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IllnessContracture syndrome, lethal congenital; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Contracture syndrome, lethal congenital, cotaining 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-GReferenz-Seq.Heredity
CHRNA11374NM_000079.4AD, AR
CHRNB11506NM_000747.3AD, AR
CHRND1554NM_000751.3AD, AR
CHRNG1554NM_005199.5AR
DNM22613NM_001005360.3AR
DOK71515NM_173660.5AR
ERBB34029NM_001982.4AR
GLE12097NM_001003722.2AR
MUSK2610NM_005592.4AR
MYBPC13516NM_002465.4AD, AR
PIP5K1C2007NM_012398.3AR
RAPSN1239NM_005055.5AR
ADCY63507NM_015270.5AR
ADGRG63858NM_001032394.3AR
CNTNAP14155NM_003632.3AR
GLDN1670NM_181789.4AR
LGI41614NM_139284.3AR
SYNE126250NM_033071.4AR
ZBTB421269NM_001137601.3AR
ZMPSTE241428NM_005857.5AR

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

Bioinformatics and clinical interpretation

No text defined