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Hereditary thrombocytosis with transverse limb defect

MedGen UID:
1653707
•Concept ID:
C4749944
•
Disease or Syndrome
Synonyms: Familial thrombocytosis with transverse limb defect; familial thrombocytosis with transverse limb defect; hereditary thrombocytosis with transverse limb defect; Thrombocythemia with distal limb defect; thrombocythemia with distal limb defects; Thrombocythemia with distal limb defects
SNOMED CT: Familial thrombocytosis with transverse limb defect (771511005); Thrombocythemia with distal limb defect (771511005); Hereditary thrombocytosis with transverse limb defect (771511005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018000
Orphanet: ORPHA329319

Definition

A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary thrombocytosis with transverse limb defect

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