Details of Disease | DrugMAP

General Information of Disease (ID: DIS4TAKA)

Disease Name	SHORT syndrome
Synonyms	partial lipodystrophy with Rieger anomaly and short stature; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay; lipodystrophy, partial, with Rieger anomaly and short stature; short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay; Rieger anomaly-partial lipodystrophy syndrome; SHORT syndrome; short syndrome; lipodystrophy-Rieger anomaly-diabetes syndrome; Aarskog-Ose-Pande syndrome
Definition	SHORT syndrome is a rare inherited condition 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, are manifestations of the disease.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISB52BH: Eye disorder DIS6SVEE: Syndromic disease DISMFQKM: Developmental anomaly of metabolic origin DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS1BE1A: Hereditary lipodystrophy DIS4TAKA: SHORT syndrome
Disease Identifiers	MONDO ID MONDO_0010026 MESH ID C537327 UMLS CUI C0878684 OMIM ID 269880 MedGen ID 164212 Orphanet ID 3163

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRTC2	TTFWETR	Definitive	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIK3R1	OT5BZ1J9	Definitive	Autosomal dominant	[2]
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References

1	SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase C) impairing TORC2-dependent AKT activation.Hum Mol Genet. 2017 Oct 1;26(19):3713-3721. doi: 10.1093/hmg/ddx256.
2	PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet. 2013 Jul 11;93(1):141-9. doi: 10.1016/j.ajhg.2013.05.019. Epub 2013 Jun 27.