Capillary Malformation-arteriovenous Malformation

Description

This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas.

Clinical Features

Phenotypes and symptoms related to Capillary Malformation-arteriovenous Malformation

  • Nevus flammeus
  • Capillary hemangioma
  • Arteriovenous malformation
  • Capillary malformation
  • Arteriovenous fistula

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Capillary Malformation-arteriovenous Malformation Is also known as cm-avm.

Researches and researchers

Doctors, researchs, and experts related to Capillary Malformation-arteriovenous Malformation extracted from public data.

Capillary Malformation-arteriovenous Malformation Experts map



Current Researchs and researchers

  • LONDON — Dr Edmund JESSOP

    Coordinator of research network

    • Institution/s:
      — Department of Health
    • Research area/topic::

      RASopathy network: disorders of the Ras-MAPK pathway



Mendelian

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Capillary Malformation-arteriovenous Malformation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
34 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
67 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ACVRL1, ENG, GDF2, SMAD4, RASA1
Specificity
20 %
Genes
34 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ACVRL1, ENG, GDF2, SMAD4, RASA1
Specificity
20 %
Genes
34 %
Capillary Malformation-Arteriovenous Malformation (CM-AVM).

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RASA1
Specificity
100 %
Genes
34 %
RASA1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RASA1
Specificity
100 %
Genes
34 %
RASA1-Related Disorders (RASA1) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RASA1
Specificity
100 %
Genes
34 %
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RASA1
Specificity
100 %
Genes
34 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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