MCID: SHR029
MIFTS: 51

Short Syndrome

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

Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 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 short-rib thoracic dysplasia 3 with or without polydactyly and short-rib thoracic dysplasia 6 with or without polydactyly. 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 all 27)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 3 with or without polydactyly 12.3
2 short-rib thoracic dysplasia 6 with or without polydactyly 12.3
3 short-rib thoracic dysplasia 12 12.2
4 short-rib thoracic dysplasia 10 with or without polydactyly 12.2
5 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.2
6 acyl-coa dehydrogenase, short-chain, deficiency of 12.2
7 spondylometaepiphyseal dysplasia, short limb-hand type 12.1
8 short-rib thoracic dysplasia 7 with or without polydactyly 12.1
9 short bowel syndrome 12.1
10 short-rib thoracic dysplasia 4 with or without polydactyly 12.1
11 short-rib thoracic dysplasia 5 with or without polydactyly 12.1
12 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 12.1
13 short-rib thoracic dysplasia 2 with or without polydactyly 12.1
14 short-rib thoracic dysplasia 8 with or without polydactyly 12.1
15 short qt syndrome 12.1
16 facial dysmorphism, immunodeficiency, livedo, and short stature 12.1
17 short-rib thoracic dysplasia 1 with or without polydactyly 12.1
18 short-rib thoracic dysplasia 11 with or without polydactyly 12.1
19 weill-marchesani syndrome 2 10.8
20 congenital short bowel syndrome 10.6
21 insulin-like growth factor i 9.5 IGF1R PIK3R1
22 diabetes mellitus, noninsulin-dependent 9.5
23 glaucoma 3, primary congenital, a 9.3
24 astigmatism 9.3
25 partial lipodystrophy 9.3
26 nephrocalcinosis 9.3
27 glioblastoma multiforme 9.2 IGF1R PIK3R1

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 telecanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000506
18 deeply set eye 59 32 hallmark (90%) Very frequent (99-80%) HP:0000490
19 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
20 hypoplasia of the iris 59 32 hallmark (90%) Very frequent (99-80%) HP:0007676
21 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
22 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
23 posterior embryotoxon 59 32 occasional (7.5%) Occasional (29-5%) HP:0000627
24 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
25 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
26 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
27 triangular face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000325
28 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
29 lipodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009125
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 underdeveloped nasal alae 32 HP:0000430
49 abnormality of the face 59 Frequent (79-30%)
50 abnormality of the immune system 32 HP:0002715

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 IGF1R PIK3R1 BMP4
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

Publications for Short Syndrome

Articles related to Short Syndrome:

(show all 26)
# 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
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. ( 26497935 )
2015
5
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. ( 26252249 )
2015
6
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. ( 24886349 )
2014
7
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
8
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. ( 24033310 )
2013
9
Mutations in PIK3R1 cause SHORT syndrome. ( 23810382 )
2013
10
Short syndrome-an expanding phenotype. ( 23665600 )
2013
11
PIK3R1 mutations in SHORT syndrome. ( 23980586 )
2013
12
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
13
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. ( 18384141 )
2008
14
Is SHORT syndrome another phenotypic variation of PITX2? ( 15481036 )
2004
15
SHORT syndrome. ( 12514365 )
2003
16
SHORT syndrome: a case with high hyperopia and astigmatism. ( 11135494 )
2000
17
Case report on SHORT syndrome. ( 10457859 )
1999
18
SHORT syndrome: distinctive radiographic features. ( 9571279 )
1998
19
SHORT syndrome: a new case with probable autosomal dominant inheritance. ( 8669449 )
1996
20
Rieger anomaly and congenital glaucoma in the SHORT syndrome. ( 8790109 )
1996
21
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? ( 8574420 )
1995
22
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. ( 7949817 )
1994
23
SHORT Syndrome ( 24830046 )
1993
24
SHORT syndrome and insulin resistance. ( 8279490 )
1993
25
The SHORT syndrome: further delineation and natural history. ( 2664179 )
1989
26
Report of a case and further delineation of the SHORT syndrome. ( 4050863 )
1985

Variations for Short Syndrome

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

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 all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh37 Chromosome 5, 67590403: 67590403
2 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh38 Chromosome 5, 68294575: 68294575
3 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
4 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh38 Chromosome 5, 68296301: 68296301
5 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh37 Chromosome 5, 67592127: 67592127
6 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh38 Chromosome 5, 68296299: 68296299
7 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh37 Chromosome 5, 67592090: 67592091
8 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh38 Chromosome 5, 68296262: 68296263
9 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh37 Chromosome 5, 67592076: 67592076
10 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh38 Chromosome 5, 68296248: 68296248
11 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh38 Chromosome 5, 68296262: 68296263
12 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh37 Chromosome 5, 67592090: 67592091
13 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh37 Chromosome 5, 67592155: 67592155
14 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh38 Chromosome 5, 68296327: 68296327
15 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh37 Chromosome 5, 67575548: 67575548
16 PIK3R1 NM_181523.2(PIK3R1): c.621T> C (p.Ile207=) single nucleotide variant Benign/Likely benign rs61749601 GRCh38 Chromosome 5, 68279720: 68279720
17 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh37 Chromosome 5, 67589015: 67589015
18 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh38 Chromosome 5, 68293187: 68293187
19 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh37 Chromosome 5, 67589188: 67589188
20 PIK3R1 NM_181523.2(PIK3R1): c.1176C> T (p.Phe392=) single nucleotide variant Benign/Likely benign rs3730090 GRCh38 Chromosome 5, 68293360: 68293360
21 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh37 Chromosome 5, 67593363: 67593363
22 PIK3R1 NM_181523.2(PIK3R1): c.2109T> C (p.Leu703=) single nucleotide variant Benign/Likely benign rs3729981 GRCh38 Chromosome 5, 68297535: 68297535
23 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh37 Chromosome 5, 67590398: 67590398
24 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh38 Chromosome 5, 68294570: 68294570
25 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh37 Chromosome 5, 67575569: 67575569
26 PIK3R1 NM_181523.2(PIK3R1): c.634+8T> C single nucleotide variant Likely benign rs368138177 GRCh38 Chromosome 5, 68279741: 68279741
27 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh37 Chromosome 5, 67576748: 67576748
28 PIK3R1 NM_181523.2(PIK3R1): c.837-7C> T single nucleotide variant Benign rs571365105 GRCh38 Chromosome 5, 68280920: 68280920
29 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh37 Chromosome 5, 67575498: 67575498
30 PIK3R1 NM_181523.2(PIK3R1): c.571C> T (p.Leu191=) single nucleotide variant Benign rs533077843 GRCh38 Chromosome 5, 68279670: 68279670
31 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh37 Chromosome 5, 67588131: 67588131
32 PIK3R1 NM_181523.2(PIK3R1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs142439210 GRCh38 Chromosome 5, 68292303: 68292303
33 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh37 Chromosome 5, 67522568: 67522568
34 PIK3R1 NM_181523.2(PIK3R1): c.65T> C (p.Ile22Thr) single nucleotide variant Uncertain significance rs150689648 GRCh38 Chromosome 5, 68226740: 68226740
35 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh37 Chromosome 5, 67522705: 67522705
36 PIK3R1 NM_181523.2(PIK3R1): c.202G> A (p.Asp68Asn) single nucleotide variant Uncertain significance rs755043940 GRCh38 Chromosome 5, 68226877: 68226877
37 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh37 Chromosome 5, 67576408: 67576408
38 PIK3R1 NM_181523.2(PIK3R1): c.687G> A (p.Ser229=) single nucleotide variant Benign rs34175949 GRCh38 Chromosome 5, 68280580: 68280580
39 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh37 Chromosome 5, 67522698: 67522698
40 PIK3R1 NM_181523.2(PIK3R1): c.195A> G (p.Glu65=) single nucleotide variant Benign rs73768883 GRCh38 Chromosome 5, 68226870: 68226870
41 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh38 Chromosome 5, 68293699: 68293699
42 PIK3R1 NM_181523.2(PIK3R1): c.1300-10A> C single nucleotide variant Likely benign rs377666209 GRCh37 Chromosome 5, 67589527: 67589527
43 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh37 Chromosome 5, 67588195: 67588195
44 PIK3R1 NM_181523.2(PIK3R1): c.1019+6G> C single nucleotide variant Uncertain significance rs749016701 GRCh38 Chromosome 5, 68292367: 68292367
45 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh37 Chromosome 5, 67588926: 67588926
46 PIK3R1 NM_181523.2(PIK3R1): c.1020-3C> T single nucleotide variant Uncertain significance rs200653607 GRCh38 Chromosome 5, 68293098: 68293098
47 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh37 Chromosome 5, 67589633: 67589633
48 PIK3R1 NM_181523.2(PIK3R1): c.1396T> C (p.Leu466=) single nucleotide variant Likely benign rs754454562 GRCh38 Chromosome 5, 68293805: 68293805
49 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh37 Chromosome 5, 67589197: 67589197
50 PIK3R1 NM_181523.2(PIK3R1): c.1185A> G (p.Pro395=) single nucleotide variant Likely benign rs149905863 GRCh38 Chromosome 5, 68293369: 68293369

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 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 BMP4 IGF1R PIK3R1
2
Show member pathways
13.04 BMP4 IGF1R PIK3R1
3
Show member pathways
12.94 BMP4 IGF1R PIK3R1
4
Show member pathways
12.86 BMP4 IGF1R PIK3R1
5
Show member pathways
12.81 BMP4 IGF1R PIK3R1
6
Show member pathways
12.76 BMP4 IGF1R PIK3R1
7
Show member pathways
12.5 BMP4 IGF1R PIK3R1
8
Show member pathways
12.46 BMP4 IGF1R PIK3R1
9 12.15 BMP4 IGF1R PIK3R1
10
Show member pathways
12.11 BMP4 PIK3R1
11
Show member pathways
12.08 IGF1R PIK3R1
12
Show member pathways
12.07 IGF1R PIK3R1
13
Show member pathways
11.99 IGF1R PIK3R1
14
Show member pathways
11.96 IGF1R PIK3R1
15 11.94 IGF1R PIK3R1
16
Show member pathways
11.82 IGF1R PIK3R1
17
Show member pathways
11.81 IGF1R PIK3R1
18 11.8 IGF1R PIK3R1
19
Show member pathways
11.77 IGF1R PIK3R1
20
Show member pathways
11.77 IGF1R PIK3R1
21
Show member pathways
11.74 IGF1R PIK3R1
22 11.7 BMP4 PIK3R1
23
Show member pathways
11.69 IGF1R PIK3R1
24 11.63 IGF1R PIK3R1
25
Show member pathways
11.61 IGF1R PIK3R1
26 11.56 BMP4 PIK3R1
27 11.53 IGF1R PIK3R1
28 11.52 IGF1R PIK3R1
29 11.46 IGF1R PIK3R1
30 11.2 IGF1R PIK3R1
31 10.98 IGF1R PIK3R1
32 10.94 BMP4 IGF1R PIK3R1
33 10.6 IGF1R PIK3R1
34 10.37 IGF1R PIK3R1

GO Terms for Short Syndrome

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

# 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 9.4 BMP4 IGF1R
3 insulin receptor signaling pathway GO:0008286 9.37 IGF1R PIK3R1
4 phosphatidylinositol-mediated signaling GO:0048015 9.26 IGF1R PIK3R1
5 phosphatidylinositol 3-kinase signaling GO:0014065 9.16 IGF1R PIK3R1
6 insulin-like growth factor receptor signaling pathway GO:0048009 8.96 IGF1R PIK3R1
7 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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