Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Summary

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome (MONDO:0018735) is a disease and 1 clinical trial. A subtype of lymphangioma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 46
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

46 HPO clinical features (Orphanet curated; top 46 by frequency):

HPO ID	Term	Frequency
HP:0001873	Thrombocytopenia	Very frequent (80-99%)
HP:0002239	Gastrointestinal hemorrhage	Very frequent (80-99%)
HP:0011121	Abnormal skin morphology	Very frequent (80-99%)
HP:0012718	Morphological abnormality of the gastrointestinal tract	Very frequent (80-99%)
HP:0025015	Abnormal vascular morphology	Very frequent (80-99%)
HP:0002088	Abnormal lung morphology	Frequent (30-79%)
HP:0002170	Intracranial hemorrhage	Frequent (30-79%)
HP:0011354	Generalized abnormality of skin	Frequent (30-79%)
HP:0025474	Erythematous plaque	Frequent (30-79%)
HP:0030350	Erythematous papule	Frequent (30-79%)
HP:0000077	Abnormality of the kidney	Occasional (5-29%)
HP:0000478	Abnormality of the eye	Occasional (5-29%)
HP:0000759	Abnormal peripheral nervous system morphology	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001342	Cerebral hemorrhage	Occasional (5-29%)
HP:0001392	Abnormality of the liver	Occasional (5-29%)
HP:0001627	Abnormal heart morphology	Occasional (5-29%)
HP:0002011	Morphological central nervous system abnormality	Occasional (5-29%)
HP:0002105	Hemoptysis	Occasional (5-29%)
HP:0002248	Hematemesis	Occasional (5-29%)
HP:0002249	Melena	Occasional (5-29%)
HP:0002573	Hematochezia	Occasional (5-29%)
HP:0002797	Osteolysis	Occasional (5-29%)
HP:0002904	Hyperbilirubinemia	Occasional (5-29%)
HP:0003304	Spondylolysis	Occasional (5-29%)
HP:0009139	Osteolysis involving bones of the lower limbs	Occasional (5-29%)
HP:0011035	Abnormal renal cortex morphology	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0012758	Neurodevelopmental delay	Occasional (5-29%)
HP:0031368	Intestinal perforation	Occasional (5-29%)
HP:0045039	Osteolysis involving bones of the upper limbs	Occasional (5-29%)
HP:0000573	Retinal hemorrhage	Very rare (<1-4%)
HP:0001541	Ascites	Very rare (<1-4%)
HP:0001639	Hypertrophic cardiomyopathy	Very rare (<1-4%)
HP:0001945	Fever	Very rare (<1-4%)
HP:0002134	Abnormality of the basal ganglia	Very rare (<1-4%)
HP:0002514	Cerebral calcification	Very rare (<1-4%)
HP:0003273	Hip contracture	Very rare (<1-4%)
HP:0007902	Vitreous hemorrhage	Very rare (<1-4%)
HP:0009830	Peripheral neuropathy	Very rare (<1-4%)
HP:0010536	Central sleep apnea	Very rare (<1-4%)
HP:0025064	Thalamic hemorrhage	Very rare (<1-4%)
HP:0025085	Bloody diarrhea	Very rare (<1-4%)
HP:0025420	Diffuse alveolar hemorrhage	Very rare (<1-4%)
HP:0031938	Abnormal conus terminalis morphology	Very rare (<1-4%)
HP:0040242	Muscle hemorrhage	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Mondo ID	MONDO:0018735
Orphanet	464321
NCIT	C60672
UMLS	C5575322
MedGen	1804470
GARD	0010467
Is cancer (heuristic)	no

Also known as: cutaneovisceral angiomatosis-thrombocytopenia syndrome · DKFZp434L132 · MALT1 wt allele · MLT · MLT1 · mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele · multifocal lymphangioendotheliomatosis with thrombocytopenia

Disease family

This is a subtype of lymphangioma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › benign neoplasm › cardiovascular organ benign neoplasm › lymphangioma › multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

Related subtypes (11): colonic lymphangioma, capillary lymphangioma, lymphangioendothelioma, Gorham-Stout disease, cystic hygroma, lymphedema-posterior choanal atresia syndrome, diffuse lymphatic malformation, mixed cystic lymphatic malformation, macrocystic lymphatic malformation, microcystic lymphatic malformation, skin lymphangioma

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00576888	Not specified	COMPLETED	Registry for Vascular Anomalies Associated With Coagulopathy