SHORTS
MCID: SHR029
MIFTS: 58

Short Syndrome (SHORTS)

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

Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 57 12 73 25 20 43 58 72 36 29 6 44 15 70
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 57 12 43
Aarskog-Ose-Pande Syndrome 12 73 20
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 20 72
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 57 43
Partial Lipodystrophy with Rieger Anomaly and Short Stature 20 72
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome 12 58
Rieger Anomaly-Partial Lipodystrophy Syndrome 12 58
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 43
Growth Retardation-Rieger Anomaly 43
Syndrome, Short 39
Shorts 72

Characteristics:

Orphanet epidemiological data:

58
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
short syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 eye diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Short Syndrome

MedlinePlus Genetics : 43 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 glucose intolerance and apnea, obstructive sleep. An important gene associated with Short Syndrome is PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include eye, bone and colon, and related phenotypes are inguinal hernia and sensorineural hearing impairment

Disease Ontology : 12 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.

GARD : 20 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.

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 05-Apr-2021)

KEGG : 36 SHORT syndrome is a rare autosomal-dominant disorder characterized by short stature, hyperextensibility of joints, hernias, ocular depression, ophthalmic anomalies, teething delay, partial lipodystrophy, insulin resistance, and facial dysmorphic signs. Mutations in PIK3R1 cause this syndrome.

UniProtKB/Swiss-Prot : 72 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 : 73 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 389)
# Related Disease Score Top Affiliating Genes
1 glucose intolerance 29.9 TNF INS ESR1 CRP
2 apnea, obstructive sleep 29.8 TNF INS CRP
3 sleep apnea 29.8 TNF INS CRP
4 insulin-like growth factor i 29.7 PIK3R1 INS IGF1R ESR1
5 placenta disease 29.6 TNF INS CRP
6 type 2 diabetes mellitus 28.6 TP53 TNF SOD1 PIK3R1 INS IGF1R
7 diabetes mellitus 28.3 TP53 TNF SOD1 PRKCE PIK3R1 INS
8 cardiofacial syndrome short limbs 10.9
9 short qt syndrome 10.9
10 short qt syndrome 1 10.9
11 short qt syndrome 2 10.9
12 short qt syndrome 3 10.9
13 congenital short bowel syndrome 10.9
14 atelosteogenesis, type i 10.7
15 boomerang dysplasia 10.7
16 brachyolmia 10.7
17 growth hormone insensitivity with immunodeficiency 10.7
18 xp22.3 microdeletion syndrome 10.7
19 drug reaction with eosinophilia and systemic symptoms 10.4 TNF CRP
20 scirrhous adenocarcinoma 10.4 PGR ERBB2
21 bartholin's gland adenoid cystic carcinoma 10.4 PGR ESR1
22 uterine corpus adenosarcoma 10.4 PGR ESR1
23 chronic tympanitis 10.4 PGR ESR1
24 lipid-rich breast carcinoma 10.4 PGR ERBB2
25 anterior scleritis 10.4 TNF CRP
26 malignant otitis externa 10.4 INS CRP
27 uvulitis 10.4 INS CRP
28 granulomatous endometritis 10.4 PGR ESR1
29 vulvar syringoma 10.4 PGR ESR1
30 external ear carcinoma 10.4 PGR CRP
31 rheumatoid arthritis interstitial lung disease 10.4 TNF CRP
32 posterior scleritis 10.4 TNF CRP
33 breast squamous cell carcinoma 10.4 ESR1 ERBB2
34 lung leiomyoma 10.3 PGR ESR1
35 acute insulin response 10.3 PIK3R1 INS CRP
36 skeletal tuberculosis 10.3 TNF CRP
37 adult type testicular granulosa cell tumor 10.3 PGR ESR1
38 tuberculous epididymitis 10.3 TNF CRP
39 cervical clear cell adenocarcinoma 10.3 PGR ESR1
40 type 1 diabetes mellitus 23 10.3 TNF INS
41 autoimmune disease of eyes, ear, nose and throat 10.3 TNF ICOSLG CRYAA
42 vulvar vestibulitis syndrome 10.3 TNF ESR1
43 gastric papillary adenocarcinoma 10.3 TP53 ERBB2
44 cavernous sinus thrombosis 10.3 INS CRP
45 blood group, globoside system 10.3 TNF CRYAA CRP
46 lacrimal apparatus disease 10.3 TNF ICOSLG CRYAA
47 luminal breast carcinoma b 10.3 PGR ERBB2
48 benign pleural mesothelioma 10.3 TP53 INS
49 acute proliferative glomerulonephritis 10.3 TNF ICOSLG CRP
50 endophthalmitis 10.3 TNF CRYAA CRP

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 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0007676
4 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
5 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
6 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
7 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
8 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
9 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
10 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
11 lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009125
12 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
13 abnormal pupil morphology 58 31 frequent (33%) Frequent (79-30%) HP:0000615
14 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
15 megalocornea 58 31 frequent (33%) Frequent (79-30%) HP:0000485
16 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
17 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
18 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
19 excessive wrinkled skin 58 31 frequent (33%) Frequent (79-30%) HP:0007392
20 poor appetite 58 31 frequent (33%) Frequent (79-30%) HP:0004396
21 sparse hair 31 frequent (33%) HP:0008070
22 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
23 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
24 prominent supraorbital ridges 58 31 occasional (7.5%) Occasional (29-5%) HP:0000336
25 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
26 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
27 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
28 malar flattening 58 31 occasional (7.5%) Occasional (29-5%) HP:0000272
29 posterior embryotoxon 58 31 occasional (7.5%) Occasional (29-5%) HP:0000627
30 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
31 triangular face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000325
32 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
33 abnormality of the mandible 58 31 occasional (7.5%) Occasional (29-5%) HP:0000277
34 abnormal anterior chamber morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000593
35 frontal bossing 31 HP:0002007
36 cataract 31 HP:0000518
37 delayed skeletal maturation 31 HP:0002750
38 macrotia 31 HP:0000400
39 dental malocclusion 31 HP:0000689
40 abnormality of the dentition 58 Frequent (79-30%)
41 delayed speech and language development 31 HP:0000750
42 lipoatrophy 31 HP:0100578
43 intrauterine growth retardation 31 HP:0001511
44 micrognathia 31 HP:0000347
45 myopia 31 HP:0000545
46 joint laxity 31 HP:0001388
47 abnormality of the face 58 Frequent (79-30%)
48 delayed eruption of teeth 31 HP:0000684
49 abnormality of the immune system 31 HP:0002715
50 hypotrichosis 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Skeletal Hands:
clinodactyly

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

Laboratory Abnormalities:
hyperglycemia

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 05-Apr-2021)

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.98 MAPKAP1
2 Decreased viability GR00173-A 9.98 MAPKAP1
3 Decreased viability GR00221-A-1 9.98 ESR1 IGF1R MAPKAP1 PIK3R1 PRKCE
4 Decreased viability GR00221-A-2 9.98 ESR1 IGF1R MAPKAP1
5 Decreased viability GR00221-A-3 9.98 IGF1R PIK3R1
6 Decreased viability GR00221-A-4 9.98 ESR1 PRKCE
7 Decreased viability GR00249-S 9.98 MAPKAP1
8 Decreased viability GR00301-A 9.98 IGF1R MAPKAP1
9 Decreased viability GR00342-S-2 9.98 IGF1R
10 Decreased viability GR00386-A-1 9.98 ESR1
11 Decreased viability GR00402-S-2 9.98 ESR1 IGF1R
12 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.92 ESR1 INS PIK3R1 TNF

MGI Mouse Phenotypes related to Short Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 BMP4 CRP ERBB2 ESR1 IGF1R INS
2 cellular MP:0005384 10.29 BMP4 CHI3L1 ERBB2 ESR1 IGF1R INS
3 endocrine/exocrine gland MP:0005379 10.13 BMP4 ERBB2 ESR1 IGF1R INS PGR
4 embryo MP:0005380 10.11 BMP4 ERBB2 ESR1 IGF1R INS MAPKAP1
5 integument MP:0010771 10.1 BMP4 ERBB2 ESR1 IGF1R INS PGR
6 limbs/digits/tail MP:0005371 9.97 BMP4 ERBB2 ESR1 IGF1R PGR SPATS1
7 muscle MP:0005369 9.96 BMP4 ERBB2 ESR1 IGF1R INS PGR
8 liver/biliary system MP:0005370 9.92 BMP4 ESR1 IGF1R INS PIK3R1 SOD1
9 neoplasm MP:0002006 9.76 ERBB2 ESR1 IGF1R PGR PIK3R1 SOD1
10 reproductive system MP:0005389 9.65 BMP4 ERBB2 ESR1 IGF1R INS PGR
11 skeleton MP:0005390 9.32 BMP4 ERBB2 ESR1 IGF1R INS PGR

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 29 PIK3R1

Anatomical Context for Short Syndrome

MalaCards organs/tissues related to Short Syndrome:

40
Eye, Bone, Colon, Thyroid

Publications for Short Syndrome

Articles related to Short Syndrome:

(show top 50) (show all 72)
# Title Authors PMID Year
1
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. 61 25 6 57
23810378 2013
2
Mutations in PIK3R1 cause SHORT syndrome. 61 6 25 57
23810382 2013
3
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. 6 61 25 57
23810379 2013
4
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. 61 6 25 57
18384141 2008
5
SHORT syndrome. 25 61 57 6
12514365 2003
6
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? 61 25 6 57
8574420 1995
7
Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes. 25 6 57
6407320 1983
8
SHORT syndrome: a case with high hyperopia and astigmatism. 61 6 57
11135494 2000
9
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. 6 25 61
28302518 2017
10
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations. 25 6 61
27766312 2016
11
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature. 61 25 6
27076228 2016
12
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. 57 25 61
26497935 2016
13
PIK3R1 mutations in SHORT syndrome. 61 6 25
23980586 2014
14
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. 6 25 61
24886349 2014
15
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. 61 25 57
21340693 2011
16
Is SHORT syndrome another phenotypic variation of PITX2? 25 57 61
15481036 2004
17
Rieger anomaly and congenital glaucoma in the SHORT syndrome. 61 25 57
8790109 1996
18
SHORT syndrome and insulin resistance. 61 25 57
8279490 1993
19
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K. 25 6
22351933 2012
20
Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase. 6 61
28632845 2017
21
PI3-kinase mutation linked to insulin and growth factor resistance in vivo. 6 61
26974159 2016
22
SHORT syndrome: a new case with probable autosomal dominant inheritance. 57 61
8669449 1996
23
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. 61 57
7949817 1994
24
Report of a case and further delineation of the SHORT syndrome. 57 61
4050863 1985
25
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants. 25 61
32233106 2020
26
Metformin paradoxically worsens insulin resistance in SHORT syndrome. 61 25
31583022 2019
27
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation. 61 25
28934384 2017
28
SHORT syndrome in a two-year-old girl - case report. 61 25
28472977 2017
29
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. 6
27693481 2016
30
Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature. 6
27116393 2016
31
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
32
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly. 6
26529633 2016
33
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. 25 61
26252249 2015
34
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype. 6
25939554 2015
35
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. 6
25488983 2014
36
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
37
A human immunodeficiency caused by mutations in the PIK3R1 gene. 6
25133428 2014
38
SHORT syndrome: distinctive radiographic features. 25 61
9571279 1998
39
The SHORT syndrome: further delineation and natural history. 25 61
2664179 1989
40
Sibs with growth deficiency, delayed bone age, congenital hip dislocation, and iridocorneal abnormalities with glaucoma. 57
2729352 1989
41
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor. 25
29476696 2018
42
Mutation at cleavage site of insulin-like growth factor receptor in a short-stature child born with intrauterine growth retardation. 25
15928254 2005
43
Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. 25
14985297 2004
44
IGF-I receptor mutations resulting in intrauterine and postnatal growth retardation. 25
14657428 2003
45
Natural variants of human p85 alpha phosphoinositide 3-kinase in severe insulin resistance: a novel variant with impaired insulin-stimulated lipid kinase activity. 25
10768093 2000
46
Malformation syndromes. A selected miscellany. 25
819054 1975
47
A novel PIK3R1 mutation of SHORT syndrome: a case report with a 6-month follow-up. 61
33742773 2021
48
[A case of PIK3R1 gene variation induced SHORT syndrome]. 61
33657699 2021
49
Insulin resistance and exaggerated insulin sensitivity triggered by single-gene mutations in the insulin signaling pathway. 61
33479580 2021
50
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review. 61
32879144 2021

Variations for Short Syndrome

ClinVar genetic disease variations for Short Syndrome:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PIK3R1 NM_181523.3(PIK3R1):c.1906_1907insC (p.Asn636fs) Insertion Pathogenic 60765 rs398122385 GRCh37: 5:67592090-67592091
GRCh38: 5:68296262-68296263
2 PIK3R1 NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs) Duplication Pathogenic 571336 rs1561299903 GRCh37: 5:67591115-67591116
GRCh38: 5:68295287-68295288
3 PIK3R1 NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) SNV Pathogenic 376258 rs1057519838 GRCh37: 5:67589618-67589618
GRCh38: 5:68293790-68293790
4 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>C SNV Pathogenic 156009 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
5 PIK3R1 NM_181523.3(PIK3R1):c.965del (p.Met322fs) Deletion Pathogenic 648899 rs1580260232 GRCh37: 5:67588135-67588135
GRCh38: 5:68292307-68292307
6 PIK3R1 NM_181523.3(PIK3R1):c.1404_1425+4del Deletion Pathogenic 935112 GRCh37: 5:67589638-67589663
GRCh38: 5:68293810-68293835
7 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>T SNV Pathogenic 156008 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
8 PIK3R1 NM_181523.3(PIK3R1):c.1612_1614ATT[1] (p.Ile539del) Microsatellite Pathogenic 60761 rs397514046 GRCh37: 5:67591019-67591021
GRCh38: 5:68295191-68295193
9 PIK3R1 NM_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys) SNV Pathogenic 60762 rs397514047 GRCh37: 5:67590403-67590403
GRCh38: 5:68294575-68294575
10 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
11 PIK3R1 NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs) Duplication Pathogenic 60764 rs398122384 GRCh37: 5:67592126-67592127
GRCh38: 5:68296298-68296299
12 PIK3R1 NM_181523.3(PIK3R1):c.1906_1907del (p.Asn636fs) Deletion Pathogenic 126460 rs515726150 GRCh37: 5:67592088-67592089
GRCh38: 5:68296260-68296261
13 PIK3R1 NM_181523.3(PIK3R1):c.1971T>G (p.Tyr657Ter) SNV Pathogenic 126461 rs515726151 GRCh37: 5:67592155-67592155
GRCh38: 5:68296327-68296327
14 PIK3R1 NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln) SNV Pathogenic 126459 rs515726149 GRCh37: 5:67592076-67592076
GRCh38: 5:68296248-68296248
15 PIK3R1 NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) SNV Pathogenic 60763 rs397515453 GRCh37: 5:67592129-67592129
GRCh38: 5:68296301-68296301
16 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
17 PIK3R1 NM_181523.3(PIK3R1):c.1425+1G>A SNV Pathogenic/Likely pathogenic 372467 rs587777709 GRCh37: 5:67589663-67589663
GRCh38: 5:68293835-68293835
18 PIK3R1 NM_181523.3(PIK3R1):c.1300-2A>G SNV Likely pathogenic 827732 rs1403833564 GRCh37: 5:67589535-67589535
GRCh38: 5:68293707-68293707
19 PIK3R1 NM_181523.3(PIK3R1):c.1609_1623del (p.Glu537_Ser541del) Deletion Likely pathogenic 976243 GRCh37: 5:67591012-67591026
GRCh38: 5:68295184-68295198
20 PIK3R1 NM_181523.3(PIK3R1):c.502+1G>C SNV Likely pathogenic 928571 GRCh37: 5:67569842-67569842
GRCh38: 5:68274014-68274014
21 PIK3R1 NM_181523.3(PIK3R1):c.1106C>T (p.Thr369Ile) SNV Likely pathogenic 159719 rs587784325 GRCh37: 5:67589015-67589015
GRCh38: 5:68293187-68293187
22 PIK3R1 NM_181523.3(PIK3R1):c.1460T>C (p.Phe487Ser) SNV Likely pathogenic 209182 rs797045063 GRCh37: 5:67590398-67590398
GRCh38: 5:68294570-68294570
23 PIK3R1 NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr) SNV Uncertain significance 463166 rs150689648 GRCh37: 5:67522568-67522568
GRCh38: 5:68226740-68226740
24 PIK3R1 NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn) SNV Uncertain significance 463164 rs755043940 GRCh37: 5:67522705-67522705
GRCh38: 5:68226877-68226877
25 PIK3R1 NM_181523.3(PIK3R1):c.1019+6G>C SNV Uncertain significance 532022 rs749016701 GRCh37: 5:67588195-67588195
GRCh38: 5:68292367-68292367
26 PIK3R1 NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu) SNV Uncertain significance 575186 rs758929943 GRCh37: 5:67575431-67575431
GRCh38: 5:68279603-68279603
27 PIK3R1 NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys) SNV Uncertain significance 576303 rs540361957 GRCh37: 5:67576370-67576370
GRCh38: 5:68280542-68280542
28 PIK3R1 NM_181523.3(PIK3R1):c.635-7C>G SNV Uncertain significance 578937 rs1561289181 GRCh37: 5:67576349-67576349
GRCh38: 5:68280521-68280521
29 PIK3R1 NM_181523.3(PIK3R1):c.911C>T (p.Ala304Val) SNV Uncertain significance 548511 rs1554049827 GRCh37: 5:67576829-67576829
GRCh38: 5:68281001-68281001
30 PIK3R1 NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn) SNV Uncertain significance 568563 rs771919405 GRCh37: 5:67575538-67575538
GRCh38: 5:68279710-68279710
31 PIK3R1 NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser) SNV Uncertain significance 661141 rs1580173662 GRCh37: 5:67522673-67522673
GRCh38: 5:68226845-68226845
32 PIK3R1 NM_181523.3(PIK3R1):c.514G>A (p.Val172Met) SNV Uncertain significance 835242 GRCh37: 5:67575441-67575441
GRCh38: 5:68279613-68279613
33 PIK3R1 NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg) SNV Uncertain significance 846266 GRCh37: 5:67522754-67522754
GRCh38: 5:68226926-68226926
34 PIK3R1 NM_181523.3(PIK3R1):c.348G>A (p.Pro116=) SNV Uncertain significance 851179 GRCh37: 5:67569231-67569231
GRCh38: 5:68273403-68273403
35 PIK3R1 NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg) SNV Uncertain significance 853571 GRCh37: 5:67522835-67522835
GRCh38: 5:68227007-68227007
36 PIK3R1 NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu) SNV Uncertain significance 855460 GRCh37: 5:67569230-67569230
GRCh38: 5:68273402-68273402
37 PIK3R1 NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val) SNV Uncertain significance 856837 GRCh37: 5:67576397-67576397
GRCh38: 5:68280569-68280569
38 PIK3R1 NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp) SNV Uncertain significance 859537 GRCh37: 5:67590400-67590400
GRCh38: 5:68294572-68294572
39 PIK3R1 NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn) SNV Uncertain significance 863370 GRCh37: 5:67576468-67576468
GRCh38: 5:68280640-68280640
40 PIK3R1 NM_181523.3(PIK3R1):c.917-1513G>T SNV Uncertain significance 625995 rs144312303 GRCh37: 5:67586574-67586574
GRCh38: 5:68290746-68290746
41 PIK3R1 NM_181523.3(PIK3R1):c.427+4A>C SNV Uncertain significance 642350 rs1380740486 GRCh37: 5:67569314-67569314
GRCh38: 5:68273486-68273486
42 PIK3R1 NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val) SNV Uncertain significance 645272 rs1264292969 GRCh37: 5:67575481-67575481
GRCh38: 5:68279653-68279653
43 PIK3R1 NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met) SNV Uncertain significance 649231 rs141981005 GRCh37: 5:67576437-67576437
GRCh38: 5:68280609-68280609
44 PIK3R1 NM_181523.3(PIK3R1):c.1300-10A>T SNV Uncertain significance 849969 GRCh37: 5:67589527-67589527
GRCh38: 5:68293699-68293699
45 PIK3R1 NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu) SNV Uncertain significance 855725 GRCh37: 5:67576407-67576407
GRCh38: 5:68280579-68280579
46 PIK3R1 NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu) SNV Uncertain significance 857677 GRCh37: 5:67569824-67569824
GRCh38: 5:68273996-68273996
47 PIK3R1 NM_181523.3(PIK3R1):c.334+4_334+9del Deletion Uncertain significance 961973 GRCh37: 5:67522841-67522846
GRCh38: 5:68227013-68227018
48 PIK3R1 NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys) SNV Uncertain significance 943204 GRCh37: 5:67575489-67575489
GRCh38: 5:68279661-68279661
49 PIK3R1 NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys) SNV Uncertain significance 946102 GRCh37: 5:67576807-67576807
GRCh38: 5:68280979-68280979
50 PIK3R1 NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs) Microsatellite Uncertain significance 950410 GRCh37: 5:67593262-67593263
GRCh38: 5:68297434-68297435

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

72
# 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 KEGG:

36
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151

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

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 TNF PRKCE PIK3R1 IGF1R ESR1 ERBB2
2
Show member pathways
12.92 TP53 TNF PIK3R1 INS IGF1R ERBB2
3 12.74 TP53 PIK3R1 IGF1R ESR1 ERBB2 BMP4
4 12.71 TP53 TNF INS IGF1R ERBB2
5
Show member pathways
12.67 TP53 PIK3R1 MAPKAP1 INS ERBB2
6
Show member pathways
12.66 TP53 PRKCE PIK3R1 ESR1 ERBB2
7
Show member pathways
12.61 TP53 PIK3R1 IGF1R ESR1 ERBB2
8
Show member pathways
12.55 TP53 PIK3R1 PGR IGF1R ESR1 ERBB2
9 12.36 TP53 TNF PRKCE PIK3R1
10
Show member pathways
12.36 PRKCE PIK3R1 IGF1R ERBB2 BMP4
11
Show member pathways
12.32 PIK3R1 PGR INS IGF1R
12
Show member pathways
12.31 TP53 PRKCE PIK3R1 IGF1R ERBB2
13
Show member pathways
12.26 PIK3R1 IGF1R ESR1 ERBB2
14 12.21 TP53 PIK3R1 INS IGF1R
15
Show member pathways
12.18 TP53 TNF PRKCE IGF1R BMP4
16
Show member pathways
12.05 TP53 TNF SOD1 INS CRP
17 12.01 TP53 TNF PIK3R1 BMP4
18
Show member pathways
12 TP53 PRKCE PIK3R1 INS
19
Show member pathways
11.97 TP53 PIK3R1 IGF1R ERBB2 BMP4
20 11.93 TP53 PIK3R1 ESR1 BMP4
21 11.9 TP53 TNF PRKCE PIK3R1
22
Show member pathways
11.85 TNF PRKCE PIK3R1 INS
23 11.82 PIK3R1 INS IGF1R ERBB2
24
Show member pathways
11.79 PIK3R1 PGR ESR1 ERBB2
25 11.74 TP53 TNF PIK3R1 IGF1R ESR1 ERBB2
26
Show member pathways
11.73 TP53 SOD1 PIK3R1 INS IGF1R
27 11.69 TP53 PIK3R1 ERBB2
28 11.69 TP53 PIK3R1 ERBB2
29 11.66 TP53 PIK3R1 ERBB2
30
Show member pathways
11.65 TNF PRKCE PIK3R1 INS
31
Show member pathways
11.64 TP53 TNF PIK3R1 MAPKAP1 INS IGF1R
32
Show member pathways
11.44 SOD1 INS ESR1
33 11.42 PRKCE IGF1R ERBB2
34 11.31 TP53 TNF SOD1
35 11.02 PIK3R1 IGF1R ESR1

GO Terms for Short Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.19 PRKCE PIK3R1 PGR INS IGF1R ICOSLG
2 negative regulation of apoptotic process GO:0043066 9.88 TP53 SOD1 PIK3R1 IGF1R CRYAA BMP4
3 negative regulation of gene expression GO:0010629 9.83 TP53 TNF PGR ESR1 BMP4
4 positive regulation of gene expression GO:0010628 9.8 TP53 TNF INS ERBB2 CRP BMP4
5 positive regulation of protein localization to plasma membrane GO:1903078 9.73 TNF PRKCE PIK3R1
6 positive regulation of cytokine production GO:0001819 9.72 TNF SOD1 INS
7 positive regulation of MAPK cascade GO:0043410 9.67 PRKCE INS IGF1R ERBB2
8 positive regulation of pri-miRNA transcription by RNA polymerase II GO:1902895 9.65 TP53 TNF BMP4
9 phosphatidylinositol 3-kinase signaling GO:0014065 9.63 PIK3R1 IGF1R ERBB2
10 positive regulation of RNA polymerase II transcriptional preinitiation complex assembly GO:0045899 9.59 TP53 ESR1
11 intracellular steroid hormone receptor signaling pathway GO:0030518 9.58 PGR ESR1
12 response to salt stress GO:0009651 9.58 TP53 TNF
13 negative regulation of lipid storage GO:0010888 9.57 TNF CRP
14 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.52 ESR1 BMP4
15 positive regulation of protein complex disassembly GO:0043243 9.51 TNF IGF1R
16 negative regulation of immature T cell proliferation in thymus GO:0033088 9.49 ERBB2 BMP4
17 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.46 TNF PIK3R1 INS IGF1R
18 steroid hormone mediated signaling pathway GO:0043401 9.43 PGR ESR1 BMP4
19 positive regulation of protein kinase B signaling GO:0051897 9.17 TNF PIK3R1 INS IGF1R ESR1 ERBB2
20 negative regulation of production of miRNAs involved in gene silencing by miRNA GO:1903799 9.13 TP53 TNF ESR1

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.72 TP53 SOD1 PRKCE PGR ESR1
2 insulin receptor substrate binding GO:0043560 9.37 PIK3R1 IGF1R
3 identical protein binding GO:0042802 9.36 TP53 TNF SOD1 PGR INS IGF1R
4 insulin binding GO:0043559 9.26 PIK3R1 IGF1R
5 ErbB-3 class receptor binding GO:0043125 9.16 PIK3R1 ERBB2
6 insulin receptor binding GO:0005158 9.13 PIK3R1 INS IGF1R

Sources for Short Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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