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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessVascular skin disorders, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for hereditary Vascular skin disorders containing 3 core candidate genes and altogether 22 curated genes according to the clinical signs

ID
VP9789
Number of genes
22 Accredited laboratory test
Examined sequence length
12,6 kb (Core-/Core-canditate-Genes)
64,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FLT44092NM_182925.5AD
FOXC21506NM_005251.3AD
NOTCH36966NM_000435.3AD
ACVRL11512NM_000020.3AD
ADAMTS134284NM_139025.5AR
ALAS21764NM_000032.5XL
ATM9171NM_000051.4AR
CCBE11221NM_133459.4AR
ENG1878NM_000118.3AD
EPHB42964NM_004444.5AD
F121848NM_000505.4AD, AR
FECH1272NM_000140.5AR
GLMN1785NM_053274.3AD
KRIT12211NM_194456.1AD
PIK3CA3207NM_006218.4AD
PIK3R22187NM_005027.4AD
RASA13144NM_002890.3AD
SCN9A5934NM_002977.3AD
SMAD41659NM_005359.6AD
SOX181155NM_018419.3AD, AR
STING11140NM_198282.4AD
TEK3375NM_000459.5AD

Informations about the disease

Clinical Comment

Group of heterogenous diseases (see also ORPHA79379)

 

Synonyms
  • Alias: Genetic skin vascular disorder
  • Alias: Skin vascular disease
  • Angioedema, hereditary, type III (F12)
  • Ataxia-telangiectasia (ATM)
  • CLAPO syndrome, somatic (PIK3CA)
  • CLOVE syndrome, somatic (PIK3CA)
  • Capillary malformation-arteriovenous malformation 1 (RASA1)
  • Capillary malformation-arteriovenous malformation 2 (EPHB4)
  • Erythermalgia, primary (SCN9A)
  • Glomuvenous malformations (GLMN)
  • Hemangioma, capillary infantile, somatic (FLT4)
  • Hennekam lymphangiectasia-lymphedema syndrome 1 (CCBE1)
  • Hidradenitis supp., Dowling-Degos dis., Adams-Oliver s., Psoriasis, Atopic derm. (NOTCH signalling)
  • Hyperkeratotic cutaneous capillary-venous malformations ass. with cerebral capill. malform. (KRIT1)
  • Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Lymphatic malformation 1 (FLT4)
  • Lymphatic malformation 7 (EPHB4)
  • Lymphedema-distichiasis syndrome (FOXC2)
  • Lymphedema-distichiasis syndrome with renal disease + diabetes mellitus (FOXC2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Protoporphyria, erythropoietic, 1 (FECH)
  • Protoporphyria, erythropoietic, XL (ALAS2)
  • STING-associated vasculopathy, infantile-onset (STING1)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
  • Venous malformations, multiple cutaneous + mucosal (TEK)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined