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

IllnessHyaline Fibromatose-Syndrom, Differentialdiagnose

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Summary

Short information

Comprehensive differential diagnostic panel for Hyaline Fibromatosis syndrome comprising 8 curated genes according to the clinical signs

ID
HP1774
Number of loci
Loci typeCount
Gen8
Accredited laboratory test
Examined sequence length
1,5 kb (Core-/Core-canditate-Genes)
26,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ANTXR21470NM_001145794.2AR
ASAH11188NM_177924.5AR
COL1A14395NM_000088.4AD
ECM11704NM_001202858.2AR
FBN18616NM_000138.5AD
GNPTAB3771NM_024312.5AR
MMP21833NM_001127891.3AR
PDGFRB3321NM_002609.4AD

Informations about the disease

Clinical Comment

illness_ClinicalComment_HP1774

 

Synonyms
  • Alias: Inherited systemic hyalinosis
  • Alias: Molluscum fibrosum
  • Alias: Murray syndrome
  • Alias: Puretic syndrome
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Marfan syndrome (FBN1)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Osteogenesis imperfecta, type I, II, III, IV (COL1A1)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • Acromicric dysplasia (FBN1)
  • Caffey disease (COL1A1)
  • Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
  • Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Farber lipogranulomatosis (ASAH1)
  • Geleophysic dysplasia 2 (FBN1)
  • Hyaline fibromatosis syndrome (ANTXR2)
  • MASS syndrome (FBN1)
  • Marfan lipodystrophy syndrome (FBN1)
  • Mucolipidosis II + III alpha/beta (GNPTAB)
  • Multicentric osteolysis, nodulosis + arthropathy (MMP2)
  • Myofibromatosis, infantile, 1 (PDGFRB)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Stiff skin syndrome (FBN1)
  • Urbach-Wiethe disease (ECM1)
  • Weill-Marchesani syndrome 2, AD (FBN1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined