SHORTS
MCID: SHR029
MIFTS: 59

Short Syndrome (SHORTS)

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

Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 57 76 24 53 25 59 75 37 29 6 40 73
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 57 25
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 53 75
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 57 25
Partial Lipodystrophy with Rieger Anomaly and Short Stature 53 75
Aarskog-Ose-Pande Syndrome 53 59
Pik3r1-Associated Syndromic Insulin Resistance with Lipoatrophy 24
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 25
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome 59
Rieger Anomaly-Partial Lipodystrophy Syndrome 59
Growth Retardation-Rieger Anomaly 25
Shorts 75

Characteristics:

Orphanet epidemiological data:

59
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
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


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 pik3r1 pathogenic variant, and all familial cases have inherited the pathogenic variant from an affected parent...

Classifications:



Summaries for Short Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to insulin-like growth factor i and glioblastoma multiforme. 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 Activation of cAMP-Dependent PKA. Affiliated tissues include eye, skin and bone, and related phenotypes are malar flattening and hypertelorism

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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 3381)
# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 31.6 IGF1R PIK3R1
2 glioblastoma multiforme 29.2 IGF1R PIK3R1
3 short-rib thoracic dysplasia 3 with or without polydactyly 12.5
4 short-rib thoracic dysplasia 6 with or without polydactyly 12.4
5 short-rib thoracic dysplasia 12 12.4
6 short-rib thoracic dysplasia 10 with or without polydactyly 12.4
7 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.3
8 short-rib thoracic dysplasia 7 with or without polydactyly 12.3
9 acyl-coa dehydrogenase, short-chain, deficiency of 12.3
10 short bowel syndrome 12.3
11 short-rib thoracic dysplasia 4 with or without polydactyly 12.3
12 short-rib thoracic dysplasia 5 with or without polydactyly 12.3
13 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 12.3
14 facial dysmorphism, immunodeficiency, livedo, and short stature 12.3
15 short-rib thoracic dysplasia 8 with or without polydactyly 12.3
16 short-rib thoracic dysplasia 2 with or without polydactyly 12.3
17 short qt syndrome 12.3
18 spondylometaepiphyseal dysplasia, short limb-hand type 12.2
19 short-rib thoracic dysplasia 11 with or without polydactyly 12.2
20 short stature with nonspecific skeletal abnormalities 12.2
21 short stature, idiopathic, x-linked 12.2
22 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.2
23 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12.2
24 short qt syndrome 2 12.2
25 short qt syndrome 3 12.2
26 short stature, optic nerve atrophy, and pelger-huet anomaly 12.2
27 short-rib thoracic dysplasia 13 with or without polydactyly 12.2
28 short qt syndrome 1 12.2
29 short-rib thoracic dysplasia 1 with or without polydactyly 12.2
30 short sleeper 12.1
31 short stature, developmental delay, and congenital heart defects 12.1
32 progeroid short stature with pigmented nevi 12.1
33 short stature syndrome, brussels type 12.1
34 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 12.1
35 short-rib thoracic dysplasia 9 with or without polydactyly 12.1
36 short-rib thoracic dysplasia 14 with polydactyly 12.1
37 short-rib thoracic dysplasia 19 with or without polydactyly 12.1
38 dental anomalies and short stature 12.1
39 short-rib thoracic dysplasia 15 with polydactyly 12.1
40 ectodermal dysplasia/short stature syndrome 12.1
41 retinal dystrophy, juvenile cataracts, and short stature syndrome 12.1
42 short-rib thoracic dysplasia 16 with or without polydactyly 12.1
43 short-rib thoracic dysplasia 17 with or without polydactyly 12.1
44 short-rib thoracic dysplasia 18 with polydactyly 12.1
45 microcephaly, short stature, and impaired glucose metabolism 1 12.1
46 short-limb skeletal dysplasia with severe combined immunodeficiency 12.1
47 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 12.1
48 developmental delay with short stature, dysmorphic features, and sparse hair 12.0
49 short-rib thoracic dysplasia 20 with polydactyly 12.0
50 short stature, microcephaly, and endocrine dysfunction 12.0

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:

57
Skeletal Hands:
clinodactyly

Head And Neck Nose:
wide nasal bridge
hypoplastic nasal alae

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

Growth Other:
intrauterine growth retardation

Skeletal:
joint laxity
delayed bone age

Laboratory Abnormalities:
hyperglycemia

Head And Neck Ears:
large ears
hearing loss, sensorineural

Skeletal Limbs:
large epiphyses
gracile diaphyses

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

Genitourinary External Genitalia Male:
inguinal hernia

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

Head And Neck Eyes:
megalocornea
myopia
telecanthus
glaucoma
rieger anomaly
more
Endocrine Features:
glucose intolerance
insulin resistant diabetes

Head And Neck Teeth:
hypodontia
malocclusion
delayed dental eruption

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

Human phenotypes related to Short Syndrome:

59 32 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 occasional (7.5%) Occasional (29-5%) HP:0000272
2 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
3 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
4 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
5 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
6 prominent supraorbital ridges 59 32 occasional (7.5%) Occasional (29-5%) HP:0000336
7 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
8 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
9 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
10 prominent forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0011220
11 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
12 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
13 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
14 megalocornea 59 32 frequent (33%) Frequent (79-30%) HP:0000485
15 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
16 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
17 lipodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009125
18 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
19 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
20 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
21 hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0007676
22 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
23 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
24 posterior embryotoxon 59 32 occasional (7.5%) Occasional (29-5%) HP:0000627
25 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
26 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
27 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
28 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
29 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
30 abnormality of the mandible 59 32 occasional (7.5%) Occasional (29-5%) HP:0000277
31 excessive wrinkled skin 59 32 frequent (33%) Frequent (79-30%) HP:0007392
32 poor appetite 59 32 frequent (33%) Frequent (79-30%) HP:0004396
33 frontal bossing 32 HP:0002007
34 clinodactyly 32 HP:0030084
35 macrotia 32 HP:0000400
36 cataract 32 HP:0000518
37 dental malocclusion 32 HP:0000689
38 delayed skeletal maturation 32 HP:0002750
39 abnormality of the dentition 59 Frequent (79-30%)
40 delayed speech and language development 32 HP:0000750
41 lipoatrophy 32 HP:0100578
42 micrognathia 32 HP:0000347
43 delayed eruption of teeth 32 HP:0000684
44 thin skin 32 HP:0000963
45 intrauterine growth retardation 32 HP:0001511
46 glucose intolerance 32 HP:0000833
47 myopia 32 HP:0000545
48 joint laxity 32 HP:0001388
49 underdeveloped nasal alae 32 HP:0000430
50 abnormality of the face 59 Frequent (79-30%)

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

26 (show all 13)
# 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:

46
# 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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The LD Lync Study - Natural History Study of Genetic Lipodystrophy Syndromes Recruiting NCT03087253

Search NIH Clinical Center for 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:

41
Eye, Skin, Bone, Testes, Liver, Heart, T Cells

Publications for Short Syndrome

Articles related to Short Syndrome:

(show all 27)
# Title Authors Year
1
SHORT syndrome in a two-year-old girl - case report. ( 28472977 )
2017
2
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase CE9) impairing TORC2-dependent AKT activation. ( 28934384 )
2017
3
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. ( 28302518 )
2017
4
EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION. ( 30226966 )
2016
5
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. ( 26497935 )
2015
6
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. ( 26252249 )
2015
7
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. ( 24886349 )
2014
8
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
9
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. ( 24033310 )
2013
10
Mutations in PIK3R1 cause SHORT syndrome. ( 23810382 )
2013
11
Short syndrome-an expanding phenotype. ( 23665600 )
2013
12
PIK3R1 mutations in SHORT syndrome. ( 23980586 )
2013
13
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
14
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. ( 18384141 )
2008
15
Is SHORT syndrome another phenotypic variation of PITX2? ( 15481036 )
2004
16
SHORT syndrome. ( 12514365 )
2003
17
SHORT syndrome: a case with high hyperopia and astigmatism. ( 11135494 )
2000
18
Case report on SHORT syndrome. ( 10457859 )
1999
19
SHORT syndrome: distinctive radiographic features. ( 9571279 )
1998
20
SHORT syndrome: a new case with probable autosomal dominant inheritance. ( 8669449 )
1996
21
Rieger anomaly and congenital glaucoma in the SHORT syndrome. ( 8790109 )
1996
22
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? ( 8574420 )
1995
23
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. ( 7949817 )
1994
24
SHORT Syndrome ( 24830046 )
1993
25
SHORT syndrome and insulin resistance. ( 8279490 )
1993
26
The SHORT syndrome: further delineation and natural history. ( 2664179 )
1989
27
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:

75
# 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 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.1615_1617delATT (p.Ile539del) deletion Uncertain significance rs397514046 GRCh37 Chromosome 5, 67591022: 67591024
2 PIK3R1 NM_181523.2(PIK3R1): c.1615_1617delATT (p.Ile539del) deletion Uncertain significance rs397514046 GRCh38 Chromosome 5, 68295194: 68295196
3 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh37 Chromosome 5, 67590403: 67590403
4 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh38 Chromosome 5, 68294575: 68294575
5 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
6 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh38 Chromosome 5, 68296301: 68296301
7 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh37 Chromosome 5, 67592127: 67592127
8 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh38 Chromosome 5, 68296299: 68296299
9 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh37 Chromosome 5, 67592090: 67592091
10 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh38 Chromosome 5, 68296262: 68296263
11 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh37 Chromosome 5, 67592155: 67592155
12 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh37 Chromosome 5, 67592076: 67592076
13 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh38 Chromosome 5, 68296248: 68296248
14 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh38 Chromosome 5, 68296262: 68296263
15 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh37 Chromosome 5, 67592090: 67592091
16 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh38 Chromosome 5, 68296327: 68296327
17 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh37 Chromosome 5, 67575548: 67575548
18 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh38 Chromosome 5, 68279720: 68279720
19 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh37 Chromosome 5, 67589015: 67589015
20 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh38 Chromosome 5, 68293187: 68293187
21 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh37 Chromosome 5, 67589188: 67589188
22 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh38 Chromosome 5, 68293360: 68293360
23 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh37 Chromosome 5, 67593363: 67593363
24 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh38 Chromosome 5, 68297535: 68297535
25 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh37 Chromosome 5, 67590398: 67590398
26 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh38 Chromosome 5, 68294570: 68294570
27 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> A single nucleotide variant Pathogenic rs587777709 GRCh37 Chromosome 5, 67589663: 67589663
28 PIK3R1 NM_181523.2(PIK3R1): c.1425+1G> A single nucleotide variant Pathogenic rs587777709 GRCh38 Chromosome 5, 68293835: 68293835
29 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh37 Chromosome 5, 67575569: 67575569
30 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh38 Chromosome 5, 68279741: 68279741
31 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh37 Chromosome 5, 67576748: 67576748
32 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh38 Chromosome 5, 68280920: 68280920
33 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh37 Chromosome 5, 67575498: 67575498
34 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh38 Chromosome 5, 68279670: 68279670
35 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh37 Chromosome 5, 67588131: 67588131
36 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh38 Chromosome 5, 68292303: 68292303
37 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh37 Chromosome 5, 67522568: 67522568
38 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh38 Chromosome 5, 68226740: 68226740
39 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh37 Chromosome 5, 67522705: 67522705
40 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh38 Chromosome 5, 68226877: 68226877
41 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh37 Chromosome 5, 67576408: 67576408
42 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh38 Chromosome 5, 68280580: 68280580
43 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh38 Chromosome 5, 68226870: 68226870
44 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh37 Chromosome 5, 67522698: 67522698
45 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh37 Chromosome 5, 67589527: 67589527
46 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh38 Chromosome 5, 68293699: 68293699
47 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh38 Chromosome 5, 68292367: 68292367
48 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh37 Chromosome 5, 67588195: 67588195
49 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh38 Chromosome 5, 68293098: 68293098
50 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh37 Chromosome 5, 67588926: 67588926

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:

37
# Name Kegg Source Accession
1 PI3K-Akt signaling pathway hsa04151

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

(show all 38)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 BMP4 IGF1R PIK3R1
2
Show member pathways
13.08 BMP4 IGF1R PIK3R1
3
Show member pathways
12.96 BMP4 IGF1R PIK3R1
4
Show member pathways
12.86 BMP4 IGF1R PIK3R1
5
Show member pathways
12.83 BMP4 IGF1R PIK3R1
6
Show member pathways
12.78 BMP4 IGF1R PIK3R1
7
Show member pathways
12.55 BMP4 IGF1R PIK3R1
8
Show member pathways
12.52 BMP4 IGF1R PIK3R1
9 12.22 BMP4 IGF1R PIK3R1
10
Show member pathways
12.12 BMP4 PIK3R1
11
Show member pathways
12.08 IGF1R PIK3R1
12
Show member pathways
12.07 IGF1R PIK3R1
13
Show member pathways
12.03 IGF1R PIK3R1
14
Show member pathways
11.99 IGF1R PIK3R1
15
Show member pathways
11.97 IGF1R PIK3R1
16 11.94 IGF1R PIK3R1
17
Show member pathways
11.85 IGF1R PIK3R1
18
Show member pathways
11.82 IGF1R PIK3R1
19
Show member pathways
11.82 IGF1R PIK3R1
20 11.78 IGF1R PIK3R1
21
Show member pathways
11.78 IGF1R PIK3R1
22
Show member pathways
11.77 IGF1R PIK3R1
23
Show member pathways
11.76 IGF1R PIK3R1
24
Show member pathways
11.73 BMP4 IGF1R PIK3R1
25 11.72 BMP4 PIK3R1
26
Show member pathways
11.71 IGF1R PIK3R1
27 11.65 IGF1R PIK3R1
28 11.59 BMP4 PIK3R1
29 11.56 IGF1R PIK3R1
30 11.49 IGF1R PIK3R1
31 11.48 IGF1R PIK3R1
32 11.27 IGF1R PIK3R1
33 11.05 IGF1R PIK3R1
34 11.03 IGF1R PIK3R1
35 10.94 BMP4 IGF1R PIK3R1
36 10.6 IGF1R PIK3R1
37 10.48 BMP4 IGF1R PIK3R1
38 10.37 IGF1R PIK3R1

GO Terms for Short Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.5 BMP4 IGF1R PIK3R1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.43 BMP4 IGF1R
3 positive regulation of protein phosphorylation GO:0001934 9.4 BMP4 IGF1R
4 insulin receptor signaling pathway GO:0008286 9.37 IGF1R PIK3R1
5 phosphatidylinositol-mediated signaling GO:0048015 9.26 IGF1R PIK3R1
6 phosphatidylinositol 3-kinase signaling GO:0014065 9.16 IGF1R PIK3R1
7 insulin-like growth factor receptor signaling pathway GO:0048009 8.96 IGF1R PIK3R1
8 positive regulation of cell migration GO:0030335 8.8 BMP4 IGF1R PIK3R1

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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