SHORTS
MCID: SHR029
MIFTS: 63

Short Syndrome (SHORTS)

Categories: Cardiovascular diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 57 11 24 19 42 58 75 73 28 5 43 14 38 71
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 57 11 42
Aarskog-Ose-Pande Syndrome 11 19 75
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 19 73
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 57 42
Partial Lipodystrophy with Rieger Anomaly and Short Stature 19 73
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome 11 58
Rieger Anomaly-Partial Lipodystrophy Syndrome 11 58
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 42
Growth Retardation-Rieger Anomaly 42
Shorts 73

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


GeneReviews:

24
Penetrance The penetrance of short syndrome appears complete in all individuals undergoing molecular genetic testing to date: all simplex cases (i.e., a single occurrence in a family) with parents available for testing have had a de novo...

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Short Syndrome

MedlinePlus Genetics: 42 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.Most people with SHORT syndrome are small at birth and gain weight slowly in childhood. Affected adults tend to have short stature compared with others in their family. Many have a lack of fatty tissue under the skin (lipoatrophy), primarily in the face, arms, and chest. This lack of fat, together with thin, wrinkled skin and veins visible beneath the skin, makes affected individuals look older than their biological age. This appearance of premature aging is sometimes described as progeroid.Most people with SHORT syndrome have distinctive facial features. These include a triangular face shape with a prominent forehead and deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common in affected individuals, particularly Rieger anomaly, which affects structures at the front of the eye. Rieger anomaly can be associated with increased pressure in the eye (glaucoma) and vision loss. Some people with SHORT syndrome also have dental abnormalities such as delayed appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than normal (hypodontia), and a lack of protective covering (enamel) on the surface of the teeth.Other signs and symptoms that have been reported in people with SHORT syndrome include immune system abnormalities, a kidney disorder known as nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft out-pouching in the lower abdomen called an inguinal hernia. A few affected individuals have developed problems with blood sugar regulation including insulin resistance and diabetes. Most people with SHORT syndrome have normal intelligence, although a few have been reported with mild cognitive impairment or delayed development of speech in childhood.

MalaCards based summary: Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to bursitis and inguinal hernia. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include eye, skin and bone, and related phenotypes are inguinal hernia and sensorineural hearing impairment

OMIM®: 57 '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) (Updated 08-Dec-2022)

GARD: 19 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 genetic changes in the PIK3R1 gene. Inheritance is autosomal dominant.

UniProtKB/Swiss-Prot: 73 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.

Orphanet: 58 A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.

Disease Ontology: 11 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 PIK3R1 on chromosome 5q13.

Wikipedia: 75 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 830)
# Related Disease Score Top Affiliating Genes
1 bursitis 30.3 TNF IL6 CRP
2 inguinal hernia 30.2 PIK3R1 INS IL6 CRP
3 contact dermatitis 30.1 TNF IL6 ICOSLG CD8A CD4
4 allergic contact dermatitis 30.1 TNF IL6 ICOSLG CD8A CD4
5 immunodeficiency 14a, autosomal dominant 29.9 PIK3R1 PIK3CD
6 glucose intolerance 29.8 TNF INS IL6 ESR1 CRP
7 insulin-like growth factor i 29.7 PIK3R1 INS IL6 IGF1R ESR1
8 agammaglobulinemia 29.7 TNF PIK3R1 IL6 ICOSLG
9 food allergy 29.7 TNF ICOSLG CD4
10 immunodeficiency 14 29.5 PIK3R1 PIK3CD ICOSLG CD8A CD4
11 common variable immunodeficiency 29.5 TNF PIK3CD INS IL6 ICOSLG
12 immune deficiency disease 29.3 TNF INS IL6 ICOSLG CRP CD8A
13 cataract 29.0 TNF SOD1 INS IL6 ESR1 CRYAA
14 diabetes mellitus 28.9 TNF SOD1 PIK3R1 INS IL6 IGF1R
15 type 2 diabetes mellitus 28.8 TNF SOD1 PIK3R1 INS IL6 IGF1R
16 short-rib thoracic dysplasia 6 with or without polydactyly 11.0
17 congenital short bowel syndrome 10.9
18 scirrhous adenocarcinoma 10.4 PGR ERBB2
19 lipid-rich breast carcinoma 10.4 PGR ERBB2
20 her2-receptor negative breast cancer 10.4 PGR ERBB2
21 interstitial keratitis 10.4 TNF CRYAA CRP
22 anterior scleritis 10.4 TNF CRP
23 bartholin's gland adenoma 10.4 PGR ESR1
24 uterine corpus adenosarcoma 10.4 PGR ESR1
25 bartholin's gland benign neoplasm 10.4 PGR ESR1
26 vestibular gland benign neoplasm 10.4 PGR ESR1
27 external pathological resorption 10.4 TNF IL6
28 glycogen-rich carcinoma 10.4 PGR ERBB2
29 posterior scleritis 10.4 TNF CRP
30 syphilitic meningitis 10.3 CRP CD4
31 micropapillomatosis labialis 10.3 ESR1 CD4
32 vulvar squamous papilloma 10.3 ESR1 CD4
33 adult cystic nephroma 10.3 PGR ESR1
34 malignant otitis externa 10.3 INS CRP
35 diffuse idiopathic skeletal hyperostosis 10.3 INS ERBB2 CRP
36 vagina leiomyosarcoma 10.3 PGR ESR1
37 vulvar benign neoplasm 10.3 PGR ESR1
38 physiological polycythemia 10.3 TNF IL6
39 rheumatoid arthritis interstitial lung disease 10.3 TNF CRP
40 ankylosis 10.3 TNF CRP BMP4
41 diffuse peritoneal leiomyomatosis 10.3 PGR ESR1
42 hilar lung neoplasm 10.3 CD8A CD4
43 peritoneal benign neoplasm 10.3 PGR ESR1
44 silent myocardial infarction 10.3 INS CRP
45 intestinal tuberculosis 10.3 TNF CRP CD4
46 progesterone resistance 10.3 PGR ESR1
47 panophthalmitis 10.3 CRP CD4
48 mikulicz disease 10.3 ICOSLG CRP CD4
49 vagina sarcoma 10.3 PGR IGF1R ESR1
50 nipple carcinoma 10.3 PGR ESR1 ERBB2

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



Diseases related to Short Syndrome

Symptoms & Phenotypes for Short Syndrome

Human phenotypes related to Short Syndrome:

58 30 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000023
2 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000407
3 hypoplasia of the iris 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007676
4 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000490
5 joint hyperflexibility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005692
6 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
7 neurological speech impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002167
8 diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000819
9 microdontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000691
10 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
11 lipodystrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0009125
12 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
13 abnormal pupil morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000615
14 megalocornea 58 30 Frequent (33%) Frequent (79-30%)
HP:0000485
15 weight loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0001824
16 midface retrusion 58 30 Frequent (33%) Frequent (79-30%)
HP:0011800
17 poor appetite 58 30 Frequent (33%) Frequent (79-30%)
HP:0004396
18 insulin resistance 58 30 Frequent (33%) Frequent (79-30%)
HP:0000855
19 excessive wrinkled skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0007392
20 sparse hair 30 Frequent (33%) HP:0008070
21 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
22 corneal opacity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007957
23 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
24 prominent supraorbital ridges 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000336
25 wide nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000431
26 prominent forehead 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011220
27 brachydactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001156
28 malar flattening 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000272
29 posterior embryotoxon 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000627
30 telecanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000506
31 triangular face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000325
32 short palm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004279
33 abnormal anterior chamber morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000593
34 abnormal mandible morphology 30 Occasional (7.5%) HP:0000277
35 frontal bossing 30 HP:0002007
36 cataract 30 HP:0000518
37 delayed skeletal maturation 30 HP:0002750
38 macrotia 30 HP:0000400
39 dental malocclusion 30 HP:0000689
40 abnormality of the dentition 58 Frequent (79-30%)
41 delayed speech and language development 30 HP:0000750
42 lipoatrophy 30 HP:0100578
43 intrauterine growth retardation 30 HP:0001511
44 micrognathia 30 HP:0000347
45 myopia 30 HP:0000545
46 joint laxity 30 HP:0001388
47 abnormality of the immune system 30 HP:0002715
48 hypotrichosis 58 Frequent (79-30%)
49 downturned corners of mouth 30 HP:0002714
50 delayed eruption of teeth 30 HP:0000684

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary External Genitalia Male:
inguinal hernia

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

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
myopia
glaucoma
telecanthus
megalocornea
rieger anomaly
more
Head And Neck Teeth:
hypodontia
malocclusion
delayed dental eruption

Laboratory Abnormalities:
hyperglycemia

Head And Neck Ears:
large ears
hearing loss, sensorineural

Skeletal Limbs:
large epiphyses
gracile diaphyses

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

Head And Neck Nose:
wide nasal bridge
hypoplastic nasal alae

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

Endocrine Features:
glucose intolerance
insulin resistant diabetes

Skeletal:
joint laxity
delayed bone age

Skeletal Hands:
clinodactyly

Neurologic Central Nervous System:
normal intelligence
speech delay

Head And Neck Mouth:
downturned corners of the mouth

Growth Weight:
birth weight less than 3rd percentile

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

Clinical features from OMIM®:

269880 (Updated 08-Dec-2022)

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

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.25 MAPKAP1
2 Decreased viability GR00173-A 10.25 MAPKAP1
3 Decreased viability GR00221-A-1 10.25 IGF1R PIK3CD PIK3R1 ESR1 MAPKAP1 PRKCE
4 Decreased viability GR00221-A-2 10.25 IGF1R SOD1 ESR1 MAPKAP1
5 Decreased viability GR00221-A-3 10.25 ERBB2 IGF1R PIK3CD PIK3R1 SOD1
6 Decreased viability GR00221-A-4 10.25 ERBB2 SOD1 ESR1 PRKCE
7 Decreased viability GR00249-S 10.25 SOD1 MAPKAP1
8 Decreased viability GR00301-A 10.25 IGF1R MAPKAP1
9 Decreased viability GR00342-S-2 10.25 IGF1R
10 Decreased viability GR00386-A-1 10.25 ESR1
11 Decreased viability GR00402-S-2 10.25 IGF1R ESR1
12 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.46 ESR1 INS PIK3R1 TNF
13 Decreased viability after gemcitabine stimulation GR00107-A-2 8.8 MAPKAP1 PIK3CD PIK3R1

MGI Mouse Phenotypes related to Short Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 BMP4 CD4 CRP ERBB2 ESR1 ICOSLG
2 cellular MP:0005384 10.27 BMP4 CD4 CD8A CRYAA ERBB2 ESR1
3 endocrine/exocrine gland MP:0005379 10.25 BMP4 CD4 CD8A ERBB2 ESR1 IGF1R
4 muscle MP:0005369 10.19 BMP4 ERBB2 ESR1 IGF1R IL6 INS
5 cardiovascular system MP:0005385 10.17 BMP4 CRP ERBB2 ESR1 IGF1R IL6
6 neoplasm MP:0002006 10.11 ERBB2 ESR1 IGF1R IL6 PGR PIK3R1
7 immune system MP:0005387 10.1 CD4 CD8A CRP ESR1 ICOSLG IGF1R
8 liver/biliary system MP:0005370 10.08 BMP4 ESR1 IGF1R IL6 INS PIK3R1
9 digestive/alimentary MP:0005381 10.06 BMP4 CD4 ERBB2 ESR1 IGF1R IL6
10 skeleton MP:0005390 9.85 BMP4 ERBB2 ESR1 IGF1R IL6 INS
11 hematopoietic system MP:0005397 9.83 BMP4 CD4 CD8A ERBB2 ESR1 ICOSLG
12 integument MP:0010771 9.4 BMP4 CD4 CD8A ERBB2 ESR1 IGF1R

Drugs & Therapeutics for Short Syndrome

Search Clinical Trials, NIH Clinical Center for Short Syndrome

Cochrane evidence based reviews: short syndrome

Genetic Tests for Short Syndrome

Genetic tests related to Short Syndrome:

# Genetic test Affiliating Genes
1 Short Syndrome 28 PIK3R1

Anatomical Context for Short Syndrome

Organs/tissues related to Short Syndrome:

MalaCards : Eye, Skin, Bone, Kidney, Spinal Cord, Subthalamic Nucleus, Heart

Publications for Short Syndrome

Articles related to Short Syndrome:

(show top 50) (show all 516)
# Title Authors PMID Year
1
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 62 24 57 5
23810379 2013
2
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 62 24 57 5
23810378 2013
3
Mutations in PIK3R1 cause SHORT syndrome. 62 24 57 5
23810382 2013
4
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. 62 24 57 5
18384141 2008
5
SHORT syndrome. 62 24 57 5
12514365 2003
6
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? 62 24 57 5
8574420 1995
7
Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. 24 57 5
6407320 1983
8
SHORT syndrome: a case with high hyperopia and astigmatism. 62 57 5
11135494 2000
9
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. 62 24 5
28302518 2017
10
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 62 24 5
27076228 2016
11
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. 62 24 57
26497935 2016
12
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 62 24 5
24886349 2014
13
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 62 24 57
21340693 2011
14
Is SHORT syndrome another phenotypic variation of PITX2? 62 24 57
15481036 2004
15
Rieger anomaly and congenital glaucoma in the SHORT syndrome. 62 24 57
8790109 1996
16
SHORT syndrome and insulin resistance. 62 24 57
8279490 1993
17
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 24 5
22351933 2012
18
SHORT syndrome: a new case with probable autosomal dominant inheritance. 62 57
8669449 1996
19
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. 62 57
7949817 1994
20
Report of a case and further delineation of the SHORT syndrome. 62 57
4050863 1985
21
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. 5
34008892 2021
22
Whole-genome sequencing of a sporadic primary immunodeficiency cohort. 5
32499645 2020
23
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. 62 24
32233106 2020
24
Metformin paradoxically worsens insulin resistance in SHORT syndrome. 62 24
31583022 2019
25
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. 62 24
28934384 2017
26
SHORT syndrome in a two-year-old girl - case report. 62 24
28472977 2017
27
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. 5
27693481 2016
28
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 62 24
27766312 2016
29
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature. 5
27116393 2016
30
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
31
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 5
26529633 2016
32
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. 62 24
26252249 2015
33
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. 5
25939554 2015
34
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 5
25488983 2014
35
A human immunodeficiency caused by mutations in the PIK3R1 gene. 5
25133428 2014
36
PIK3R1 mutations in SHORT syndrome. 62 24
23980586 2014
37
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
38
SHORT syndrome: distinctive radiographic features. 62 24
9571279 1998
39
The SHORT syndrome: further delineation and natural history. 62 24
2664179 1989
40
Sibs with growth deficiency, delayed bone age, congenital hip dislocation, and iridocorneal abnormalities with glaucoma. 57
2729352 1989
41
A new desensitizing dentifrice: preliminary report. 5
269880 1977
42
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor. 24
29476696 2018
43
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. 24
15928254 2005
44
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. 24
14985297 2004
45
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. 24
14657428 2003
46
Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity. 24
10768093 2000
47
Malformation syndromes. A selected miscellany. 24
819054 1975
48
Different fractions from wheat flour provide distinctive phenolic profiles and different bioaccessibility of polyphenols following in vitro digestion. 62
36240571 2023
49
SHORT Syndrome: an Update on Pathogenesis and Clinical Spectrum. 62
36401775 2022
50
Responsiveness of electromyographically assessed skeletal muscle inactivity: methodological exploration and implications for health benefits. 62
36460701 2022

Variations for Short Syndrome

ClinVar genetic disease variations for Short Syndrome:

5 (show top 50) (show all 253)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3R1 NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter) SNV Pathogenic
1370470 GRCh37: 5:67569823-67569823
GRCh38: 5:68273995-68273995
2 PIK3R1 NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs) DUP Pathogenic
1393351 GRCh37: 5:67589575-67589576
GRCh38: 5:68293747-68293748
3 PIK3R1 NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter) SNV Pathogenic
1452339 GRCh37: 5:67569789-67569789
GRCh38: 5:68273961-68273961
4 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del DEL Pathogenic
935112 rs1747531444 GRCh37: 5:67589638-67589663
GRCh38: 5:68293810-68293835
5 PIK3R1 NM_181523.3(PIK3R1):c.916+1G>A SNV Pathogenic
1686070 GRCh37: 5:67576835-67576835
GRCh38: 5:68281007-68281007
6 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic
156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
7 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) DEL Pathogenic
648899 rs1580260232 GRCh37: 5:67588135-67588135
GRCh38: 5:68292307-68292307
8 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV Pathogenic
376258 rs1057519838 GRCh37: 5:67589618-67589618
GRCh38: 5:68293790-68293790
9 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) DUP Pathogenic
571336 rs1561299903 GRCh37: 5:67591115-67591116
GRCh38: 5:68295287-68295288
10 PIK3R1 NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) INSERT Pathogenic
60765 rs398122385 GRCh37: 5:67592090-67592091
GRCh38: 5:68296262-68296263
11 PIK3R1 NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter) SNV Pathogenic
1072261 GRCh37: 5:67576819-67576819
GRCh38: 5:68280991-68280991
12 PIK3R1 NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter) SNV Pathogenic
48646 rs397509384 GRCh37: 5:67576811-67576811
GRCh38: 5:68280983-68280983
13 PIK3R1 NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) DUP Pathogenic
60764 rs398122384 GRCh37: 5:67592126-67592127
GRCh38: 5:68296298-68296299
14 PIK3R1 NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del) MICROSAT Pathogenic
60761 rs397514046 GRCh37: 5:67591019-67591021
GRCh38: 5:68295191-68295193
15 PIK3R1 NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) SNV Pathogenic
60762 rs397514047 GRCh37: 5:67590403-67590403
GRCh38: 5:68294575-68294575
16 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic
Pathogenic
60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
17 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic
Pathogenic/Likely Pathogenic
372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
18 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic
156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
19 PIK3R1 NM_181523.3(PIK3R1):c.502+1G>T SNV Likely Pathogenic
1687455 GRCh37: 5:67569842-67569842
GRCh38: 5:68274014-68274014
20 PIK3R1 NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) SNV Likely Pathogenic
159719 rs587784325 GRCh37: 5:67589015-67589015
GRCh38: 5:68293187-68293187
21 PIK3R1 NM_181523.3(PIK3R1):c.1300-5_1320del DEL Likely Pathogenic
1524499 GRCh37: 5:67589531-67589556
GRCh38: 5:68293703-68293728
22 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G SNV Likely Pathogenic
827732 rs1403833564 GRCh37: 5:67589535-67589535
GRCh38: 5:68293707-68293707
23 PIK3R1 NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser) SNV Likely Pathogenic
209182 rs797045063 GRCh37: 5:67590398-67590398
GRCh38: 5:68294570-68294570
24 PIK3R1 NM_181523.3(PIK3R1):c.502+1G>C SNV Likely Pathogenic
928571 rs773461483 GRCh37: 5:67569842-67569842
GRCh38: 5:68274014-68274014
25 PIK3R1 NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del) DEL Likely Pathogenic
976243 rs1747639986 GRCh37: 5:67591012-67591026
GRCh38: 5:68295184-68295198
26 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>T SNV Conflicting Interpretations Of Pathogenicity
625995 rs144312303 GRCh37: 5:67586574-67586574
GRCh38: 5:68290746-68290746
27 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) SNV Uncertain Significance
645272 rs1264292969 GRCh37: 5:67575481-67575481
GRCh38: 5:68279653-68279653
28 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) SNV Uncertain Significance
661141 rs1580173662 GRCh37: 5:67522673-67522673
GRCh38: 5:68226845-68226845
29 PIK3R1 NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe) SNV Uncertain Significance
834213 rs1184502086 GRCh37: 5:67576473-67576473
GRCh38: 5:68280645-68280645
30 PIK3R1 NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu) SNV Uncertain Significance
841166 rs1746794995 GRCh37: 5:67576443-67576443
GRCh38: 5:68280615-68280615
31 PIK3R1 NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile) SNV Uncertain Significance
843492 rs1744300386 GRCh37: 5:67522760-67522760
GRCh38: 5:68226932-68226932
32 PIK3R1 NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys) SNV Uncertain Significance
847379 rs762818071 GRCh37: 5:67593422-67593422
GRCh38: 5:68297594-68297594
33 PIK3R1 NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu) SNV Uncertain Significance
848444 rs765178503 GRCh37: 5:67590446-67590446
GRCh38: 5:68294618-68294618
34 PIK3R1 NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val) SNV Uncertain Significance
849630 rs1747703922 GRCh37: 5:67592028-67592028
GRCh38: 5:68296200-68296200
35 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) SNV Uncertain Significance
835242 rs112487959 GRCh37: 5:67575441-67575441
GRCh38: 5:68279613-68279613
36 PIK3R1 NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) SNV Uncertain Significance
463164 rs755043940 GRCh37: 5:67522705-67522705
GRCh38: 5:68226877-68226877
37 PIK3R1 NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser) SNV Uncertain Significance
463170 rs142439210 GRCh37: 5:67588131-67588131
GRCh38: 5:68292303-68292303
38 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>C SNV Uncertain Significance
532022 rs749016701 GRCh37: 5:67588195-67588195
GRCh38: 5:68292367-68292367
39 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) SNV Uncertain Significance
568563 rs771919405 GRCh37: 5:67575538-67575538
GRCh38: 5:68279710-68279710
40 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) SNV Uncertain Significance
575186 rs758929943 GRCh37: 5:67575431-67575431
GRCh38: 5:68279603-68279603
41 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) SNV Uncertain Significance
576303 rs540361957 GRCh37: 5:67576370-67576370
GRCh38: 5:68280542-68280542
42 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>G SNV Uncertain Significance
578937 rs1561289181 GRCh37: 5:67576349-67576349
GRCh38: 5:68280521-68280521
43 PIK3R1 NM_181523.3(PIK3R1):c.736C>A (p.His246Asn) SNV Uncertain Significance
1450502 GRCh37: 5:67576457-67576457
GRCh38: 5:68280629-68280629
44 PIK3R1 NM_181523.3(PIK3R1):c.917-4792G>A SNV Uncertain Significance
1342396 GRCh37: 5:67583295-67583295
GRCh38: 5:68287467-68287467
45 PIK3R1 NM_181523.3(PIK3R1):c.526A>G (p.Met176Val) SNV Uncertain Significance
135040 rs200820769 GRCh37: 5:67575453-67575453
GRCh38: 5:68279625-68279625
46 PIK3R1 NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro) SNV Uncertain Significance
1354488 GRCh37: 5:67522622-67522622
GRCh38: 5:68226794-68226794
47 PIK3R1 NM_181523.3(PIK3R1):c.917-14_917-9del MICROSAT Uncertain Significance
1403853 GRCh37: 5:67588066-67588071
GRCh38: 5:68292238-68292243
48 PIK3R1 NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln) SNV Uncertain Significance
1361868 GRCh37: 5:67589169-67589169
GRCh38: 5:68293341-68293341
49 PIK3R1 NM_181523.3(PIK3R1):c.1569-3C>T SNV Uncertain Significance
1377566 GRCh37: 5:67590973-67590973
GRCh38: 5:68295145-68295145
50 PIK3R1 NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile) SNV Uncertain Significance
1414170 GRCh37: 5:67522723-67522723
GRCh38: 5:68226895-68226895

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

73
# Symbol AA change Variation ID SNP ID
1 PIK3R1 p.Glu489Lys VAR_070221 rs397514047
2 PIK3R1 p.Arg649Trp VAR_070223 rs397515453

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 top 50) (show all 67)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CD4 CD8A CRP ICOSLG IL6 MAPKAP1
2
Show member pathways
13.85 BMP4 CD4 ERBB2 ESR1 IGF1R IL6
3 13.66 ERBB2 ESR1 IGF1R IL6 INS MAPKAP1
4
Show member pathways
13.65 BMP4 CD4 ERBB2 IGF1R IL6 INS
5
Show member pathways
13.53 BMP4 CD4 ERBB2 IGF1R IL6 INS
6
Show member pathways
13.43 BMP4 CD4 ERBB2 IGF1R IL6 PIK3R1
7
Show member pathways
13.25 TNF PRKCE PIK3R1 IL6 IGF1R ERBB2
8
Show member pathways
13.22 TNF PRKCE PIK3R1 IL6 IGF1R ESR1
9
Show member pathways
13.08 PRKCE PIK3R1 INS IL6 IGF1R BMP4
10
Show member pathways
13.04 PRKCE PIK3R1 PIK3CD MAPKAP1 INS ESR1
11
Show member pathways
12.88 PRKCE PIK3R1 PIK3CD IL6 IGF1R ERBB2
12
Show member pathways
12.87 IL6 INS PIK3CD PIK3R1 PRKCE TNF
13
Show member pathways
12.86 TNF PIK3R1 PIK3CD INS IL6
14
Show member pathways
12.73 TNF PRKCE PIK3R1 IL6 BMP4
15
Show member pathways
12.66 TNF PRKCE PIK3R1 IL6 IGF1R BMP4
16
Show member pathways
12.6 PIK3R1 PIK3CD MAPKAP1 INS ESR1 ERBB2
17 12.58 ERBB2 ESR1 IGF1R INS MAPKAP1 PGR
18
Show member pathways
12.51 PRKCE PIK3R1 PIK3CD ERBB2
19
Show member pathways
12.45 PRKCE PIK3R1 PIK3CD ESR1 ERBB2
20
Show member pathways
12.43 PIK3R1 PIK3CD IGF1R ESR1
21
Show member pathways
12.43 PRKCE PIK3R1 PIK3CD IGF1R ERBB2
22
Show member pathways
12.42 PRKCE PIK3R1 PIK3CD ESR1
23
Show member pathways
12.38 TNF PIK3R1 PIK3CD IL6 ERBB2 CD4
24
Show member pathways
12.37 PRKCE PIK3R1 IL6 IGF1R ERBB2 BMP4
25
Show member pathways
12.37 PIK3R1 MAPKAP1 ICOSLG CD8A CD4
26
Show member pathways
12.34 TNF PIK3R1 PIK3CD IL6
27 12.32 PIK3R1 PIK3CD IGF1R ERBB2
28
Show member pathways
12.27 PIK3R1 PIK3CD IGF1R ESR1 ERBB2
29
Show member pathways
12.16 TNF PIK3R1 PIK3CD IGF1R
30
Show member pathways
12.15 PIK3R1 IL6 IGF1R ERBB2
31
Show member pathways
12.1 PIK3R1 PGR ESR1 ERBB2
32 12.09 TNF INS IL6 BMP4
33 12.01 TNF IL6 CD8A CD4
34
Show member pathways
11.98 PRKCE PIK3R1 PIK3CD ERBB2
35
Show member pathways
11.9 TNF PIK3R1 PIK3CD CD8A CD4
36 11.81 TNF CD8A CD4
37
Show member pathways
11.81 PRKCE PIK3R1 PIK3CD
38
Show member pathways
11.8 PIK3R1 PIK3CD IGF1R
39 11.78 PIK3R1 IL6 CD4
40
Show member pathways
11.72 IL6 CRP CD8A CD4
41 11.71 SOD1 PGR ESR1
42 11.66 TNF IL6 CD8A CD4
43 11.65 ESR1 IL6 INS
44 11.65 CD4 MAPKAP1 PIK3R1
45
Show member pathways
11.64 PRKCE PIK3R1 PIK3CD ERBB2
46 11.64 PIK3R1 MAPKAP1 IGF1R ERBB2
47 11.62 PIK3R1 IL6 IGF1R
48 11.61 TNF IL6 ICOSLG CRP
49
Show member pathways
11.6 PIK3R1 PIK3CD PGR IGF1R ESR1 ERBB2
50 11.58 TNF PIK3R1 PIK3CD MAPKAP1 IGF1R ERBB2

GO Terms for Short Syndrome

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.23 TNF PIK3R1 PIK3CD IL6 IGF1R CD8A
2 signal transduction GO:0007165 10.18 BMP4 CD4 ERBB2 ESR1 ICOSLG IGF1R
3 positive regulation of protein kinase B signaling GO:0051897 10.13 IGF1R INS PIK3CD TNF
4 positive regulation of gene expression GO:0010628 10.13 TNF PIK3CD PGR INS IL6 ERBB2
5 phosphorylation GO:0016310 10.11 PRKCE PIK3R1 PIK3CD MAPKAP1 IGF1R ERBB2
6 positive regulation of cytokine production GO:0001819 10.08 INS PIK3CD SOD1 TNF
7 T cell activation GO:0042110 10.03 PIK3CD ICOSLG CD8A CD4
8 acute-phase response GO:0006953 10.01 INS IL6 CRP
9 positive regulation of smooth muscle cell proliferation GO:0048661 10.01 TNF IL6 IGF1R BMP4
10 phosphatidylinositol 3-kinase signaling GO:0014065 9.97 ERBB2 IGF1R PIK3CD PIK3R1
11 negative regulation of immature T cell proliferation in thymus GO:0033088 9.87 ERBB2 BMP4
12 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.86 ESR1 BMP4
13 positive regulation of protein-containing complex disassembly GO:0043243 9.85 TNF IGF1R
14 negative regulation of apoptotic process GO:0043066 9.83 BMP4 CRYAA ERBB2 IGF1R IL6 MAPKAP1
15 steroid hormone mediated signaling pathway GO:0043401 9.8 PGR ESR1 BMP4
16 negative regulation of lipid storage GO:0010888 9.8 TNF IL6 CRP
17 positive regulation of MAPK cascade GO:0043410 9.58 TNF SOD1 PRKCE INS IL6 IGF1R

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.7 PRKCE PIK3R1 PIK3CD MAPKAP1 IGF1R ERBB2
2 identical protein binding GO:0042802 9.66 CD4 CRP CRYAA ERBB2 ESR1 ICOSLG
3 insulin binding GO:0043559 9.62 PIK3R1 IGF1R
4 ErbB-3 class receptor binding GO:0043125 9.56 PIK3R1 ERBB2
5 insulin receptor binding GO:0005158 9.43 PIK3R1 INS IGF1R

Sources for Short Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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