Vein Of Galen Aneurysmal Malformation

Description

Vein of Galen aneurysmal malformation (VGAM) is a congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis.

Clinical Features

Phenotypes and symptoms related to Vein Of Galen Aneurysmal Malformation

  • Congestive heart failure
  • Headache
  • Dilatation
  • Abnormality of the cerebral vasculature
  • Prominent superficial veins
  • Peripheral arteriovenous fistula
  • Increased head circumference
  • Vein of Galen aneurysmal malformation

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

Vein Of Galen Aneurysmal Malformation Is also known as vein of galen arteriovenous malformations.

Researches and researchers

Doctors, researchs, and experts related to Vein Of Galen Aneurysmal Malformation extracted from public data.

Vein Of Galen Aneurysmal Malformation Experts map



Current Researchs and researchers

  • MÜNCHEN — Pr Rüdiger VON KRIES

    Coordinator of research network

    • Institution/s:
      — Institut für Soziale Pädiatrie und Jugendmedizin
    • Research area/topic::

      INOPSU - ESPED: German Paediatric Surveillance Unit (DE)



Mendelian

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Vein Of Galen Aneurysmal Malformation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary lymphedema and Hydrops fetalis.

By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium).

SOS1, SOX18, VEGFC, GJC2, FAT4, PIEZO1, CCBE1, EPHB4, FLT4, FOXC2, GATA2, GJA1, HGF, HRAS, IKBKG, ITGA9, KIF11, KRAS, NRAS, PTPN11 , (...)

View the complete list with 3 more genes
Specificity
5 %
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Capillary malformation-Arteriovenous malformation (RASA1, EPHB4, STAMBP, PTEN).

By Center for Human Genetics Cliniques Universitaires Saint Luc (Belgium).

STAMBP, EPHB4, PTEN, RASA1
Specificity
25 %
Genes
100 %
EPHB4.

By Fulgent Genetics Fulgent Genetics (United States).

EPHB4
Specificity
100 %
Genes
100 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

RHEB, ROS1, BRAF, ARID1A, KDM5C, SMO, TP53, TSC1, TSC2, VHL, SETD2, PBRM1, EGFR, EPHB4, ERBB2, FGFR1, FLT3, AKT1, AKT2, MTOR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET Rare Disease Search Engine

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