multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Findings
No curated finding names multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas.
Definition from the Mondo Disease Ontology (MONDO:0018735), read 2026-09-29. CC BY 4.0.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal gastrointestinal tract morphologyHPOHP:0012718
- Very frequent (80% to 99% of cases)
- Abnormal skin morphologyHPOHP:0011121
- Very frequent (80% to 99% of cases)
- Abnormal vascular morphologyHPOHP:0025015
- Very frequent (80% to 99% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Abnormal lung morphologyHPOHP:0002088
- Frequent (30% to 79% of cases)
Show the remaining 34
- Abnormal renal cortex morphologyHPOHP:0011035
- Occasional (5% to 29% of cases)
- Abnormality of the eyeHPOHP:0000478
- Occasional (5% to 29% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Occasional (5% to 29% of cases)
- Abnormality of the liverHPOHP:0001392
- Occasional (5% to 29% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Occasional (5% to 29% of cases)
- CoughHPOHP:0012735
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
7 names
Resolves to: multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
- Also called
- cutaneovisceral angiomatosis-thrombocytopenia syndromeDKFZp434L132MALT1 wt alleleMLTMLT1mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allelemultifocal lymphangioendotheliomatosis with thrombocytopenia