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Milroy disease and the VEGFR-3 mutation phenotype

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Milroy disease and the VEGFR-3 mutation phenotype

Auteurs : G. Brice ; A. Child ; A. Evans ; R. Bell ; S. Mansour ; K. Burnand ; M. Sarfarazi ; S. Jeffery ; Peter Mortimer (dermatologue)‎ [Royaume-Uni]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2005.

RBID : PMC:1735984

Descripteurs français

KwdFr :
- Adulte, Détection d'hétérozygote, Femelle, Humains, Lymphoedème (diagnostic), Lymphoedème (génétique), Lymphoedème (épidémiologie), Malformations urogénitales (diagnostic), Mutation, Mâle, Ongles malformés, Papillome (anatomopathologie), Phénotype, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Varices (diagnostic), Veine saphène (anatomopathologie), Âge de début.
MESH :
- anatomopathologie : Papillome, Veine saphène.
- diagnostic : Lymphoedème, Malformations urogénitales, Varices.
- génétique : Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- épidémiologie : Lymphoedème.
- Adulte, Détection d'hétérozygote, Femelle, Humains, Mutation, Mâle, Ongles malformés, Phénotype, Âge de début.

English descriptors

KwdEn :
- Adult, Age of Onset, Female, Heterozygote Detection, Humans, Lymphedema (diagnosis), Lymphedema (epidemiology), Lymphedema (genetics), Male, Mutation, Nails, Malformed, Papilloma (pathology), Phenotype, Saphenous Vein (pathology), Urogenital Abnormalities (diagnosis), Varicose Veins (diagnosis), Vascular Endothelial Growth Factor Receptor-3 (genetics).
MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- diagnosis : Lymphedema, Urogenital Abnormalities, Varicose Veins.
- epidemiology : Lymphedema.
- genetics : Lymphedema.
- pathology : Papilloma, Saphenous Vein.
- Adult, Age of Onset, Female, Heterozygote Detection, Humans, Male, Mutation, Nails, Malformed, Phenotype.

Abstract

Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in VEGFR-3. Ninety per cent of the 71 individuals carrying a VEGFR-3 mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of VEGFR-3 mutations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735984

DOI: 10.1136/jmg.2004.024802
PubMed: 15689446
PubMed Central: 1735984

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PMC:1735984

Le document en format XML

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<series><title level="j">Journal of Medical Genetics</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Lymphedema (diagnosis)</term>
<term>Lymphedema (epidemiology)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Mutation</term>
<term>Nails, Malformed</term>
<term>Papilloma (pathology)</term>
<term>Phenotype</term>
<term>Saphenous Vein (pathology)</term>
<term>Urogenital Abnormalities (diagnosis)</term>
<term>Varicose Veins (diagnosis)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
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<term>Détection d'hétérozygote</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (diagnostic)</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (épidémiologie)</term>
<term>Malformations urogénitales (diagnostic)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Ongles malformés</term>
<term>Papillome (anatomopathologie)</term>
<term>Phénotype</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Varices (diagnostic)</term>
<term>Veine saphène (anatomopathologie)</term>
<term>Âge de début</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Papillome</term>
<term>Veine saphène</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term>
<term>Urogenital Abnormalities</term>
<term>Varicose Veins</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term>
<term>Malformations urogénitales</term>
<term>Varices</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
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<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Papilloma</term>
<term>Saphenous Vein</term>
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<keywords scheme="MESH" qualifier="épidémiologie" xml:lang="fr"><term>Lymphoedème</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Age of Onset</term>
<term>Female</term>
<term>Heterozygote Detection</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Nails, Malformed</term>
<term>Phenotype</term>
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<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Détection d'hétérozygote</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
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<term>Âge de début</term>
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<front><div type="abstract" xml:lang="en"><p>  Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (<italic>VEGFR-3</italic>
) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in <italic>VEGFR-3</italic>
. Ninety per cent of the 71 individuals carrying a <italic>VEGFR-3</italic>
 mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of <italic>VEGFR-3</italic>
 mutations. </p>
</div>
</front>
</TEI>
</record>

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Milroy disease and the VEGFR-3 mutation phenotype

Milroy disease and the VEGFR-3 mutation phenotype

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

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Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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Pour générer des pages wiki