852 | NM_001080116.1 | AD | |
MATR3 | 2544 | NM_199189.3 | AD | |
MYH7 | 5808 | NM_000257.4 | AD, AR | |
MYOT | 1497 | NM_006790.3 | AD | |
TCAP | 504 | NM_003673.4 | AR | |
TIA1 | 1161 | NM_022173.4 | AD, AR | |
TTN | 100272 | NM_001267550.2 | AR |
Informations about the disease
Synonyms
- Alias: Distale Myopathie des vorderen Kompartiments (DYSF)
- Alias: Distale Myopathie mit Beginn am vorderen Schienenbein (DYSF)
- Allelic: Bardet-Biedl syndrome 11 (TRIM32)
- Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDDB3)
- Allelic: Cardiomyopathy, dilated, 1G (TTN)
- Allelic: Cardiomyopathy, dilated, 1L (SGCD)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Cardiomyopathy, dilated, 3B (DMD)
- Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
- Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
- Allelic: Dowling-Degos disease 4 (POGLUT1)
- Allelic: Dystonia 27 (COL6A3)
- Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
- Allelic: Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
- Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
- Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
- Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
- Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
- Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
- Allelic: Gnathodiaphyseal dysplasia (ANO5)
- Allelic: Left ventricular noncompaction 3 (LDB3)
- Allelic: Left ventricular noncompaction 5 (MYH7)
- Allelic: Miyoshi muscular dystrophy 1 (DYSF)
- Allelic: Miyoshi muscular dystrophy 3 (ANO5)
- Allelic: Miyoshi-Myopathie [Schwäche hinteres Kompartiment distale untere Extremität] (DYSF)
- Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
- Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 8 (POMGNT2)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
- Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
- Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Allelic: Myosclerosis, congenital (COL6A2)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Sialuria (GNE)
- Allelic: Tibial muscular dystrophy, tardive (TTN)
- Amyotrophic lateral sclerosis 21 (MATR3)
- Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
- Becker muscular dystrophy (DMD)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Duchenne muscular dystrophy (DMD)
- Laing distal myopathy (MYH7)
- Miyoshi muscular dystrophy 1 (DYSF)
- Miyoshi muscular dystrophy 3 (ANO5)
- Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
- Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
- Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
- Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
- Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
- Muscular dystrophy, limb-girdle, AR 10 (TTN)
- Muscular dystrophy, limb-girdle, AR 12 (ANO5)
- Muscular dystrophy, limb-girdle, AR 17 (PLEC)
- Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
- Muscular dystrophy, limb-girdle, AR 2 (DYSF)
- Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
- Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
- Muscular dystrophy, limb-girdle, AR 25 (BVES)
- Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
- Muscular dystrophy, limb-girdle, AR 27 (JAG2)
- Muscular dystrophy, limb-girdle, AR 3 (SGCA)
- Muscular dystrophy, limb-girdle, AR 4 (SGCB)
- Muscular dystrophy, limb-girdle, AR 5 (SGCG)
- Muscular dystrophy, limb-girdle, AR 6 (SGCD)
- Muscular dystrophy, limb-girdle, AR 7 (TCAP)
- Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 7 (ISPD)
- Muscular dystrophy-dystroglycanopathy limb-girdle type C, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
- Myopathy, distal, with anterior tibial onset (DYSF)
- Myopathy, myofibrillar, 3 (MYOT)
- Myopathy, myofibrillar, 4 (LDB3)
- Myopathy, myofibrillar, 8 (PYROXD1)
- Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
- Myopathy, myosin storage, AD + AR (MYH7)
- Myopathy, spheroid body (MYOT)
- Nonaka myopathy (GNE)
- Salih myopathy (TTN)
- Scapuloperoneal syndrome, myopathic type (MYH7)
- Tibial muscular dystrophy, tardive (TTN)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
- Welander distal myopathy (TIA1)
Heredity, heredity patterns etc.
- AD
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined