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

IllnessMyhre syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Myhre syndrome comprising altogether 8 curated genes according to the clinical signs

ID
MP4446
Number of genes
6 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
24,9 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
SMAD41659NM_005359.6AD
ADAMTS103312NM_030957.4AR
ADAMTSL22856NM_014694.4AR
FBN18616NM_000138.5AD
LTBP25466NM_000428.3AR
TRIM372895NM_015294.6AR

Informations about the disease

Synonyms
  • Alias: Facial dysmorphism-intellectual disability-short stature-deafness syndrome
  • Alias: Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
  • Alias: Laryngotracheal stenosis, Arthropathy, Prognathism, Short stature (LAPS) Syndrome
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Glaucoma 3, primary congenital, D (LTBP2)
  • Allelic: Hereditary hemorrhagic telangiectasia (SMAD4)
  • Allelic: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Allelic: MASS syndrome (FBN1)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Marfan syndrome (FBN1)
  • Allelic: Microspherophakia and/or megalocornea, ectopia lentis, with/-out secondary glaucoma (LTBP2)
  • Allelic: Pancreatic cancer, somatic (SMAD4)
  • Allelic: Polyposis, juvenile intestinal (SMAD4)
  • Allelic: Stiff skin syndrome (FBN1)
  • Atelosteogenesis, type I (FLNB)
  • Atelosteogenesis, type III (FLNB)
  • Boomerang dysplasia (FLNB)
  • Geleophysic dysplasia 1 (ADAMTSL2)
  • Geleophysic dysplasia 2 (FBN1)
  • Larsen syndrome (FLNB)
  • Mulibrey nanism (TRIM37)
  • Myhre syndrome (SMAD4)
  • Spondylocarpotarsal synostosis syndrome (FLNB)
  • Weill-Marchesani syndrome 1, AR (ADAMTS10)
  • Weill-Marchesani syndrome 2, AD (FBN1)
  • Weill-Marchesani syndrome 3, AR (LTBP2)
  • Weill-Marchesani syndrome 4, AR (ADAMTS17)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined