IllnessMucocutaneous venous malformations; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Mucocutaneous venous malformations containing 1 core gene and altogether 7 curated genes according to the clinical signs

VP4447

Number of genes

3 Accredited laboratory test

Examined sequence length

3,4 kb (Core-/Core-canditate-Genes)
8,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TEK	3375	600221	NM_000459.5	AD
GLMN	1785	601749	NM_053274.3	AD
PIK3CA	3207	171834	NM_006218.4	SMu, AD

Informations about the disease

Synonyms

Alias: Markel-Vikkula-Mulliken-Syndrom
Alias: Mukokutane venöse Fehlbildungen
Alias: TEK-related venous malformations
Allelic: Cowden syndrome 5 (PIK3CA)
Allelic: Glaucoma 3, primary congenital, E (TEK)
Allelic: Primary congenital glaucoma (TEK)
Bockenheimer disease (TEK)
CLAPO syndrome, somatic (PIK3CA)
CLOVE syndrome, somatic (PIK3CA)
Cavernous malformations of CNS + retina (KRIT1)
Cerebral cavernous malformations-1 (KRIT1)
Cerebral cavernous malformations-2 (CCM2)
Cerebral cavernous malformations-3 (PDCD10)
Glomuvenous malformations (GLMN)
Hyperkeratotic cutaneous capillary-venous malformations ass. w. cerebral capillary malform. (KRIT1)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
Venous malformations, multiple cutaneous + mucosal (TEK)
Verrucous haemangiomas [panelapp] (MAP3K3)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined