MCID: SHR029
MIFTS: 54

Short Syndrome

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

Aliases & Classifications for Short Syndrome

MalaCards integrated aliases for Short Syndrome:

Name: Short Syndrome 53 72 23 49 24 55 71 36 28 69
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 53 24
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 49 71
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 53 24
Partial Lipodystrophy with Rieger Anomaly and Short Stature 49 71
Aarskog-Ose-Pande Syndrome 49 55
Pik3r1-Associated Syndromic Insulin Resistance with Lipoatrophy 23
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 24
Lipodystrophy-Rieger Anomaly-Diabetes Syndrome 55
Rieger Anomaly-Partial Lipodystrophy Syndrome 55
Growth Retardation-Rieger Anomaly 24
Shorts 71

Characteristics:

Orphanet epidemiological data:

55
short syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

53
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:

23
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 : 49 SHORT syndromeis a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual. Last updated: 3/7/2016

MalaCards based summary : Short Syndrome, also known as short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay, is related to short-rib thoracic dysplasia 3 with or without polydactyly and short-rib thoracic dysplasia 6 with or without polydactyly, and has symptoms including malar flattening, hypertelorism and diabetes mellitus. 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 Akt Signaling. Affiliated tissues include eye, skin and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 '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 : 71 SHORT syndrome: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal.

Genetics Home Reference : 24 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.

Wikipedia : 72 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...

GeneReviews: NBK201365

Related Diseases for Short Syndrome

Diseases in the Short Syndrome family:

Short Qt Syndrome 1 Short Qt Syndrome 2
Short Qt Syndrome 3 Short Qt Syndrome
Familial Short Qt Syndrome

Diseases related to Short Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# 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 12.2
3 short-rib thoracic dysplasia 12 12.2
4 short-rib thoracic dysplasia 10 with or without polydactyly 12.2
5 acyl-coa dehydrogenase, short-chain, deficiency of 12.2
6 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.2
7 spondylometaepiphyseal dysplasia, short limb-hand type 12.1
8 short bowel syndrome 12.1
9 short-rib thoracic dysplasia 4 with or without polydactyly 12.1
10 short-rib thoracic dysplasia 5 with or without polydactyly 12.1
11 short-rib thoracic dysplasia 7 with or without polydactyly 12.1
12 short-rib thoracic dysplasia 2 with or without polydactyly 12.1
13 short-rib thoracic dysplasia 8 with or without polydactyly 12.1
14 short stature, idiopathic, x-linked 12.1
15 short qt syndrome 12.1
16 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 12.1
17 facial dysmorphism, immunodeficiency, livedo, and short stature 12.1
18 congenital short bowel syndrome 12.1
19 short-rib thoracic dysplasia 1 with or without polydactyly 12.1
20 short-rib thoracic dysplasia 11 with or without polydactyly 12.0
21 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 12.0
22 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 12.0
23 short qt syndrome 2 12.0
24 short qt syndrome 3 12.0
25 short stature, optic nerve atrophy, and pelger-huet anomaly 12.0
26 short-rib thoracic dysplasia 13 with or without polydactyly 12.0
27 short qt syndrome 1 12.0
28 short stature syndrome, brussels type 12.0
29 short sleeper 12.0
30 short stature, developmental delay, and congenital heart defects 12.0
31 short-rib thoracic dysplasia 9 with or without polydactyly 12.0
32 short stature with nonspecific skeletal abnormalities 12.0
33 short-rib thoracic dysplasia 14 with polydactyly 11.9
34 multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects 11.9
35 short-rib thoracic dysplasia 15 with polydactyly 11.9
36 short-rib thoracic dysplasia 16 with or without polydactyly 11.9
37 short-rib thoracic dysplasia 17 with or without polydactyly 11.9
38 ectodermal dysplasia/short stature syndrome 11.9
39 microcephaly, short stature, and impaired glucose metabolism 1 11.9
40 retinal dystrophy, juvenile cataracts, and short stature syndrome 11.9
41 congenital short femur 11.9
42 costocoracoid ligament, congenitally short 11.9
43 developmental delay with short stature, dysmorphic features, and sparse hair 11.9
44 dental anomalies and short stature 11.9
45 progeroid short stature with pigmented nevi 11.9
46 short stature, brachydactyly, intellectual developmental disability, and seizures 11.9
47 blepharophimosis with ptosis, syndactyly, and short stature 11.9
48 psychosocial short stature 11.9
49 short stature, microcephaly, and endocrine dysfunction 11.9
50 microcephaly, short stature, and limb abnormalities 11.9

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:

53
Skeletal:
joint laxity
delayed bone age

GenitourinaryExternalGenitaliaMale:
inguinal hernia

GrowthHeight:
short stature
birth length less than 3rd percentile

HeadAndNeckEyes:
megalocornea
myopia
telecanthus
glaucoma
rieger anomaly
more
EndocrineFeatures:
glucose intolerance
insulin resistant diabetes

LaboratoryAbnormalities:
hyperglycemia

HeadAndNeckEars:
large ears
hearing loss, sensorineural

SkeletalLimbs:
large epiphyses
gracile diaphyses

SkinNailsHairSkin:
thin, wrinkled skin
dimples (chin, buttocks)

SkeletalHands:
clinodactyly

HeadAndNeckNose:
wide nasal bridge
hypoplastic nasal alae

HeadAndNeckFace:
prominent forehead
micrognathia
triangular face
chin dimple
midface hypoplasia

GrowthOther:
intrauterine growth retardation

HeadAndNeckTeeth:
hypodontia
malocclusion
delayed dental eruption

NeurologicCentralNervousSystem:
normal intelligence
speech delay

HeadAndNeckMouth:
downturned corners of the mouth

GrowthWeight:
birth weight less than 3rd percentile

MuscleSoftTissue:
lipoatrophy (lower face, upper limb, buttock)


Clinical features from OMIM:

269880

Human phenotypes related to Short Syndrome:

55 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 occasional (7.5%) Occasional (29-5%) HP:0000272
2 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
3 diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0000819
4 neurological speech impairment 55 31 frequent (33%) Frequent (79-30%) HP:0002167
5 inguinal hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000023
6 prominent supraorbital ridges 55 31 occasional (7.5%) Occasional (29-5%) HP:0000336
7 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
8 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
9 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
10 prominent forehead 55 31 occasional (7.5%) Occasional (29-5%) HP:0011220
11 weight loss 55 31 frequent (33%) Frequent (79-30%) HP:0001824
12 short palm 55 31 occasional (7.5%) Occasional (29-5%) HP:0004279
13 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
14 megalocornea 55 31 frequent (33%) Frequent (79-30%) HP:0000485
15 microdontia 55 31 frequent (33%) Frequent (79-30%) HP:0000691
16 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
17 telecanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000506
18 deeply set eye 55 31 hallmark (90%) Very frequent (99-80%) HP:0000490
19 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
20 hypoplasia of the iris 55 31 hallmark (90%) Very frequent (99-80%) HP:0007676
21 hypotrichosis 55 31 frequent (33%) Frequent (79-30%) HP:0001006
22 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
23 posterior embryotoxon 55 31 occasional (7.5%) Occasional (29-5%) HP:0000627
24 abnormality of dental enamel 55 31 frequent (33%) Frequent (79-30%) HP:0000682
25 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
26 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
27 triangular face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000325
28 insulin resistance 55 31 frequent (33%) Frequent (79-30%) HP:0000855
29 lipodystrophy 55 31 frequent (33%) Frequent (79-30%) HP:0009125
30 abnormality of the mandible 55 31 occasional (7.5%) Occasional (29-5%) HP:0000277
31 excessive wrinkled skin 55 31 frequent (33%) Frequent (79-30%) HP:0007392
32 poor appetite 55 31 frequent (33%) Frequent (79-30%) HP:0004396
33 joint laxity 31 HP:0001388
34 frontal bossing 31 HP:0002007
35 clinodactyly 31 HP:0030084
36 macrotia 31 HP:0000400
37 cataract 31 HP:0000518
38 dental malocclusion 31 HP:0000689
39 delayed skeletal maturation 31 HP:0002750
40 abnormality of the dentition 55 Frequent (79-30%)
41 delayed speech and language development 31 HP:0000750
42 lipoatrophy 31 HP:0100578
43 micrognathia 31 HP:0000347
44 delayed eruption of teeth 31 HP:0000684
45 thin skin 31 HP:0000963
46 intrauterine growth retardation 31 HP:0001511
47 glucose intolerance 31 HP:0000833
48 myopia 31 HP:0000545
49 underdeveloped nasal alae 31 HP:0000430
50 abnormality of the face 55 Frequent (79-30%)

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 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:

43
# 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 Not yet 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 28 PIK3R1

Anatomical Context for Short Syndrome

MalaCards organs/tissues related to Short Syndrome:

38
Eye, Skin, Bone, Testes

Publications for Short Syndrome

Articles related to Short Syndrome:

(show all 26)
# Title Authors Year
1
SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase CE9) impairing TORC2-dependent AKT activation. ( 28934384 )
2017
2
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two. ( 28302518 )
2017
3
SHORT syndrome in a two-year-old girl - case report. ( 28472977 )
2017
4
A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. ( 26252249 )
2015
5
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management. ( 26497935 )
2015
6
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. ( 24886349 )
2014
7
PIK3R1 mutations in SHORT syndrome. ( 23980586 )
2013
8
Short syndrome-an expanding phenotype. ( 23665600 )
2013
9
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. ( 24033310 )
2013
10
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. ( 23810379 )
2013
11
Mutations in PIK3R1 cause SHORT syndrome. ( 23810382 )
2013
12
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. ( 21340693 )
2011
13
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. ( 18384141 )
2008
14
Is SHORT syndrome another phenotypic variation of PITX2? ( 15481036 )
2004
15
SHORT syndrome. ( 12514365 )
2003
16
SHORT syndrome: a case with high hyperopia and astigmatism. ( 11135494 )
2000
17
Case report on SHORT syndrome. ( 10457859 )
1999
18
SHORT syndrome: distinctive radiographic features. ( 9571279 )
1998
19
Rieger anomaly and congenital glaucoma in the SHORT syndrome. ( 8790109 )
1996
20
SHORT syndrome: a new case with probable autosomal dominant inheritance. ( 8669449 )
1996
21
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? ( 8574420 )
1995
22
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. ( 7949817 )
1994
23
SHORT Syndrome ( 24830046 )
1993
24
SHORT syndrome and insulin resistance. ( 8279490 )
1993
25
The SHORT syndrome: further delineation and natural history. ( 2664179 )
1989
26
Report of a case and further delineation of the SHORT syndrome. ( 4050863 )
1985

Variations for Short Syndrome

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PIK3R1 NM_181523.2(PIK3R1): c.1615_1617delATT (p.Ile539del) deletion Pathogenic rs397514046 GRCh37 Chromosome 5, 67591022: 67591024
2 PIK3R1 NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys) single nucleotide variant Pathogenic rs397514047 GRCh37 Chromosome 5, 67590403: 67590403
3 PIK3R1 NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp) single nucleotide variant Pathogenic rs397515453 GRCh37 Chromosome 5, 67592129: 67592129
4 PIK3R1 NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs) duplication Pathogenic rs398122384 GRCh37 Chromosome 5, 67592127: 67592127
5 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs) insertion Pathogenic rs398122385 GRCh37 Chromosome 5, 67592090: 67592091
6 PIK3R1 NM_181523.2(PIK3R1): c.1892G> A (p.Arg631Gln) single nucleotide variant Pathogenic rs515726149 GRCh37 Chromosome 5, 67592076: 67592076
7 PIK3R1 NM_181523.2(PIK3R1): c.1906_1907delAA (p.Asn636Profs) deletion Pathogenic rs515726150 GRCh38 Chromosome 5, 68296262: 68296263
8 PIK3R1 NM_181523.2(PIK3R1): c.1971T> G (p.Tyr657Ter) single nucleotide variant Pathogenic rs515726151 GRCh37 Chromosome 5, 67592155: 67592155
9 PIK3R1 NM_181523.2(PIK3R1): c.1106C> T (p.Thr369Ile) single nucleotide variant Likely pathogenic rs587784325 GRCh38 Chromosome 5, 68293187: 68293187
10 PIK3R1 NM_181523.2(PIK3R1): c.1460T> C (p.Phe487Ser) single nucleotide variant Likely pathogenic rs797045063 GRCh37 Chromosome 5, 67590398: 67590398

Expression for Short Syndrome

Search GEO for disease gene expression data for Short Syndrome.

Pathways for Short Syndrome

Pathways related to Short Syndrome according to 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.94 BMP4 IGF1R PIK3R1
2
Show member pathways
12.86 BMP4 IGF1R PIK3R1
3
Show member pathways
12.82 BMP4 IGF1R PIK3R1
4
Show member pathways
12.78 BMP4 IGF1R PIK3R1
5
Show member pathways
12.52 BMP4 IGF1R PIK3R1
6
Show member pathways
12.49 BMP4 IGF1R PIK3R1
7 12.16 BMP4 IGF1R PIK3R1
8
Show member pathways
12.1 BMP4 PIK3R1
9
Show member pathways
12.07 IGF1R PIK3R1
10
Show member pathways
12.06 IGF1R PIK3R1
11
Show member pathways
12.03 IGF1R PIK3R1
12
Show member pathways
11.99 IGF1R PIK3R1
13
Show member pathways
11.96 IGF1R PIK3R1
14 11.94 IGF1R PIK3R1
15
Show member pathways
11.82 IGF1R PIK3R1
16
Show member pathways
11.81 IGF1R PIK3R1
17
Show member pathways
11.77 IGF1R PIK3R1
18
Show member pathways
11.77 IGF1R PIK3R1
19
Show member pathways
11.74 IGF1R PIK3R1
20 11.69 BMP4 PIK3R1
21
Show member pathways
11.68 IGF1R PIK3R1
22 11.63 IGF1R PIK3R1
23 11.57 BMP4 PIK3R1
24 11.54 IGF1R PIK3R1
25 11.48 IGF1R PIK3R1
26 11.48 IGF1R PIK3R1
27 11.24 IGF1R PIK3R1
28 11.03 IGF1R PIK3R1
29 10.98 IGF1R PIK3R1
30 10.94 BMP4 IGF1R PIK3R1
31 10.6 IGF1R PIK3R1
32 10.45 BMP4 IGF1R PIK3R1
33 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 insulin receptor signaling pathway GO:0008286 9.37 IGF1R PIK3R1
3 phosphatidylinositol-mediated signaling GO:0048015 9.26 IGF1R PIK3R1
4 phosphatidylinositol 3-kinase signaling GO:0014065 9.16 IGF1R PIK3R1
5 insulin-like growth factor receptor signaling pathway GO:0048009 8.96 IGF1R PIK3R1
6 positive regulation of cell migration GO:0030335 8.8 BMP4 IGF1R PIK3R1

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

# Name GO ID Score Top Affiliating Genes
1 insulin receptor binding GO:0005158 9.26 IGF1R PIK3R1
2 phosphatidylinositol 3-kinase binding GO:0043548 9.16 IGF1R PIK3R1
3 insulin receptor substrate binding GO:0043560 8.96 IGF1R PIK3R1
4 insulin binding GO:0043559 8.62 IGF1R PIK3R1

Sources for Short Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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