Entry - *400020 - SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY - OMIM

 
 
* 400020

SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY


HGNC Approved Gene Symbol: SHOX

Cytogenetic location: Yp11.2     Genomic coordinates (GRCh38): Y:624,344-659,411 (from NCBI)


Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Yp11.2 Langer mesomelic dysplasia 249700 PR 3
Leri-Weill dyschondrosteosis 127300 PD 3
Short stature, idiopathic familial 300582 3

▼ TEXT

See short stature homeobox (SHOX; 312865) for a discussion of the SHOXY gene, which is located in the pseudoautosomal region.

▼ REFERENCES

  1. Ellison, J. W., Wardak, Z., Young, M. F., Robey, P. G., Webster, M., Chiong, W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Molec. Genet. 6: 1341-1347, 1997. [PubMed: 9259282, related citations] [Full Text]

  2. Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M. H., Ranke, M. B., Rosenthal, A., Ogata, T., Rappold, G. A. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16: 54-63, 1997. [PubMed: 9140395, related citations] [Full Text]


Creation Date:
Ada Hamosh : 11/15/1999
Edit History:
terry : 03/18/2004
joanna : 9/6/2001
carol : 11/15/1999

* 400020

SHORT STATURE HOMEOBOX, Y-LINKED; SHOXY


HGNC Approved Gene Symbol: SHOX

Cytogenetic location: Yp11.2     Genomic coordinates (GRCh38): Y:624,344-659,411 (from NCBI)


Gene-Phenotype Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Yp11.2 Langer mesomelic dysplasia 249700 Pseudoautosomal recessive 3
Leri-Weill dyschondrosteosis 127300 Pseudoautosomal dominant 3
Short stature, idiopathic familial 300582 3

TEXT

See short stature homeobox (SHOX; 312865) for a discussion of the SHOXY gene, which is located in the pseudoautosomal region.

See Also:

Ellison et al. (1997); Rao et al. (1997)

REFERENCES

  1. Ellison, J. W., Wardak, Z., Young, M. F., Robey, P. G., Webster, M., Chiong, W. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum. Molec. Genet. 6: 1341-1347, 1997. [PubMed: 9259282] [Full Text: https://doi.org/10.1093/hmg/6.8.1341]

  2. Rao, E., Weiss, B., Fukami, M., Rump, A., Niesler, B., Mertz, A., Muroya, K., Binder, G., Kirsch, S., Winkelmann, M., Nordsiek, G., Heinrich, U., Breuning, M. H., Ranke, M. B., Rosenthal, A., Ogata, T., Rappold, G. A. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nature Genet. 16: 54-63, 1997. [PubMed: 9140395] [Full Text: https://doi.org/10.1038/ng0597-54]


Creation Date:
Ada Hamosh : 11/15/1999

Edit History:
terry : 03/18/2004
joanna : 9/6/2001
carol : 11/15/1999



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 7, 2024