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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessContracture syndrome, lethal congenital; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Contracture syndrome, lethal congenital, comprising 12 core candidate genes and altogether 21 curated genes according to the clinical signs

ID
LP0450
Number of genes
20 Accredited laboratory test
Examined sequence length
25,7 kb (Core-/Core-canditate-Genes)
69,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CHRNA11374AD, AR
CHRNB11506AD, AR
CHRND1554AD, AR
CHRNG1554AR
DNM22613AR
DOK71515AR
ERBB34029AR
GLE12097AR
MUSK2610AR
MYBPC13516AD, AR
PIP5K1C2007AR
RAPSN1239AR
ADCY63507AR
ADGRG63858AR
CNTNAP14155AR
GLDN1670AR
LGI41614AR
SYNE126250AD, AR
ZBTB421269AR
ZMPSTE241428AR

Informations about the disease

Clinical Comment

Group of diseases

 

Synonyms
  • Alias: Arthrogryposis multiplex congenita, lethal
  • Alias: Lethal congenital contracture syndrome
  • Allelic: Centronuclear myopathy 1 (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
  • Allelic: Congenital arthrogryposis with anterior horn cell disease (GLE1)
  • Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
  • Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
  • Allelic: Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Allelic: Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Allelic: Myasthenic syndrome, congenital, 10 (DOK7)
  • Allelic: Myasthenic syndrome, congenital, 11, assoc. with acetylcholine receptor deficiency (RAPSN)
  • Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
  • Allelic: Myasthenic syndrome, congenital, 2C, assoc. with acetylcholine receptor deficiency (CHRNB1)
  • Allelic: Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 3C, assoc. with acetylcholine receptor deficiency (CHRND)
  • Allelic: Myasthenic syndrome, congenital, 9, assoc. with acetylcholine receptor deficiency (MUSK)
  • Allelic: Myopathy, congenital, with tremor (MYBPC1)
  • Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
  • Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect (LGI4)
  • Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
  • Arthrogryposis, Perthes disease + upward gaze palsy (NEK9)
  • Arthrogryposis, distal, type 1B (MYBPC1)
  • Escobar syndrome (CHRNG)
  • Fetal akinesia deformation sequence 1 (MUSK)
  • Fetal akinesia deformation sequence 2 (RAPSN)
  • Fetal akinesia deformation sequence 3 (DOK7)
  • Lethal congenital contracture syndrome 1 (GLE1)
  • Lethal congenital contracture syndrome 10 (NEK9)
  • Lethal congenital contracture syndrome 11 (GLDN)
  • Lethal congenital contracture syndrome 2 (ERBB3)
  • Lethal congenital contracture syndrome 3 (PIP5K1C)
  • Lethal congenital contracture syndrome 4 (MYBPC1)
  • Lethal congenital contracture syndrome 5 (DNM2)
  • Lethal congenital contracture syndrome 6 (ZBTB42)
  • Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Lethal congenital contracture syndrome 8 (ADCY6)
  • Lethal congenital contracture syndrome 9 (ADGRG9)
  • Multiple pterygium syndrome, lethal type (CHRNA1, CHRND)
  • Multiple pterygium syndrome, lethal type (CHRNG)
  • Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
  • Restrictive dermopathy, lethal (ZMPSTE24)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined