SHORTS
MCID: SHR029
MIFTS: 58

Short Syndrome (SHORTS) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral diseases, Cardiovascular diseases

Aliases & Classifications for Short Syndrome

Aliases & Descriptions for Short Syndrome:

Name: Short Syndrome 54 23 50 24 25 56 66 69
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 50 66
Partial Lipodystrophy with Rieger Anomaly and Short Stature 50 66
Aarskog-Ose-Pande Syndrome 50 56
Shorts 66 29
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 25
Pik3r1-Associated Syndromic Insulin Resistance with Lipoatrophy 23
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 25
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 25
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome 56
Rieger Anomaly-Partial Lipodystrophy Syndrome 56
Growth Retardation-Rieger Anomaly 25

Characteristics:

Orphanet epidemiological data:

56
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

HPO:

32
short syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 269880
Orphanet 56 ORPHA3163
MESH via Orphanet 43 C537327
UMLS via Orphanet 70 C0878684
ICD10 via Orphanet 34 Q87.1
MedGen 40 C0878684

Summaries for Short Syndrome

NIH Rare Diseases : 50 short syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. the term short is an acronym with each letter representing a common feature in affected individuals: (s) short stature; (h) hyperextensibility of joints and/or hernia (inguinal); (o) ocular depression (deep-set eyes); (r) rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (t) teething delay. other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. it is caused by mutations in the pik3r1 gene. inheritance is autosomal dominant. treatment focuses on the specific symptoms present in each individual. last updated: 3/7/2016

MalaCards based summary : Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly and teething delay, is related to short-rib thoracic dysplasia 3 with or without polydactyly and short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, and has symptoms including joint laxity, frontal bossing and clinodactyly. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are Akt Signaling and CREB Pathway. The drugs Cosyntropin and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and testes, and related phenotypes are liver/biliary system and muscle

Genetics Home Reference : 25 Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder that affects many parts of the body.

OMIM : 54 'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or... (269880) more...

UniProtKB/Swiss-Prot : 66 SHORT syndrome: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal.

Wikipedia : 71 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...

GeneReviews: NBK201365

Related Diseases for Short Syndrome

Diseases in the Short Syndrome family:

Short Qt Syndrome 1 Short Qt Syndrome 2
Short Qt Syndrome 3 Short Qt Syndrome
Familial Short Qt Syndrome

Diseases related to Short Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 164)
id Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 3 with or without polydactyly 12.1
2 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.1
3 short-rib thoracic dysplasia 6 with or without polydactyly 12.1
4 short-rib thoracic dysplasia 12 12.0
5 short bowel syndrome 12.0
6 short-rib thoracic dysplasia 8 with or without polydactyly 12.0
7 short-rib thoracic dysplasia 7 with or without polydactyly 12.0
8 short-rib thoracic dysplasia 10 with or without polydactyly 12.0
9 short-rib thoracic dysplasia 11 with or without polydactyly 12.0
10 short qt syndrome 12.0
11 acyl-coa dehydrogenase, short-chain, deficiency of 11.9
12 short-rib thoracic dysplasia 4 with or without polydactyly 11.9
13 short-rib thoracic dysplasia 5 with or without polydactyly 11.9
14 congenital short bowel syndrome 11.9
15 short qt syndrome 2 11.9
16 short qt syndrome 3 11.9
17 short-rib thoracic dysplasia 2 with or without polydactyly 11.9
18 short stature, optic nerve atrophy, and pelger-huet anomaly 11.9
19 spondylometaepiphyseal dysplasia, short limb-hand type 11.9
20 short-rib thoracic dysplasia 13 with or without polydactyly 11.9
21 short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 11.9
22 short stature, idiopathic familial 11.9
23 short-rib thoracic dysplasia 1 with or without polydactyly 11.9
24 short-rib thoracic dysplasia 9 with or without polydactyly 11.8
25 short stature, developmental delay, and congenital heart defects 11.8
26 short-rib thoracic dysplasia 14 with polydactyly 11.8
27 short qt syndrome 1 11.8
28 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.8
29 short stature with nonspecific skeletal abnormalities 11.8
30 multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 11.8
31 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.8
32 ectodermal dysplasia/short stature syndrome 11.8
33 osteochondritis dissecans, short stature, and early-onset osteoarthritis 11.8
34 congenital short femur 11.8
35 microcephaly, short stature, and impaired glucose metabolism 11.8
36 short stature, microcephaly, and endocrine dysfunction 11.8
37 short-rib thoracic dysplasia 15 with polydactyly 11.8
38 short-rib thoracic dysplasia 16 with or without polydactyly 11.8
39 psychosocial short stature 11.8
40 dental anomalies and short stature 11.8
41 developmental delay with short stature, dysmorphic features, and sparse hair 11.7
42 progeroid short stature with pigmented nevi 11.7
43 short stature, brachydactyly, intellectual developmental disability, and seizures 11.7
44 short stature with microcephaly and distinctive facies 11.7
45 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 11.7
46 short stature syndrome, brussels type 11.7
47 torsade de pointes, short-coupled variant 11.7
48 microcephaly, short stature, and impaired glucose metabolism 2 11.7
49 short-limb skeletal dysplasia with severe combined immunodeficiency 11.7
50 atrial tachyarrhythmia with short pr interval 11.7

Graphical network of the top 20 diseases related to Short Syndrome:



Diseases related to Short Syndrome

Symptoms & Phenotypes for Short Syndrome

Symptoms by clinical synopsis from OMIM:

269880

Clinical features from OMIM:

269880

Human phenotypes related to Short Syndrome:

32 (show all 37)
id Description HPO Frequency HPO Source Accession
1 joint laxity 32 HP:0001388
2 frontal bossing 32 HP:0002007
3 clinodactyly 32 HP:0030084
4 inguinal hernia 32 HP:0000023
5 macrotia 32 HP:0000400
6 cataract 32 HP:0000518
7 dental malocclusion 32 HP:0000689
8 delayed skeletal maturation 32 HP:0002750
9 wide nasal bridge 32 HP:0000431
10 delayed speech and language development 32 HP:0000750
11 sensorineural hearing impairment 32 HP:0000407
12 prominent forehead 32 HP:0011220
13 lipoatrophy 32 HP:0100578
14 micrognathia 32 HP:0000347
15 delayed eruption of teeth 32 HP:0000684
16 megalocornea 32 HP:0000485
17 thin skin 32 HP:0000963
18 underdeveloped nasal alae 32 HP:0000430
19 telecanthus 32 HP:0000506
20 myopia 32 HP:0000545
21 intrauterine growth retardation 32 HP:0001511
22 deeply set eye 32 HP:0000490
23 glaucoma 32 HP:0000501
24 abnormality of the immune system 32 HP:0002715
25 hypodontia 32 HP:0000668
26 triangular face 32 HP:0000325
27 chin dimple 32 HP:0010751
28 insulin-resistant diabetes mellitus 32 HP:0000831
29 lipodystrophy 32 HP:0009125
30 radial deviation of finger 32 HP:0009466
31 small for gestational age 32 HP:0001518
32 enlarged epiphyses 32 HP:0010580
33 glucose intolerance 32 HP:0000833
34 hyperglycemia 32 HP:0003074
35 rieger anomaly 32 HP:0000558
36 premature skin wrinkling 32 HP:0100678
37 birth length less than 3rd percentile 32 HP:0003561

UMLS symptoms related to Short Syndrome:


joint laxity

MGI Mouse Phenotypes related to Short Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.13 BMP4 IGF1R PIK3R1
2 muscle MP:0005369 8.8 BMP4 IGF1R PIK3R1

Drugs & Therapeutics for Short Syndrome

Drugs for Short Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 893)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cosyntropin Approved Phase 4 16960-16-0 16129617
2
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 51-43-4 5816
3
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 50-23-7 5754 657311
4
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
5
Citalopram Approved Phase 4 59729-33-8 2771
6
Metyrapone Approved Phase 4 54-36-4 4174
7
Aripiprazole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 129722-12-9 60795
8 Beractant Approved Phase 4,Phase 1,Phase 2 108778-82-1
9
Budesonide Approved Phase 4 51333-22-3 63006 5281004
10
Dinoprostone Approved Phase 4 363-24-6 5280360
11
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
12
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
13
Fexofenadine Approved Phase 4 83799-24-0 3348
14
Gabapentin Approved, Investigational Phase 4,Phase 2,Phase 3 60142-96-3 3446
15
Histamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 75614-87-8, 51-45-6 774
16
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
17
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
18
Cetrorelix Approved, Investigational Phase 4,Phase 1,Phase 2 120287-85-6 16129715 25074887
19
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757 53477783
20
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
21
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
22
Cyclobenzaprine Approved Phase 4 303-53-7 2895
23
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
24
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
25
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
26
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 124-94-7 31307
27
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
28
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
29
Eptifibatide Approved, Investigational Phase 4,Phase 3,Phase 2 188627-80-7 123610
30
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
31
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
32
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
33
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
34
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
35
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
36
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
37
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
38
Bivalirudin Approved, Investigational Phase 4,Phase 3 128270-60-0 16129704
39
Menthol Approved Phase 4,Phase 2,Phase 3 2216-51-5 16666
40
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3 154598-52-4 64139
41
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
42
Glycerol Approved, Experimental Phase 4,Phase 2 56-81-5 753
43
Loteprednol Approved Phase 4,Phase 3 82034-46-6, 129260-79-3 444025 9865442
44
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
45
Lopinavir Approved Phase 4,Phase 2,Phase 3 192725-17-0 92727
46
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
47
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
48
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
49
Acetaminophen Approved Phase 4,Phase 2,Early Phase 1 103-90-2 1983
50
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401

Interventional clinical trials:

(show top 50) (show all 1632)
id Name Status NCT ID Phase
1 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
2 The Efficacy of Hydrolyzed Guar Gum ( PHGG) in the Treatment of Patients With Irritable Bowel Syndrome (IBS) Unknown status NCT01779765 Phase 4
3 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
4 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4
5 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4
6 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4
7 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
8 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4
9 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4
10 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4
11 Surfactant Administration During Spontaneous Breathing Unknown status NCT01329432 Phase 4
12 Effects of Iloprost Treatment in Adult Patients With Pulmonary Arterial Hypertension Related to Congenital Heart Disease Unknown status NCT01383083 Phase 4
13 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
14 Gastric Functions & Proton Pump Inhibitor( PPI) Study Unknown status NCT00951431 Phase 4
15 Pregabalin for the Treatment of Uremic Pruritus Unknown status NCT01852318 Phase 4
16 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4
17 Comparison of Ovarian Mild Stimulation and Controlled Ovarian Stimulation in Poor Ovarian Responders Unknown status NCT01926210 Phase 4
18 Computerized Counseling to Promote Positive Prevention and HIV Health in Kenya Unknown status NCT01015989 Phase 4
19 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
20 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
21 Simvastatin in Patients With Septic Shock Unknown status NCT00450840 Phase 4
22 Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutations in Familial Adenomatous Polyposis Unknown status NCT02175914 Phase 4
23 Short Bowel Syndrome and Teduglutide Versus Placebo Completed NCT02099084 Phase 4
24 The Preventative and Therapeutical Effect of Ursodeoxycholic Acid(UDCA) to Short Bowel Syndrome Patients Completed NCT01974336 Phase 4
25 rHGH and Intestinal Permeability in Intestinal Failure Completed NCT01380366 Phase 4
26 Short-term Structured Exercise Training Program Plus Diet Intervention in Patients With Polycystic Ovary Syndrome (PCOS) Completed NCT01004068 Phase 4
27 Short-Term Versus Long-Term Treatment for Severe Premenstrual Syndrome (PMS) Completed NCT00318773 Phase 4
28 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
29 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
30 Short Versus Long Protocol for IVF and IVF+ICSI Completed NCT00756028 Phase 4
31 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
32 Polycystic Ovary Syndrome and Liraglutide Completed NCT01899430 Phase 4
33 Polycystic Ovary Syndrome and Liraglutide as Add-on Therapy on Metformin Completed NCT01911468 Phase 4
34 PDE-4 Inhibitor Roflumilast and GLP-1 Agonist Liraglutide in Polycystic Ovary Syndrome Completed NCT02187250 Phase 4
35 Combined Corticosteroid With Low Volume Compared to High Volume in Impingement Syndrome Completed NCT03120923 Phase 4
36 Efficacy and Safety of Lisdexamfetamine Dimesylate in Adults With Chronic Fatigue Syndrome Completed NCT01071044 Phase 4
37 Clinical Effects of Eptifibatide Administration in High Risk Patients Presenting With Non-ST Segment Elevation Acute Coronary Syndrome (NSTE-ACS) Requiring Urgent Coronary Artery Bypass Graft Surgery in Short- and Long-Term Follow-up Completed NCT01863134 Phase 4
38 An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome Completed NCT00401258 Phase 4
39 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4
40 Study to Evaluate the Efficacy of Botulinum Toxin Serotype A Injections for Cervicobrachial Myofascial Syndrome Completed NCT00241215 Phase 4
41 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
42 Vaginal Progesterone for Prevention of Preterm Labor in Asymptomatic Twin Pregnancies With Sonographic Short Cervix Completed NCT02338830 Phase 4
43 Norfloxacin In The Primary Prophylaxis Of Spontaneous Bacterial Peritonitis Completed NCT00359853 Phase 4
44 Clopidogrel Maintaining Dosage in Acute Coronary Syndrome After Drug Eluting Stent Implantation Completed NCT00404053 Phase 4
45 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
46 The Effects of Aripiprazole on Patients With Metabolic Syndrome Completed NCT00224822 Phase 4
47 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4
48 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4
49 Low Dose Liraglutide and Metformin vs. High Dose Liraglutide Alone in Treatment of Obesity Completed NCT02909933 Phase 4
50 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4

Search NIH Clinical Center for Short Syndrome

Genetic Tests for Short Syndrome

Genetic tests related to Short Syndrome:

id Genetic test Affiliating Genes
1 Short Syndrome 29 24

Anatomical Context for Short Syndrome

MalaCards organs/tissues related to Short Syndrome:

39
Eye, Skin, Testes, Bone

Publications for Short Syndrome

Articles related to Short Syndrome:

(show all 25)
id Title Authors Year
1
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. ( 28302518 )
2017
2
SHORT syndrome in a two-year-old girl - case report. ( 28472977 )
2017
3
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. ( 26252249 )
2015
4
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. ( 26497935 )
2015
5
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. ( 24886349 )
2014
6
Mutations in PIK3R1 cause SHORT syndrome. ( 23810382 )
2013
7
PIK3R1 mutations in SHORT syndrome. ( 23980586 )
2013
8
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
9
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. ( 24033310 )
2013
10
Short syndrome-an expanding phenotype. ( 23665600 )
2013
11
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
12
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. ( 18384141 )
2008
13
Is SHORT syndrome another phenotypic variation of PITX2? ( 15481036 )
2004
14
SHORT syndrome. ( 12514365 )
2003
15
SHORT syndrome: a case with high hyperopia and astigmatism. ( 11135494 )
2000
16
Case report on SHORT syndrome. ( 10457859 )
1999
17
SHORT syndrome: distinctive radiographic features. ( 9571279 )
1998
18
Rieger anomaly and congenital glaucoma in the SHORT syndrome. ( 8790109 )
1996
19
SHORT syndrome: a new case with probable autosomal dominant inheritance. ( 8669449 )
1996
20
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? ( 8574420 )
1995
21
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. ( 7949817 )
1994
22
SHORT syndrome and insulin resistance. ( 8279490 )
1993
23
SHORT Syndrome ( 24830046 )
1993
24
The SHORT syndrome: further delineation and natural history. ( 2664179 )
1989
25
Report of a case and further delineation of the SHORT syndrome. ( 4050863 )
1985

Variations for Short Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Short Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 PIK3R1 p.Glu489Lys VAR_070221 rs397514047
2 PIK3R1 p.Arg649Trp VAR_070223 rs397515453

ClinVar genetic disease variations for Short Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.1615_1617delATT (p.Ile539del) deletion Pathogenic rs397514046 GRCh37 Chromosome 5, 67591022: 67591024
2 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh37 Chromosome 5, 67590403: 67590403
3 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
4 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh37 Chromosome 5, 67592127: 67592127
5 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh37 Chromosome 5, 67592090: 67592091
6 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh37 Chromosome 5, 67592076: 67592076
7 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh38 Chromosome 5, 68296262: 68296263
8 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh37 Chromosome 5, 67592155: 67592155
9 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh37 Chromosome 5, 67589015: 67589015
10 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh37 Chromosome 5, 67590398: 67590398

Expression for Short Syndrome

Search GEO for disease gene expression data for Short Syndrome.

Pathways for Short Syndrome

Pathways related to Short Syndrome according to GeneCards Suite gene sharing:

(show all 34)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.95 BMP4 IGF1R PIK3R1
2
Show member pathways
12.86 BMP4 IGF1R PIK3R1
3
Show member pathways
12.82 BMP4 IGF1R PIK3R1
4
Show member pathways
12.78 BMP4 IGF1R PIK3R1
5
Show member pathways
12.5 BMP4 IGF1R PIK3R1
6
Show member pathways
12.46 BMP4 IGF1R PIK3R1
7
Show member pathways
12.11 BMP4 PIK3R1
8
Show member pathways
12.08 IGF1R PIK3R1
9
Show member pathways
12.07 IGF1R PIK3R1
10
Show member pathways
12.03 IGF1R PIK3R1
11 12.03 BMP4 IGF1R PIK3R1
12
Show member pathways
12 IGF1R PIK3R1
13
Show member pathways
11.98 IGF1R PIK3R1
14
Show member pathways
11.96 IGF1R PIK3R1
15 11.94 IGF1R PIK3R1
16
Show member pathways
11.83 IGF1R PIK3R1
17
Show member pathways
11.82 IGF1R PIK3R1
18
Show member pathways
11.81 IGF1R PIK3R1
19
Show member pathways
11.77 IGF1R PIK3R1
20
Show member pathways
11.77 IGF1R PIK3R1
21
Show member pathways
11.74 IGF1R PIK3R1
22 11.72 IGF1R PIK3R1
23 11.69 BMP4 PIK3R1
24
Show member pathways
11.68 IGF1R PIK3R1
25 11.63 IGF1R PIK3R1
26 11.57 BMP4 PIK3R1
27 11.54 IGF1R PIK3R1
28 11.47 IGF1R PIK3R1
29 11.4 IGF1R PIK3R1
30 11.2 IGF1R PIK3R1
31 10.98 IGF1R PIK3R1
32 10.94 BMP4 IGF1R PIK3R1
33 10.6 IGF1R PIK3R1
34 10.37 IGF1R PIK3R1

GO Terms for Short Syndrome

Biological processes related to Short Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.43 BMP4 IGF1R PIK3R1
2 phosphatidylinositol-mediated signaling GO:0048015 9.37 IGF1R PIK3R1
3 insulin receptor signaling pathway GO:0008286 9.32 IGF1R PIK3R1
4 phosphatidylinositol 3-kinase signaling GO:0014065 9.16 IGF1R PIK3R1
5 insulin-like growth factor receptor signaling pathway GO:0048009 8.96 IGF1R PIK3R1
6 positive regulation of cell migration GO:0030335 8.8 BMP4 IGF1R PIK3R1

Molecular functions related to Short Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.26 IGF1R PIK3R1
2 phosphatidylinositol 3-kinase binding GO:0043548 9.16 IGF1R PIK3R1
3 insulin receptor substrate binding GO:0043560 8.96 IGF1R PIK3R1
4 insulin binding GO:0043559 8.62 IGF1R PIK3R1

Sources for Short Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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