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Disease Profile
Kaposiform lymphangiomatosis
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Categories
Blood Diseases
Summary
Kaposiform lymphangiomatosis (KLA) is a rare type of
Symptoms
• Difficulty breathing (dyspnea)
• Cough
• Abnormal bleeding due to low
• Bruising
• Mass under the skin
Other symptoms may include bony changes due to bone
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal lymphatic vessel morphology | 0100766 | |
Abnormality of the mediastinum | 0045026 | |
Pleural effusion |
Fluid around lungs
|
0002202 |
30%-79% of people have these symptoms | ||
Cough |
Coughing
|
0012735 |
Dyspnea |
Trouble breathing
|
0002094 |
Hypofibrinogenemia | 0011900 | |
Osteolysis |
Breakdown of bone
|
0002797 |
Pericardial effusion |
Fluid around heart
|
0001698 |
5%-29% of people have these symptoms | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormal humerus morphology | 0031095 | |
Abnormal pelvis bone morphology |
Abnormal shape of pelvis bone
|
0040163 |
Abnormal sacrum morphology | 0005107 | |
Abnormal scapula morphology |
Abnormality of the shoulder blade
|
0000782 |
Abnormal thoracic spine morphology | 0100711 | |
Abnormality of femur morphology |
Abnormality of the thighbone
|
0002823 |
Abnormality of the cervical spine |
Abnormal cervical spine
|
0003319 |
Abnormality of the ischium | 0003174 | |
Abnormality of the neck | 0000464 | |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Chest pain | 0100749 | |
Ecchymosis | 0031364 | |
Epidural hemorrhage | 0100310 | |
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 |
Exercise intolerance |
Decreased ability to exercise
Inability to exercise
[ more ] |
0003546 |
Fever | 0001945 | |
Fractures of the long bones | 0003084 | |
Enlarged liver and spleen
|
0001433 | |
Lymphangioma | 0100764 | |
Metrorrhagia |
Abnormal uterus bleeding
|
0100608 |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Pancreatic cysts | 0001737 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Subconjunctival hemorrhage | 0011896 | |
Thrombocytopenia |
Low platelet count
|
0001873 |
1%-4% of people have these symptoms | ||
Abnormality of the skull base | 0002693 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Enlarged kidney |
Large kidneys
|
0000105 |
Hemoptysis |
Coughing up blood
|
0002105 |
Papilloma | 0012740 |
Cause
Diagnosis
Treatment
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Lymphangiomatosis & Gorham's Disease Alliance
19919 Villa Lante Place
Boca Raton, FL 33434
Toll-free: 1-844-588-5771
Telephone: +1-561-441-9766
E-mail: [email protected]
Website: https://www.lgdalliance.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Croteau SE, Kozakewich HPW, Perez-Atayde AR, & cols. Kaposiform Lymphangiomatosis: A Distinct Aggressive Lymphatic Anomaly. The Journal of pediatrics. 2014; 164(2):383-388. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946828/.
- Barclay SF Inman KW, Luks VL, McIntyre JB, Al-Ibraheemi A, Church AJ, Perez-Atayde AR, et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.. Genet Med. Dec 13, 2018; epub:https://www.ncbi.nlm.nih.gov/pubmed/30542204.
- Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T & Fukao T. Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham–Stout Disease. Pediatr Blood Cancer. 2016; 63:832–838. https://www.ncbi.nlm.nih.gov/pubmed/26806875.
- Safi F, Gupta A, Adams D, Anandan V, McCormack FX & Assaly R. Kaposiform lymphangiomatosis, a newly characterized vascular anomaly presenting with hemoptysis in an adult woman. Ann Am Thorac Soc. January, 2014; 11(1):92-5. https://www.ncbi.nlm.nih.gov/pubmed/24460439.
- Goyal P, Alomari AI & Kozakewich HP. Imaging features of kaposiform lymphangiomatosis. Pediatr Radiol. August, 2016; 46(9):1282-90. https://www.ncbi.nlm.nih.gov/pubmed/27053281.
- Adams DM, Ricci KW. Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. Hematol Oncol Clin North Am. Jun 2019; 33(3):455-470. https://www.ncbi.nlm.nih.gov/pubmed/31030813.
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