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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessArthrogryposis, distal; differential diagnosis

Summary

Short information

A curated panel containing 8 and altogether 14 genes for the comprehensive analysis of the known genetically caused distal forms of arthrogryposis

ID
AP9630
Number of genes
13 Accredited laboratory test
Examined sequence length
25,5 kb (Core-/Core-canditate-Genes)
47,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

After exclusion of neuromuscular and amyoplasic causes as well as syndromes

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
ECEL12328AR
MYBPC13516AD, AR
MYH35823AD
MYH75808AD, AR
MYH85814AD
TNNI2549AD
TNNT3777AD
TPM2855AD
FBN28739AD
MYLPF517AR
PIEZO28259AD, AR
TOR1AIP11755AR
TRPV42616AD

Informations about the disease

Clinical Comment

Group of disorders: Joint deformities (contractures) restrict movement in the hands and feet; features include permanently bent fingers, toes, overlapping fingers, hand deformity in which all of the fingers are in ulnar deviation, Clubfoot; specific hand/foot abnormalities vary among affected; typically does not cause any signs/symptoms affecting other parts of the body

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q74.3

Bioinformatics and clinical interpretation

No text defined