English
ErkrankungVaskuläre Hauterkrankungen
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Vaskuläre Hauterkrankungen mit 3 bzw. zusammen genommen 22 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
VP9789
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
12,6 kb (Core-/Basis-Gene)
64,3 kb (Erweitertes Panel)
64,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[Sanger]
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Erbgang |
|---|---|---|---|
| FLT4 | 4092 | AD | |
| FOXC2 | 1506 | AD | |
| NOTCH3 | 6966 | AD und/oder Mult | |
| ACVRL1 | 1512 | AD und/oder Mult | |
| ADAMTS13 | 4284 | AR | |
| ALAS2 | 1764 | XL | |
| ATM | 9171 | AD und/oder AR und/oder SMu und/oder Sus | |
| CCBE1 | 1221 | AR | |
| ENG | 1878 | AD und/oder Mult | |
| EPHB4 | 2964 | AD | |
| F12 | 1848 | AD und/oder AR | |
| FECH | 1272 | AR | |
| GLMN | 1785 | AD | |
| KRIT1 | 2211 | AD | |
| PIK3CA | 3207 | AD und/oder SMu und/oder Sus | |
| PIK3R2 | 2187 | AD | |
| RASA1 | 3144 | AD | |
| SCN9A | 5934 | AD und/oder AR | |
| SMAD4 | 1659 | AD und/oder SMu und/oder Sus | |
| SOX18 | 1155 | AD und/oder AR | |
| STING1 | 1140 | AD | |
| TEK | 3375 | AD und/oder Dig |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe heterogener Erkrankungen (s.a. ORPHA79379)
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder SMu und/oder Sus
- AD und/oder Dig
- AD und/oder Mult
- AD und/oder SMu und/oder Sus
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M31.-
Bioinformatik und klinische Interpretation
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