IllnessFukuyama Congenital Muscular Dystrophy, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Fukuyama Congenital Muscular Dystrophy, differential diagnosis, comprising altogether 16 curated genes according to the clinical signs
ID
FP9438
Number of loci
Loci type | Count |
---|---|
Gen | 15 |
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
26,2 kb (Extended panel: incl. additional genes)
26,2 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 |
---|---|---|---|---|
FKTN | 1386 | NM_001079802.2 | AR | |
B3GALNT2 | 1503 | NM_152490.5 | AR | |
B4GAT1 | 1248 | NM_006876.3 | AR | |
CRPPA | 1356 | NM_001101426.4 | AR | |
DAG1 | 2688 | NM_004393.6 | AR | |
FKRP | 1488 | NM_024301.5 | AR | |
GMPPB | 1164 | NM_013334.4 | AR | |
LARGE1 | 2271 | NM_004737.7 | AR | |
LMNA | 1995 | NM_170707.4 | AD, AR | |
POMGNT1 | 1983 | NM_017739.4 | AR | |
POMGNT2 | 1743 | NM_032806.6 | AR | |
POMK | 1053 | NM_032237.5 | AR | |
POMT1 | 2244 | NM_007171.4 | AR | |
POMT2 | 2253 | NM_013382.7 | AR | |
SELENON | 1773 | NM_020451.3 | AR |
Informations about the disease
Synonyms
- Allelic: Cardiomyopathy, dilated, 1A (LMNA)
- Allelic: Cardiomyopathy, dilated, 1X (FKTN)
- Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
- Allelic: Dilated cardiomyopathy (FKTN)
- Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
- Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
- Allelic: Heart-hand syndrome, Slovenian type (LMNA)
- Allelic: Hutchinson-Gilford progeria (LMNA)
- Allelic: Limb-girdle muscular dystrophy type 2M (FKTN)
- Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
- Allelic: Malouf syndrome (LMNA)
- Allelic: Mandibuloacral dysplasia (LMNA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 12 (POMK)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 8 (POMGNT2)
- Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
- Allelic: Restrictive dermopathy, lethal (LMNA)
- Allelic: Retinitis pigmentosa 76 (POMGNT1)
- Allelic: Walker-Warburg syndrome (FKTN)
- Muscular dystrophy, congenital (FKTN)
- Muscular dystrophy, rigid spine, 1 (SELENON)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 10 (RXYLT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 12 (POMK)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 7 (CRPPA)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 8 (POMGNT2)
- Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 9 (DAG1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 1 (POMT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 2 (POMT2)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 3 (POMGNT1)
- Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 6 (LARGE1)
- Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retardation], type B, 5 (FKRP)
- Muscular dystrophy-dystroglycanopathy [cong. without mental retardation], type B, 4 (FKTN)
- Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
- Myopathy, congenital, with fiber-type disproportion (SELENON)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined