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

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

Name	Exon Length (bp)	OMIM-G	Heredity
ECEL1	2328	605896	AR
MYBPC1	3516	160794	AD, AR
MYH3	5823	160720	AD
MYH7	5808	160760	AD, AR
MYH8	5814	160741	AD
TNNI2	549	191043	AD
TNNT3	777	600692	AD
TPM2	855	190990	AD
FBN2	8739	612570	AD
MYLPF	517	617378	AR
PIEZO2	8259	613629	AD, AR
TOR1AIP1	1755	614512	AR
TRPV4	2616	605427	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q74.3

Bioinformatics and clinical interpretation

No text defined