Capillary-lymphatic-venous malformation with segmental distribution
Synonyms: CLVM with segmental distribution · KTS · Klippel-Trénaunay syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Capillary-lymphatic-venous malformation with segmental distribution | CLVM with segmental distribution · KTS · Klippel-Trénaunay syndrome |
| fr | Malformation capillaro-lymphatico-veineuse avec distribution segmentaire | KTS · MCLV avec distribution segmentaire · Syndrome de Klippel-Trénaunay |
| de | Klippel-Trénaunay-Syndrom | CLVM mit segmentaler Verteilung · KTS · Kapillär-lymphatisch-venöse Malformation mit Extremitätenhyperplasie · Kombinierte kapillär-venolymphatische Fehlbildung mit Extremitätenvergrößerung |
| es | Malformación capilar-linfático-venosa con distribución segmentaria | CLVM con distribución segmentaria · SKT · Síndrome de Klippel-Trénaunay |
| it | Sindrome di Klippel-Trénaunay | |
| nl | Capillaire-lymfatische-veneuze malformatie met segmentale distributie | CLVM met segmentale distributie · KTS · Syndroom van Klippel-Trénaunay |
| pt | Malformação capilar-linfático-venosa com distribuição segmentar | CLVM com distribuição segmentar · KTS · Síndrome Klippel-Trénaunay |
| pl | Zespół Klippla i Trénaunaya | = en |
| cs | Klippelova-Trenaunayova nemoc | Klippel-Trenaunayova nemoc |
| uk | Синдром Кліппеля-Треноне | |
| zh | Klippel-TrÚnaunay综合征 | |
| tr | Klippel-Trènaunay sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 149000 | NTBT | validated | |
| ICD-10 | Q87.2 | NTBT | inclusion | validated |
| ICD-11 | LD26.60 | NTBT | index | validated |
| UMLS | C5848351 | E | validated | |
| MedDRA | 10051452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:459537Genetic complex vascular malformation with associated anomalies
rare genetic diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728584PIK3CA-related overgrowth spectrum disorder with vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:79379Skin vascular disease
rare skin diseases - ORPHA:715460Syndromic geographic pattern capillary malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:723261Syndromic venous malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:329324Inverse Klippel-Trénaunay syndrome moved to · inactive
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIK3CA | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 26268729[PMID] |
| AGGF1 | Major susceptibility factor in | Assessed | HGNC:24684 | ENSG00000164252 | 608464 | 5q13.3 | angiogenic factor with G-patch and FHA domains 1 | 18564129[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.007 / 100 000 | United States | Value and class | Validated | 20301304[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.007 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0001028 | Hemangioma | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0005293 | Venous insufficiency | |
| Frequent (79-30%) | ||
| HP:0100658 | Cellulitis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002204 | Pulmonary embolism | |
| HP:0000098 | Tall stature | |
| HP:0004936 | Venous thrombosis | |
| Occasional (29-5%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0001541 | Ascites | |
| HP:0001631 | Atrial septal defect | |
| HP:0001635 | Congestive heart failure | |
| HP:0000969 | Edema | |
| HP:0000790 | Hematuria | |
| HP:0002240 | Hepatomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0100724 | Hypercoagulability | |
| HP:0001249 | Intellectual disability | |
| HP:0011029 | Internal hemorrhage | |
| HP:0000256 | Macrocephaly | |
| HP:0000252 | Microcephaly | |
| HP:0001935 | Microcytic anemia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0100784 | Peripheral arteriovenous fistula | |
| HP:0003010 | Prolonged bleeding time | |
| HP:0002093 | Respiratory insufficiency | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90308
- This record as JSON: /data/d/90308.json