Klippel-Trenaunay-Weber Syndrome malady
Genetic diseases, Rare diseases, Cardiovascular diseases, Bone diseases, Skin diseases, Fetal diseases categories
10Disease Ontology, 23Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Klippel trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. this condition has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. a port-wine stain is a type of birthmark caused by swelling of the small blood vessels near the surface of the skin. the overgrowth of bones and soft tissues usually begins in infancy and is most often limited to one leg. however, overgrowth can also affect the arms or, rarely, the trunk. the abnormal growth can cause pain, a feeling of heaviness, and reduced movement in the affected area. the vein malformations include varicose veins and malformations of deep veins in the limbs. the cause of klippel-trenaunay syndrome is unknown. this condition is almost always sporadic, which means that it occurs in people with no history of the disorder in their family. last updated: 1/10/2012
MalaCards based summary: Klippel-Trenaunay-Weber Syndrome, also known as klippel-trenaunay syndrome, is related to weber syndrome and hemangioma, and has symptoms including abnormality of the skin, venous insufficiency and lower limb asymmetry. An important gene associated with Klippel-Trenaunay-Weber Syndrome is AGGF1 (angiogenic factor with G patch and FHA domains 1). Affiliated tissues include bone, skin and heart.
Disease Ontology:10 A rare congenital syndrome characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues.
Genetics Home Reference:23 Klippel-Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues, and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations.
NINDS:44 Klippel-Trenaunay syndrome (KTS) is a rare congenital malformation involving blood and lymph vessels and abnormal growth of soft and bone tissue.
Description from OMIM:47 149000
Klippel-Trenaunay-Weber Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Cardiovascular diseases, Bone diseases, Skin diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):49
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Europe); Age of onset: Infancy,Neonatal
Symptoms by clinical synopsis from OMIM:149000
Clinical features from OMIM:149000
Symptoms:49 (show all 32)
HPO human phenotypes related to Klippel-Trenaunay-Weber Syndrome:(show all 40)
MalaCards organs/tissues related to Klippel-Trenaunay-Weber Syndrome:33
Bone, Skin, Heart, Liver, Lung, Spinal cord, Spleen, Testis
Articles related to Klippel-Trenaunay-Weber Syndrome:(show top 50) (show all 88)
Search GEO for disease gene expression data for Klippel-Trenaunay-Weber Syndrome.
28ICD10 via Orphanet
36MESH via Orphanet
48OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet