IllnessVascular skin disorders, differential diagnosis

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

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

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FLT4	4092	136352	NM_182925.5	AD
FOXC2	1506	602402	NM_005251.3	AD
NOTCH3	6966	600276	NM_000435.3	AD
ACVRL1	1512	601284	NM_000020.3	AD
ADAMTS13	4284	604134	NM_139025.5	AR
ALAS2	1764	301300	NM_000032.5	XL
ATM	9171	607585	NM_000051.4	AR
CCBE1	1221	612753	NM_133459.4	AR
ENG	1878	131195	NM_000118.3	AD
EPHB4	2964	600011	NM_004444.5	AD
F12	1848	610619	NM_000505.4	AD, AR
FECH	1272	612386	NM_000140.5	AR
GLMN	1785	601749	NM_053274.3	AD
KRIT1	2211	604214	NM_194456.1	AD
PIK3CA	3207	171834	NM_006218.4	AD
PIK3R2	2187	603157	NM_005027.4	AD
RASA1	3144	139150	NM_002890.3	AD
SCN9A	5934	603415	NM_002977.3	AD
SMAD4	1659	600993	NM_005359.6	AD
SOX18	1155	601618	NM_018419.3	AD, AR
STING1	1140	612374	NM_198282.4	AD
TEK	3375	600221	NM_000459.5	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined