SHORT syndrome

Summary
Synonym
  • Aarskog-Ose-Pande syndrome
  • Lipodystrophy-Rieger anomaly-diabetes syndrome
  • Rieger anomaly-partial lipodystrophy syndrome
  • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Definition
A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:0111454
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
18708 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25513 Pik3r1 phosphoinositide-3-kinase regulatory subunit 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024