Annotation Detail
Information
- Associated Genes
- PITX1
- Associated Variants
-
PITX1 MUTATION
PITX1 MUTATION - Associated Disease
- Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
- Source Database
- DisGeNET
- Description
- We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients.
- Pubmed
- 23940102
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree,ORPHANET
- DisGENET score for the Gene Disease association
- 0.120542883744161
Drugs