Kaposiform lymphangiomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kaposiform lymphangiomatosis | |
| fr | Lymphangiomatose kaposiforme | |
| de | Kaposiforme Lymphangiomatose | |
| es | Linfangiomatosis kaposiforme | |
| it | Linfangiomatosi kaposiforme | |
| nl | Kaposiforme lymfangiomatose | |
| pt | Linfangiomatose kaposiforme | |
| pl | Limfangiomatoza typu mięsaka Kaposiego | |
| cs | Kaposiformní lymfangiomatóza | |
| uk | Капозиформний лімфангіоматоз | |
| zh | 卡波西氏淋巴管瘤病 | |
| tr | Kaposiform lenfanjiomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D18.1 | NTBT | attributed | validated |
| ICD-11 | 2E81.10 | NTBT | index | validated |
| MONDO | 0018736 | E | validated | |
| UMLS | C5681097 | E | validated | |
| GARD | 13451 | 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 (1):
- ORPHA:719950Complex lymphatic anomaly
rare developmental anomalies during embryogenesis; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_27053281[PMID] |
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
46 annotations · validated 2019-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0045026 | Abnormal mediastinum morphology | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0002202 | Pleural effusion | |
| Frequent (79-30%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0025408 | Abnormal spleen morphology | |
| HP:0000765 | Abnormal thorax morphology | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0012735 | Cough | |
| HP:0002094 | Dyspnea | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0002797 | Osteolysis | |
| HP:0001698 | Pericardial effusion | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0005107 | Abnormal sacrum morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0003174 | Abnormality of the ischium | |
| HP:0000464 | Abnormality of the neck | |
| HP:0000782 | Abnormality of the scapula | |
| HP:0100711 | Abnormality of the thoracic spine | |
| HP:0000978 | Bruising susceptibility | |
| HP:0100749 | Chest pain | |
| HP:0031364 | Ecchymosis | |
| HP:0100310 | Epidural hemorrhage | |
| HP:0000421 | Epistaxis | |
| HP:0003546 | Exercise intolerance | |
| HP:0001945 | Fever | |
| HP:0003084 | Fractures of the long bones | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0100764 | Lymphangioma | |
| HP:0100608 | Metrorrhagia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0001737 | Pancreatic cysts | |
| HP:0001744 | Splenomegaly | |
| HP:0011896 | Subconjunctival hemorrhage | |
| HP:0001873 | Thrombocytopenia | |
| Very rare (<4-1%) | ||
| HP:0002693 | Abnormality of the skull base | |
| HP:0001903 | Anemia | |
| HP:0000105 | Enlarged kidney | |
| HP:0002105 | Hemoptysis | |
| HP:0012740 | Papilloma | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28398067[PMID]_27053281[PMID]_24252784[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464329
- This record as JSON: /data/d/464329.json