MCID: SHR029
MIFTS: 61

Short Syndrome

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

Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 54 23 50 24 25 56 71 29 69
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 50 71
Partial Lipodystrophy with Rieger Anomaly and Short Stature 50 71
Aarskog-Ose-Pande Syndrome 50 56
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
Shorts 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
short is an acronym for short stature, hyperextensibility of joints/hernia, ocular depression, rieger anomaly, teething delay
de novo mutation identified in some patients


HPO:

32
short syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Short Syndrome

NIH Rare Diseases : 50 short syndromeis 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 myopia, micrognathia and prominent forehead. 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, brain and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and liver/biliary system

UniProtKB/Swiss-Prot : 71 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.

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 hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was given by Gorlin (1975), who described the syndrome in 2 brothers. Dyment et al. (2013) noted that the features listed in the acronym for SHORT syndrome do not capture the full range of the clinical phenotype, which can include a recognizable facial gestalt consisting of triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, as well as near-universal partial lipodystrophy, insulin resistance, nephrocalcinosis, and hearing deficits. Notably, both developmental milestones and cognition are normal for individuals with SHORT syndrome. (269880)

Wikipedia : 72 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 166)
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 12.0
4 short-rib thoracic dysplasia 12 12.0
5 short bowel syndrome 12.0
6 short-rib thoracic dysplasia 7 with or without polydactyly 12.0
7 short-rib thoracic dysplasia 8 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 11.9
10 short qt syndrome 11.9
11 acyl-coa dehydrogenase, short-chain, deficiency of 11.9
12 congenital short bowel syndrome 11.9
13 short-rib thoracic dysplasia 2 with or without polydactyly 11.9
14 short-rib thoracic dysplasia 5 with or without polydactyly 11.9
15 short-rib thoracic dysplasia 4 with or without polydactyly 11.9
16 spondylometaepiphyseal dysplasia, short limb-hand type 11.9
17 short qt syndrome 2 11.9
18 short qt syndrome 3 11.9
19 short stature, optic nerve atrophy, and pelger-huet anomaly 11.9
20 short-rib thoracic dysplasia 13 with or without polydactyly 11.9
21 short stature, idiopathic familial 11.9
22 short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities 11.9
23 short-rib thoracic dysplasia 1 with or without polydactyly 11.9
24 short stature syndrome, brussels type 11.8
25 short stature with nonspecific skeletal abnormalities 11.8
26 short stature, developmental delay, and congenital heart defects 11.8
27 short-rib thoracic dysplasia 9 with or without polydactyly 11.8
28 short-rib thoracic dysplasia 14 with polydactyly 11.8
29 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 11.8
30 short-rib thoracic dysplasia 15 with polydactyly 11.8
31 short-rib thoracic dysplasia 16 with or without polydactyly 11.8
32 dental anomalies and short stature 11.8
33 developmental delay with short stature, dysmorphic features, and sparse hair 11.8
34 ectodermal dysplasia/short stature syndrome 11.8
35 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.8
36 osteochondritis dissecans, short stature, and early-onset osteoarthritis 11.8
37 short qt syndrome 1 11.8
38 congenital short femur 11.8
39 short-rib thoracic dysplasia 17 with or without polydactyly 11.8
40 costocoracoid ligament, congenitally short 11.8
41 short stature, brachydactyly, intellectual developmental disability, and seizures 11.8
42 short stature, microcephaly, and endocrine dysfunction 11.8
43 psychosocial short stature 11.8
44 microcephaly, short stature, and impaired glucose metabolism 1 11.8
45 blepharophimosis with ptosis, syndactyly, and short stature 11.8
46 progeroid short stature with pigmented nevi 11.7
47 cleft palate short stature vertebral anomalies 11.7
48 multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 11.7
49 ehlers-danlos syndrome with short stature and limb anomalies 11.7
50 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.7

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



Diseases related to Short Syndrome

Symptoms & Phenotypes for Short Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature
birth length less than 3rd percentile

Neurologic- Central Nervous System:
speech delay
normal intelligence

Head And Neck- Face:
micrognathia
prominent forehead
midface hypoplasia
triangular face
chin dimple

Endocrine Features:
glucose intolerance
insulin resistant diabetes

Growth- Other:
intrauterine growth retardation

Genitourinary- External Genitalia Male:
inguinal hernia

Head And Neck- Nose:
wide nasal bridge
hypoplastic nasal alae

Head And Neck- Mouth:
downturned corners of the mouth

Skin Nails & Hair- Skin:
dimples (chin, buttocks)
thin, wrinkled skin

Skeletal:
delayed bone age
joint laxity

Head And Neck- Eyes:
myopia
cataracts
glaucoma
megalocornea
telecanthus
more
Head And Neck- Ears:
large ears
hearing loss, sensorineural

Laboratory- Abnormalities:
hyperglycemia

Growth- Weight:
birth weight less than 3rd percentile

Skeletal- Hands:
clinodactyly

Head And Neck- Teeth:
malocclusion
hypodontia
delayed dental eruption

Skeletal- Limbs:
large epiphyses
gracile diaphyses

Muscle Soft Tissue:
lipoatrophy (lower face, upper limb, buttock)


Clinical features from OMIM:

269880

Human phenotypes related to Short Syndrome:

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

UMLS symptoms related to Short Syndrome:


joint laxity

GenomeRNAi Phenotypes related to Short Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.55 PIK3R1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.55 PIK3R1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.55 IGF1R
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.55 IGF1R
5 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.55 IGF1R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.55 IGF1R PIK3R1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.55 IGF1R PIK3R1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.55 IGF1R PIK3R1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 IGF1R PIK3R1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.55 IGF1R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.55 IGF1R
12 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 IGF1R
13 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 PIK3R1

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 819)
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 Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1
5
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
6
Citalopram Approved Phase 4 59729-33-8 2771
7
Metyrapone Approved Phase 4 54-36-4 4174
8
Aripiprazole Approved, Investigational Phase 4,Phase 2,Phase 3 129722-12-9 60795
9 Beractant Approved Phase 4,Phase 1,Phase 2 108778-82-1
10
Budesonide Approved Phase 4 51333-22-3 63006 5281004
11
Dinoprostone Approved Phase 4 363-24-6 5280360
12
Iloprost Approved, Investigational Phase 4 78919-13-8 6443959
13
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
14
Fexofenadine Approved Phase 4 83799-24-0 3348
15
Gabapentin Approved, Investigational Phase 4,Phase 2,Phase 3 60142-96-3 3446
16
Histamine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 75614-87-8, 51-45-6 774
17
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 148553-50-8 5486971
18
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
19
Cetrorelix Approved, Investigational Phase 4,Phase 1,Phase 2 120287-85-6 16129715 25074887
20
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
21
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
22
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
23
Cyclobenzaprine Approved Phase 4 303-53-7 2895
24
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
25
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Early Phase 1 124-94-7 31307
26
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
27
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
28
Eptifibatide Approved, Investigational Phase 4,Phase 3,Phase 2 188627-80-7 123610
29
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
30
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
31
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
32
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
34
Acetaminophen Approved Phase 4,Phase 2,Early Phase 1 103-90-2 1983
35
Bivalirudin Approved, Investigational Phase 4,Phase 3 128270-60-0 16129704
36
Menthol Approved Phase 4,Phase 3,Phase 2 2216-51-5 16666
37
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3 154598-52-4 64139
38
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
39
Glycerol Approved, Investigational Phase 4,Phase 2 56-81-5 753
40
Loteprednol Approved Phase 4 82034-46-6, 129260-79-3 444025 9865442
41
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 22916-47-8 4189
42
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
43
Lactulose Approved Phase 4 4618-18-2 11333
44
Mannitol Approved, Investigational Phase 4,Phase 3 69-65-8 453 6251
45
Sertraline Approved Phase 4 79617-96-2 68617
46
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
47
Nafarelin Approved Phase 4 76932-56-4 16129618 25077649
48
Liraglutide Approved Phase 4 204656-20-2 44147092
49
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 137-58-6 3676
50
Norepinephrine Approved Phase 4,Phase 3,Phase 2 51-41-2 439260

Interventional clinical trials:

(show top 50) (show all 1355)

id Name Status NCT ID Phase Drugs
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 Synacthen (Tetracosactrin)
4 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 DECARD: Study of Escitalopram in the Prevention of Depression in Patients With Acute Coronary Syndrome Unknown status NCT00140257 Phase 4 Escitalopram
6 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
7 Cortisol and Nutritional Sympathetic Responsiveness Unknown status NCT01620684 Phase 4 metyrapone;placebo
8 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
9 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
10 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
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 Esomeprazole;Placebo
15 Pregabalin for the Treatment of Uremic Pruritus Unknown status NCT01852318 Phase 4 pregabalin 75mg daily for 12 weeks;fexofenadine 60 mg daily for 12 weeks;placebo
16 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
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 cyclobenzaprine ER (AMRIX);placebo
20 Short Bowel Syndrome and Teduglutide Versus Placebo Completed NCT02099084 Phase 4 Teduglutide;Placebo
21 The Preventative and Therapeutical Effect of Ursodeoxycholic Acid(UDCA) to Short Bowel Syndrome Patients Completed NCT01974336 Phase 4 ursodeoxycholic acid
22 rHGH and Intestinal Permeability in Intestinal Failure Completed NCT01380366 Phase 4 Somatropin
23 Short-term Structured Exercise Training Program Plus Diet Intervention in Patients With Polycystic Ovary Syndrome (PCOS) Completed NCT01004068 Phase 4 Clomiphene citrate
24 Short-Term Versus Long-Term Treatment for Severe Premenstrual Syndrome (PMS) Completed NCT00318773 Phase 4 sertraline
25 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
26 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
27 Short Versus Long Protocol for IVF and IVF+ICSI Completed NCT00756028 Phase 4 Patients receiving short protocol IVF/ICSI-treatment.;Long protocol
28 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
29 Polycystic Ovary Syndrome and Liraglutide Completed NCT01899430 Phase 4 liraglutide;metformin
30 Polycystic Ovary Syndrome and Liraglutide as Add-on Therapy on Metformin Completed NCT01911468 Phase 4 metformin;liraglutide;metformin and liraglutide
31 PDE-4 Inhibitor Roflumilast and GLP-1 Agonist Liraglutide in Polycystic Ovary Syndrome Completed NCT02187250 Phase 4 metformin;liraglutide;roflumilast
32 Combined Corticosteroid With Low Volume Compared to High Volume in Impingement Syndrome Completed NCT03120923 Phase 4 Lidocaine 3 cc;Lidocaine 9 cc;Triamcinolone Acetonide
33 Efficacy and Safety of Lisdexamfetamine Dimesylate in Adults With Chronic Fatigue Syndrome Completed NCT01071044 Phase 4 Lisdexamfetamine Dimesylate;Placebo "30, 50 or 70 mg"
34 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 Eptifibatide;Placebo
35 An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome Completed NCT00401258 Phase 4 duloxetine
36 Long-term Efficacy, Safety and Tolerability of Pramipexole in Patients With Idiopathic Moderate to Severe Restless Legs Syndrome (RLS) Completed NCT00472199 Phase 4 Pramipexole;Placebo
37 Study to Evaluate the Efficacy of Botulinum Toxin Serotype A Injections for Cervicobrachial Myofascial Syndrome Completed NCT00241215 Phase 4 Botulinum toxin serotype A
38 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
39 Vaginal Progesterone for Prevention of Preterm Labor in Asymptomatic Twin Pregnancies With Sonographic Short Cervix Completed NCT02338830 Phase 4 Progesterone
40 Norfloxacin In The Primary Prophylaxis Of Spontaneous Bacterial Peritonitis Completed NCT00359853 Phase 4 Oral norfloxacin
41 Testing Responsiveness to Platelet Inhibition on Chronic Antiplatelet Treatment For Acute Coronary Syndromes Trial Completed NCT01959451 Phase 4 Prasugrel;Clopidogrel
42 Clopidogrel Maintaining Dosage in Acute Coronary Syndrome After Drug Eluting Stent Implantation Completed NCT00404053 Phase 4 Clopidogrel
43 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
44 The Effects of Aripiprazole on Patients With Metabolic Syndrome Completed NCT00224822 Phase 4 Aripiprazole
45 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
46 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
47 Low Dose Liraglutide and Metformin vs. High Dose Liraglutide Alone in Treatment of Obesity Completed NCT02909933 Phase 4 liraglutide;metformin and liraglutide
48 Bupivacaine Versus Lidocaine Local Anesthesia Completed NCT01751347 Phase 4 Bupivacaine;Lidocaine
49 An Eight Week, Double-Blind Efficacy Study of Armodafinil Augmentation to Alleviate Fibromyalgia Fatigue Completed NCT00678691 Phase 4 armodafinil;placebo
50 Effects of a Pectoralis Minor Muscle Stretching Protocol Completed NCT01956240 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, Brain, Liver, Testes, Lung, Heart, Skin

Publications for Short Syndrome

Articles related to Short Syndrome:

(show all 26)
id Title Authors Year
1
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase CE9) impairing TORC2-dependent AKT activation. ( 28934384 )
2017
2
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. ( 28302518 )
2017
3
SHORT syndrome in a two-year-old girl - case report. ( 28472977 )
2017
4
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. ( 26497935 )
2015
5
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. ( 26252249 )
2015
6
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. ( 24886349 )
2014
7
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
8
Short syndrome-an expanding phenotype. ( 23665600 )
2013
9
PIK3R1 mutations in SHORT syndrome. ( 23980586 )
2013
10
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. ( 24033310 )
2013
11
Mutations in PIK3R1 cause SHORT syndrome. ( 23810382 )
2013
12
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
13
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. ( 18384141 )
2008
14
Is SHORT syndrome another phenotypic variation of PITX2? ( 15481036 )
2004
15
SHORT syndrome. ( 12514365 )
2003
16
SHORT syndrome: a case with high hyperopia and astigmatism. ( 11135494 )
2000
17
Case report on SHORT syndrome. ( 10457859 )
1999
18
SHORT syndrome: distinctive radiographic features. ( 9571279 )
1998
19
Rieger anomaly and congenital glaucoma in the SHORT syndrome. ( 8790109 )
1996
20
SHORT syndrome: a new case with probable autosomal dominant inheritance. ( 8669449 )
1996
21
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? ( 8574420 )
1995
22
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. ( 7949817 )
1994
23
SHORT Syndrome ( 24830046 )
1993
24
SHORT syndrome and insulin resistance. ( 8279490 )
1993
25
The SHORT syndrome: further delineation and natural history. ( 2664179 )
1989
26
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:

71
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 GRCh38 Chromosome 5, 68293187: 68293187
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 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 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
12.77 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
12.09 BMP4 PIK3R1
8
Show member pathways
12.07 IGF1R PIK3R1
9
Show member pathways
12.06 IGF1R PIK3R1
10 12.03 BMP4 IGF1R PIK3R1
11
Show member pathways
12.02 IGF1R PIK3R1
12
Show member pathways
11.98 IGF1R PIK3R1
13
Show member pathways
11.95 IGF1R PIK3R1
14 11.93 IGF1R PIK3R1
15
Show member pathways
11.81 IGF1R PIK3R1
16
Show member pathways
11.79 IGF1R PIK3R1
17
Show member pathways
11.76 IGF1R PIK3R1
18
Show member pathways
11.76 IGF1R PIK3R1
19
Show member pathways
11.73 IGF1R PIK3R1
20 11.68 BMP4 PIK3R1
21
Show member pathways
11.66 IGF1R PIK3R1
22 11.62 IGF1R PIK3R1
23 11.56 BMP4 PIK3R1
24 11.52 IGF1R PIK3R1
25 11.5 IGF1R PIK3R1
26 11.45 IGF1R PIK3R1
27 11.2 IGF1R PIK3R1
28 10.98 IGF1R PIK3R1
29 10.94 BMP4 IGF1R PIK3R1
30 10.6 IGF1R PIK3R1
31 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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