hereditary thrombocytosis with transverse limb defect
Findings
No curated finding names hereditary thrombocytosis with transverse limb defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.
Definition from the Mondo Disease Ontology (MONDO:0018000), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- THPOHGNC:11795
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: hereditary thrombocytosis with transverse limb defect
- Also called
- familial thrombocytosis with transverse limb defect