IllnessArachnodactyly, congenital contractural; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Arachnodactyly, congenital contractura, comprising altogether 32 curated genes according to the clinical signs
ID
AP9239
Number of genes
31
Accredited laboratory test
Examined sequence length
8,8 kb (Core-/Core-canditate-Genes)
114,1 kb (Extended panel: incl. additional genes)
114,1 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 |
---|---|---|---|---|
FBN2 | 8739 | NM_001999.4 | AD | |
CBS | 1656 | NM_000071.3 | AR | |
COL11A1 | 5421 | NM_001854.4 | AD | |
COL11A2 | 5211 | NM_080680.3 | AD | |
COL12A1 | 9192 | NM_004370.6 | AD, AR | |
COL2A1 | 4464 | NM_001844.5 | AD, AR | |
COL6A1 | 3087 | NM_001848.3 | AD, AR | |
COL6A2 | 3060 | NM_001849.4 | AD, AR | |
COL6A3 | 9534 | NM_004369.4 | AD, AR | |
COL9A1 | 2766 | NM_001851.6 | AR | |
COL9A2 | 2070 | NM_001852.4 | AR | |
COL9A3 | 2055 | NM_001853.4 | AR | |
ECEL1 | 2328 | NM_004826.4 | AR | |
FBN1 | 8616 | NM_000138.5 | AD | |
FKBP10 | 1749 | NM_021939.4 | AR | |
MYBPC1 | 3516 | NM_002465.4 | AD, AR | |
MYH3 | 5823 | NM_002470.4 | AD, AR | |
MYH8 | 5814 | NM_002472.3 | AD | |
NALCN | 5217 | NM_052867.4 | AD | |
PIEZO2 | 8259 | NM_022068.4 | AD, AR | |
PLOD2 | 2277 | NM_182943.3 | AR | |
SCARF2 | 2613 | NM_153334.7 | AR | |
SMAD2 | 1404 | NM_005901.6 | AD | |
SMAD3 | 1278 | NM_005902.4 | AD | |
TGFB2 | 1245 | NM_003238.6 | AD | |
TGFB3 | 1239 | NM_003239.5 | AD | |
TGFBR1 | 1512 | NM_004612.4 | AD | |
TGFBR2 | 1704 | NM_003242.6 | AD | |
TNNI2 | 549 | NM_003282.4 | AD | |
TNNT3 | 777 | NM_006757.4 | AD | |
TPM2 | 855 | NM_003289.4 | AD |
Informations about the disease
Synonyms
- Alias: Beals syndrome (FBN2)
- Alias: Congenital contractural arachnodactyly (FBN2)
- Allelic: Macular degeneration, early-onset (FBN2)
- Achondrogenesis, type II or hypochondrogenesis (COL2A1)
- Alias: Beals-Hecht syndrome
- Arthrogryposis, distal, type 1A (TPM2)
- Arthrogryposis, distal, type 1B (MYBPC1)
- Arthrogryposis, distal, type 2A [Freeman-Sheldon] (MYH3)
- Arthrogryposis, distal, type 2B1 (TNNI2)
- Arthrogryposis, distal, type 2B2 (TNNT3)
- Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
- Arthrogryposis, distal, type 2B4 (TPM2)
- Arthrogryposis, distal, type 3 (PIEZO2)
- Arthrogryposis, distal, type 5 (PIEZO2)
- Arthrogryposis, distal, type 5D Arthrogryposis, distal, type 5D (ECEL1)
- Arthrogryposis, distal, with impaired proprioception a+ touch (PIEZO2)
- Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
- Bethlem myopathy 2 (COL12A1)
- Boudin-Mortier syndrome (NPR3)
- Bruck syndrome 1 (FKBP10)
- Bruck syndrome 2 (PLOD2)
- Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
- Contractural arachnodactyly, congenital (FBN2)
- Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A (MYH3)
- Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B (MYH3)
- Czech dysplasia (COL2A1)
- Epiphyseal dysplasia, multiple, 2 (COL9A2)
- Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
- Epiphyseal dysplasia, multiple, 6 (COL9A1)
- Epiphyseal dysplasia, multiple, with myopia + deafness (COL2A1)
- Fibrochondrogenesis 1 (COL11A1)
- Fibrochondrogenesis 2 (COL11A2)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Kniest dysplasia (COL2A1)
- Legg-Calve-Perthes disease (COL2A1)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Loeys-Dietz syndrome 1 (TGFBR1)
- Loeys-Dietz syndrome 2 (TGFBR2)
- Loeys-Dietz syndrome 3 (SMAD3)
- Loeys-Dietz syndrome 4 (TGFB2)
- Loeys-Dietz syndrome 5 (TGFB3)
- Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
- MASS syndrome (FBN1)
- Marden-Walker syndrome (PIEZO2)
- Marfan syndrome (FBN1)
- Marshall syndrome (COL11A1)
- Myosclerosis, congenital (COL6A2)
- Osteogenesis imperfecta, type XI (FKBP10)
- Otospondylomegaepiphyseal dysplasia, AD + AR (COL11A2)
- Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
- SED congenita (COL2A1)
- SMED Strudwick type (COL2A1)
- Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
- Spondyloperipheral dysplasia (COL2A1)
- Stickler syndrome, type I (COL2A1)
- Stickler syndrome, type II (COL11A1)
- Stickler syndrome, type IV (COL9A1)
- Stickler syndrome, type V (COL9A2)
- Trismus-pseudocamptodactyly syndrome (MYH8)
- Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
- Ullrich congenital muscular dystrophy 2 (COL12A1)
- Van den Ende-Gupta syndrome (SCARF2)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined