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  3. FAMILIAL MULTIPLE NEVI FLAMMEI

Familial Multiple Nevi Flammei

Table of contents:

Description

Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age.

Genes related to Familial Multiple Nevi Flammei

  • GNAQ

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Multiple Nevi Flammei

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Edema
  • Arrhythmia
  • Glaucoma
  • Papule
  • Cerebral calcification
  • Hemiparesis
  • Skin ulcer

And another 13 symptoms. If you need more information about this disease we can help you.

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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

Familial Multiple Nevi Flammei Is also known as familial multiple port-wine stains.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Familial Multiple Nevi Flammei Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

GNA11, GNAQ, BAP1
Specificity
34 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
GNAQ.

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

GNAQ
Specificity
100 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Uveal melanoma and blue nevi (frequent somatic mutations at codon 209 of GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %
Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %
Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %

You can get up to 34 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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