SHORT syndrome

Stature, Hyperextensibility of joints or Hernia (inguinal), Ocular depression, Rieger anomaly and Teething delay; Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay

Also Known As:

Networked: 21 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Insulin Resistance
2.	Lipodystrophy
3.	Diabetes Mellitus
4.	Glucose Intolerance
5.	Thyroid Diseases (Thyroid Disease)

Experts

1.	Hirota, Yushi: 3 articles (04/2022 - 01/2021)
2.	Ogawa, Wataru: 3 articles (04/2022 - 01/2021)
3.	Araki, Eiichi: 2 articles (04/2022 - 02/2022)
4.	Ishigaki, Yasushi: 2 articles (04/2022 - 02/2022)
5.	Katagiri, Hideki: 2 articles (04/2022 - 02/2022)
6.	Maegawa, Hiroshi: 2 articles (04/2022 - 02/2022)
7.	Yamauchi, Toshimasa: 2 articles (04/2022 - 02/2022)
8.	Yorifuji, Tohru: 2 articles (04/2022 - 02/2022)
9.	Kahn, C Ronald: 2 articles (01/2017 - 07/2013)
10.	Molven, Anders: 2 articles (01/2017 - 07/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to SHORT syndrome:

1.	Metformin (Glucophage)FDA LinkGeneric 01/01/2019 - "Metformin paradoxically worsens insulin resistance in SHORT syndrome." 01/01/2019 - "Metformin treatment may paradoxically lead to deterioration of insulin resistance and to development of glucose intolerance in SHORT syndrome. " 01/01/2019 - "Though, the precise cause of such profound and paradoxical worsening of glucose tolerance post metformin remains unknown, SHORT syndrome might prove to be an interesting model to study the mechanism(s) of metformin action." 10/01/2021 - "Although no treatment guidelines are available to relieve insulin resistance in SHORT syndrome, our treatment plans, including lifestyle intervention combined with metformin and pioglitazone, were carried out for this patient. " 01/01/2019 - "We attempted to test the efficacy metformin in a female patient with SHORT syndrome by measuring glucose and insulin during an extended Oral Glucose Tolerance Test (OGTT) in a 21-year old patient (BMI 17.5 kg/m2), who presented for endocrine assessment with a history of amenorrhoea. "
2.	Glucose (Dextrose)FDA LinkGeneric 01/01/2019 - "Though, the precise cause of such profound and paradoxical worsening of glucose tolerance post metformin remains unknown, SHORT syndrome might prove to be an interesting model to study the mechanism(s) of metformin action." 01/01/2019 - "We attempted to test the efficacy metformin in a female patient with SHORT syndrome by measuring glucose and insulin during an extended Oral Glucose Tolerance Test (OGTT) in a 21-year old patient (BMI 17.5 kg/m2), who presented for endocrine assessment with a history of amenorrhoea. "
3.	Phosphatidylinositol 3-Kinase (1 Phosphatidylinositol 3 Kinase)IBA 01/01/2017 - "To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. " 03/01/2014 - "Thauvin-Robinet et al. (2013) The American Journal of Human Genetics 93: 141-149 SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signalling. " 07/11/2013 - "SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling." 04/01/2022 - "Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. " 02/28/2022 - "Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. "
4.	Insulin (Novolin)FDA Link 10/20/2016 - "We report 5 patients with SHORT syndrome and C-terminal mutations in PIK3R1, encoding the p85α/p55α/p50α subunits of PI3K, which act between INSR and AKT in insulin signaling. " 01/28/2021 - "SHORT syndrome is a rare developmental disorder frequently associated with growth failure and insulin resistant diabetes mellitus (IRDM). " 01/28/2021 - "Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review." 11/01/1993 - "Insulin resistant diabetes mellitus seems to be a new finding in SHORT syndrome, not previously described in this condition." 07/01/1994 - "Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome."
5.	Insulin ReceptorIBA 04/01/2022 - "Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. " 02/28/2022 - "Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. " 01/01/2021 - "Mutations of the insulin receptor gene (INSR)-which trigger type A insulin resistance, Rabson-Mendenhall, or Donohue syndromes-and those of the gene for the p85α regulatory subunit of phosphoinositide 3-kinase (PIK3R1), which give rise to SHORT syndrome, are the most common and second most common causes, respectively, of single-gene insulin resistance. "
6.	Class Ia Phosphatidylinositol 3-KinaseIBA 01/01/2021 - "Clinical exome sequencing showed a heterozygous pathogenic variant, NM_181523.3:c.1945C>T (p.Arg649Trp) in exon 15 of the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) known as the causative gene for SHORT syndrome. " 01/01/2019 - "SHORT syndrome is an autosomal dominant condition associated severe insulin resistance (IR) and lipoatrophy due to post-receptor defect in insulin signaling involving phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1), where no clear treatment guidelines are available. "
7.	Amino AcidsFDA Link 09/01/2014 - "These two patients not only provide additional evidence that PIK3R1 mutations cause SHORT syndrome, but also broaden the clinical spectrum of this syndrome and further confirm that the amino acid exchange c.1945C>T; p.Arg649Trp is a hotspot mutation in this gene. " 01/01/2023 - "We report a boy with typical clinical features of SHORT syndrome alongside a significant microcephaly and severe developmental delay associated with a de novo single nucleotide missense DNA variant resulting in a single amino acid change in codon 486 of the PIK3R1 gene (PIK3R1 c.1456G>A (p.Ala486Thr)). "
8.	PhosphotyrosineIBA 05/02/2014 - "As a consequence, the protein lacks the position that interacts with the phosphotyrosine residue of the substrate, resulting in the development of SHORT syndrome."
9.	Nonsense Codon (Nonsense Mutation)IBA 10/31/2020 - "This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. "
10.	Tryptophan (L-Tryptophan)FDA Link 01/01/2017 - "We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation. "

Therapies and Procedures

1.

Therapeutics 01/28/2021 - "We observed a Brazilian girl with SHORT syndrome who received GH therapy from 4 6/12 years of age for SGA short stature. " 07/01/1994 - "We report the case of a 13-year-old boy with SHORT syndrome, including lipoatrophy and insulin resistance, who developed diabetes mellitus while receiving growth hormone therapy. " 07/01/1994 - "Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome."