Aliases: PHOG, GCFX, SS, SHOXY, SHOX1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Langer Mesomelic Dysplasia | causative loss of function |
mechanism: Complete Loss of SHOX Transcription Factor Activity
|
| Leri-Weill Dyschondrosteosis | causative |
mechanism: Reduced SHOX Regulatory Input after Enhancer Deletion; SHOX haploinsufficiency in growth plate chondrocytes
|
| 47,XYY Syndrome |
untyped
Candidate dosage contribution to increased stature
|
mechanism: Increased Pseudoautosomal Gene Copy Number; SHOX Dosage Contribution to Linear Growth
|
| Klinefelter Syndrome |
untyped
Pseudoautosomal region gene
|
|
| Turner Syndrome |
untyped
SHOX haploinsufficiency is causative for the short-stature and mesomelic skeletal arm of Turner syndrome, but SHOX variation is neither necessary nor sufficient for Turner syndrome as a whole; the defining lesion is loss of all or part of a sex chromosome.
|
|
| 45,X/46,XY Mixed Gonadal Dysgenesis | no genetic record |
mechanism: SHOX Haploinsufficiency in the 45,X Lineage
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.