ErkrankungArthrogrypose, distal; Differentialdiagnose
Zusammenfassung
Kurzinformation
Ein kuratiertes panel mit 8 bzw. 13 Genen zur umfassenden Untersuchung der bekannten genetisch bedingten Formen der distalen Arthrogrypose
ID
AP9630
Anzahl Gene
13
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
25,5 kb (Core-/Basis-Gene)
47,4 kb (Erweitertes Panel)
47,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
Nach Ausschluss von neuromuskulären und amyoplasischen Ursachen sowie Syndromen
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ECEL1 | 2328 | AR | |
MYBPC1 | 3516 | AD und/oder AR | |
MYH3 | 5823 | AD und/oder AR | |
MYH7 | 5808 | AD und/oder AR und/oder Dig | |
MYH8 | 5814 | AD | |
TNNI2 | 549 | AD | |
TNNT3 | 777 | AD | |
TPM2 | 855 | AD | |
FBN2 | 8739 | AD | |
MYLPF | 517 | AR | |
PIEZO2 | 8259 | AD und/oder AR | |
TOR1AIP1 | 1755 | AR | |
TRPV4 | 2616 | AD |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe von Erkrankungen: Gelenkdeformitäten (Kontrakturen) schränken die Bewegung der Hände + Füße ein; dauerhaft gebeugte Finger, Zehen, überlappende Finger, Handdeformität aller Finger in ulnarer Abweichung, Klumpfuß; spezifische Hand-/Fußdeformitäten variieren zwischen Betroffenen; verursacht in der Regel keine Zeichen/Symptome in anderen Körperteilen
Synonyme
- Alias: Arthrogryposis multiplex congenita
- Allelic: Avascular necrosis of femoral head, primary, 2 (TRPV4)
- Allelic: Brachyolmia type 3 (TRPV4)
- Allelic: CAP myopathy 2 (TPM2)
- Allelic: Cardiomyopathy, dilated, 1S (MYH7)
- Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
- Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
- Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
- Allelic: Contractural arachnodactyly, congenital (FBN2)
- Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
- Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
- Allelic: Laing distal myopathy (MYH7)
- Allelic: Left ventricular noncompaction 5 (MYH)
- Allelic: Macular degeneration, early-onset (FBN2)
- Allelic: Metatropic dysplasia (TRPV4)
- Allelic: Myopathy, congenital, with tremor (MYBPC1)
- Allelic: Myopathy, myosin storage, AD + AR (MYH7)
- Allelic: Nemaline myopathy 4, AD (TPM2)
- Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
- Allelic: Parastremmatic dwarfism (TRPV4)
- Allelic: Scapuloperoneal spinal muscular atrophy (TRPV4)
- Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
- Allelic: Sodium serum level QTL 1 (TRPV4)
- Allelic: Spondyloepiphyseal dysplasia, Maroteaux type (TRPV4)
- Allelic: Spondylometaphyseal dysplasia, Kozlowski type (TRPV4)
- Allelic: Trismus-pseudocamptodactyly syndrome (MYH8)
- Arthrogryposis, distal, type 1A (TPM2)
- Arthrogryposis, distal, type 1B (MYBPC1)
- Arthrogryposis, distal, type 1C (MYLPF)
- Arthrogryposis, distal, type 2A + B3 (MYH3)
- Arthrogryposis, distal, type 2B1 (TNNI2)
- Arthrogryposis, distal, type 2B2 (TNNT3)
- Arthrogryposis, distal, type 2B4 (TPM2)
- Arthrogryposis, distal, type 3 + 5 (PIEZO2)
- Arthrogryposis, distal, type 5D (ECEL1)
- Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
- Carney complex variant (MYH8)
- Congenital distal spinal muscular atrophy + arthrogryposis [Lit.] (TRPV4)
- Contractural arachnodactyly, congenital (FBN2)
- Contractures, pterygia + spondylocarpostarsal fusion syndrome 1A + 1B (MYH3)
- Distal arthrogryposis (MYBPC1)
- Lethal congenital contracture syndrome 4 (MYBPC1)
- Marden-Walker syndrome (PIEZO2)
- Muscular dystrophy, Ar, with rigid spine + distal joint contractures (TOR1AIP1)
- Myopathy, distal, 4 (FLNC)
- Myopathy, myofibrillar, 5 (FLNC)
- Trismus-pseudocamptodactyly syndrome (arthrogryposis, distal, type 7 (MYH8)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q74.3
Bioinformatik und klinische Interpretation
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