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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessCutis laxa, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Cutis laxa, autosomal rezessive, type 1, comprising altogether 23 curated genes according to the clinical signs

ID
CP9251
Number of genes
16 Accredited laboratory test
Examined sequence length
12,2 kb (Core-/Core-canditate-Genes)
31,3 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
ATP6V0A22571AR
EFEMP21332AR
ELN2175AD
FBLN51347AD, AR
LTBP44763AR
ALDH18A12388AD, AR
ATP7A4503XLR
GORAB1185AR
PYCR1960AR
SLC2A101626AR
SMAD21404AR
SMAD31278AD
TGFB21245AD
TGFB31239AD
TGFBR11512AD
TGFBR21704AD

Informations about the disease

Synonyms
  • Alias: AR Cutis Laxa Type 1B
  • Alias: Cutis laxa, AR, Lungenemphysem Typ
  • Alias: Cutis laxa, AR, mit schwerer systemischer Beteiligung
  • Alias: EFEMP2-Related Cutis Laxa
  • Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Developmental + epileptic encephalopathy 9 (ATP6V1A)
  • Allelic: Doyne honeycomb degeneration of retina (EFEMP1)
  • Allelic: Esophageal cancer, somatic (TGFBR2)
  • Allelic: Infantile liver failure syndrome 2 (NBAS)
  • Allelic: Macular degeneration, age-related, 3 (FBLN5)
  • Allelic: Menkes disease (ATP7A)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
  • Allelic: Spastic paraplegia 9A, AD (ALDH18A1)
  • Allelic: Spastic paraplegia 9B, AR (ALDH18A1)
  • Allelic: Spinal muscular atrophy, distal, XL 3 (ATP7A)
  • Allelic: Supravalvar aortic stenosis (ELN)
  • Aortic aneurysm, familial thoracic 10 (LOX)
  • Arterial tortuosity syndrome (SLC2A10)
  • Connective tissue disorder [panelapp Ehlers-Danlos panel] (EFEMP1)
  • Cutis laxa, AD (ELN)
  • Cutis laxa, AD 2 (FBLN5)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IA (FBLN5)
  • Cutis laxa, AR, type IB (EFEMP2)
  • Cutis laxa, AR, type IC (LTBP4)
  • Cutis laxa, AR, type IIA (ATP6V0A2)
  • Cutis laxa, AR, type IIB (PYCR1)
  • Cutis laxa, AR, type IIC (ATP6V1E1)
  • Cutis laxa, AR, type IID (ATP6V1A)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Cutis laxa, AR, type IIIB (PYCR1)
  • Geroderma osteodysplasticum (GORAB)
  • Lenz-Majewski hyperostotic dwarfism (PTDSS1)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Loeys-Dietz syndrome [MONDO:0018954] (SMAD2)
  • Macrocephaly, alopecia, cutis laxa + scoliosis (RIN2)
  • Neuronopathy, distal hereditary motor, type X (EMILIN1)
  • Occipital horn syndrome (ATP7A)
  • Short stature, optic nerve atrophy + Pelger-Huet anomaly (NBAS)
  • Wrinkly skin syndrome (ATP6V0A2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q82.8

Bioinformatics and clinical interpretation

No text defined