MCID: SHR029
MIFTS: 55

Short Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Oral diseases categories
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Summaries for Short Syndrome

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NIH Rare Diseases:42 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. the condition appears to be inherited in an autosomal dominant manner. treatment focuses on the specific symptoms present in each individual. last updated: 11/2/2011

MalaCards based summary: Short Syndrome, also known as aarskog-ose-pande syndrome, is related to insulin resistance and polycystic ovary syndrome, and has symptoms including deepset eyes/enophthalmos, anterior chamber anomaly and aniridia/iris hypoplasia. An important gene associated with Short Syndrome is PIK3R1 (phosphoinositide-3-kinase, regulatory subunit 1 (alpha)), and among its related pathways are IL-9 Signaling Pathways and Prolactin signaling pathway. The compounds 2-deoxyglucose and wortmannin have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are liver/biliary system and no phenotypic analysis.

Genetics Home Reference:21 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:65 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...

Description from OMIM:46 269880

GeneReviews summary for short

Aliases & Classifications for Short Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Short Syndrome, Aliases & Descriptions:

Name: Short Syndrome 19 42 20 22 21 46 48 62
Aarskog-Ose-Pande Syndrome 42 48
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay 21
Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly and Teething Delay 42
Pik3r1-Associated Syndromic Insulin Resistance with Lipoatrophy 19
Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay 21
 
Lipodystrophy, Partial, with Rieger Anomaly and Short Stature 21
Partial Lipodystrophy with Rieger Anomaly and Short Stature 42
Lipodystrophy - Rieger Anomaly - Diabetes 48
Rieger Anomaly - Partial Lipodystrophy 48
Growth Retardation-Rieger Anomaly 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
short syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 269880
MESH via Orphanet35 C537327
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0878684

Related Diseases for Short Syndrome

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Graphical network of diseases related to Short Syndrome:



Diseases related to short syndrome

Symptoms for Short Syndrome

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Symptoms by clinical synopsis from OMIM:

269880

Clinical features from OMIM:

269880

Symptoms:

48 (show all 40)
  • deepset eyes/enophthalmos
  • anterior chamber anomaly
  • aniridia/iris hypoplasia
  • sensorineural deafness/hearing loss
  • inguinal/inguinoscrotal/crural hernia
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • short stature/dwarfism/nanism
  • face/facial anomalies
  • mid-facial hypoplasia/short/small midface
  • glaucoma
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • megalocornea
  • anomalies of teeth and dentition
  • complete/partial microdontia
  • enamel anomaly
  • rippled skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • diabetes mellitus
  • insulin resistance
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • abnormal fat distribution/lipodystrophy
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • frontal bossing/prominent forehead
  • triangular face
  • hypertelorism
  • prominent supraorbital ridge
  • flat cheek bones/malar hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • corneal clouding/opacity/vascularisation
  • embryotoxon
  • iridocorneal dysgenesis/iridogoniodysgenesis
  • telecanthus/canthal dystopy
  • broad nasal root
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • clinodactyly of fifth finger
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • myotonia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Short Syndrome:

(show all 72)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 deeply set eye hallmark (90%) HP:0000490
3 abnormality of the anterior chamber hallmark (90%) HP:0000593
4 joint hypermobility hallmark (90%) HP:0001382
5 hernia of the abdominal wall hallmark (90%) HP:0004299
6 short stature hallmark (90%) HP:0004322
7 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
8 malar flattening typical (50%) HP:0000272
9 megalocornea typical (50%) HP:0000485
10 glaucoma typical (50%) HP:0000501
11 abnormality of the pupil typical (50%) HP:0000615
12 abnormality of dental enamel typical (50%) HP:0000682
13 microdontia typical (50%) HP:0000691
14 diabetes mellitus typical (50%) HP:0000819
15 insulin resistance typical (50%) HP:0000855
16 weight loss typical (50%) HP:0001824
17 neurological speech impairment typical (50%) HP:0002167
18 abnormality of adipose tissue typical (50%) HP:0009124
19 abnormal hair quantity typical (50%) HP:0011362
20 hypertelorism occasional (7.5%) HP:0000316
21 triangular face occasional (7.5%) HP:0000325
22 prominent supraorbital ridges occasional (7.5%) HP:0000336
23 micrognathia occasional (7.5%) HP:0000347
24 wide nasal bridge occasional (7.5%) HP:0000431
25 telecanthus occasional (7.5%) HP:0000506
26 posterior embryotoxon occasional (7.5%) HP:0000627
27 nephrolithiasis occasional (7.5%) HP:0000787
28 brachydactyly syndrome occasional (7.5%) HP:0001156
29 hand polydactyly occasional (7.5%) HP:0001161
30 frontal bossing occasional (7.5%) HP:0002007
31 myotonia occasional (7.5%) HP:0002486
32 abnormality of the hip bone occasional (7.5%) HP:0003272
33 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
34 opacification of the corneal stroma occasional (7.5%) HP:0007759
35 cheekbone underdevelopment occasional (7.5%) HP:0010669
36 autosomal dominant inheritance HP:0000006
37 inguinal hernia HP:0000023
38 triangular face HP:0000325
39 micrognathia HP:0000347
40 macrotia HP:0000400
41 sensorineural hearing impairment HP:0000407
42 underdeveloped nasal alae HP:0000430
43 wide nasal bridge HP:0000431
44 megalocornea HP:0000485
45 deeply set eye HP:0000490
46 glaucoma HP:0000501
47 telecanthus HP:0000506
48 cataract HP:0000518
49 myopia HP:0000545
50 rieger anomaly HP:0000558
51 hypodontia HP:0000668
52 delayed eruption of teeth HP:0000684
53 dental malocclusion HP:0000689
54 delayed speech and language development HP:0000750
55 insulin-resistant diabetes mellitus HP:0000831
56 glucose intolerance HP:0000833
57 thin skin HP:0000963
58 joint laxity HP:0001388
59 intrauterine growth retardation HP:0001511
60 small for gestational age HP:0001518
61 frontal bossing HP:0002007
62 abnormality of the immune system HP:0002715
63 delayed skeletal maturation HP:0002750
64 hyperglycemia HP:0003074
65 birth length less than 3rd percentile HP:0003561
66 radial deviation of finger HP:0009466
67 enlarged epiphyses HP:0010580
68 chin dimple HP:0010751
69 prominent forehead HP:0011220
70 clinodactyly HP:0030084
71 premature skin wrinkling HP:0100678
72 premature skin wrinkling HP:0100678

Drugs & Therapeutics for Short Syndrome

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Drug clinical trials:

Search ClinicalTrials for Short Syndrome

Search NIH Clinical Center for Short Syndrome

Genetic Tests for Short Syndrome

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Genetic tests related to Short Syndrome:

id Genetic test Affiliating Genes
1 Short Syndrome20 22

Anatomical Context for Short Syndrome

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MalaCards organs/tissues related to Short Syndrome:

32
Eye, Skin, Bone, Kidney

Animal Models for Short Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Short Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7BMP4, INS, PIK3R1
2MP:00030128.6PIK3R1, INS, BMP4
3MP:00053698.6BMP4, INS, PIK3R1
4MP:00028738.5PIK3R1, INS, BMP4
5MP:00053848.5BMP4, INS, PIK3R1
6MP:00053858.4BMP4, INS, PIK3R1
7MP:00053978.2PIK3R1, INS, BMP4

Publications for Short Syndrome

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Articles related to Short Syndrome:

(show all 20)
idTitleAuthorsYear
1
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome. (24886349)
2014
2
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. (24033310)
2013
3
PIK3R1 mutations in SHORT syndrome. (23980586)
2013
4
Short syndrome-an expanding phenotype. (23665600)
2013
5
Mutations in PIK3R1 cause SHORT syndrome. (23810382)
2013
6
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (21340693)
2011
7
Nephrocalcinosis and disordered calcium metabolism in two children with SHORT syndrome. (18384141)
2008
8
Is SHORT syndrome another phenotypic variation of PITX2? (15481036)
2004
9
SHORT syndrome. (12514365)
2003
10
SHORT syndrome: a case with high hyperopia and astigmatism. (11135494)
2000
11
Case report on SHORT syndrome. (10457859)
1999
12
SHORT syndrome: distinctive radiographic features. (9571279)
1998
13
Rieger anomaly and congenital glaucoma in the SHORT syndrome. (8790109)
1996
14
SHORT syndrome: a new case with probable autosomal dominant inheritance. (8669449)
1996
15
Absent iris stroma, narrow body build and small facial bones: a new association or variant of SHORT syndrome? (8574420)
1995
16
Insulin-resistant diabetes during growth hormone therapy in a child with SHORT syndrome. (7949817)
1994
17
SHORT syndrome and insulin resistance. (8279490)
1993
18
SHORT Syndrome (24830046)
1993
19
The SHORT syndrome: further delineation and natural history. (2664179)
1989
20
Report of a case and further delineation of the SHORT syndrome. (4050863)
1985

Variations for Short Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1PIK3R1p.Glu489LysVAR_070221
2PIK3R1p.Arg649TrpVAR_070223

Clinvar genetic disease variations for Short Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1PIK3R1NM_181523.2(PIK3R1): c.1615_1617delATT (p.Ile539del)deletionPathogenicrs397514046GRCh37Chr 5, 67591022: 67591024
2PIK3R1NM_181523.2(PIK3R1): c.1465G> A (p.Glu489Lys)single nucleotide variantPathogenicrs397514047GRCh37Chr 5, 67590403: 67590403
3PIK3R1NM_181523.2(PIK3R1): c.1945C> T (p.Arg649Trp)single nucleotide variantPathogenicrs397515453GRCh37Chr 5, 67592129: 67592129
4PIK3R1NM_181523.2(PIK3R1): c.1943dupT (p.Arg649Profs)duplicationPathogenicrs398122384GRCh37Chr 5, 67592127: 67592127
5PIK3R1NM_181523.2(PIK3R1): c.1906_1907insC (p.Asn636Thrfs)insertionPathogenicrs398122385GRCh37Chr 5, 67592090: 67592091

Expression for genes affiliated with Short Syndrome

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Expression patterns in normal tissues for genes affiliated with Short Syndrome

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Pathways for genes affiliated with Short Syndrome

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Pathways related to Short Syndrome according to GeneCards/GeneDecks:

(show all 31)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
9.3INS, PIK3R1
2
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.3INS, PIK3R1
3
Show member pathways
9.3INS, PIK3R1
4
Show member pathways
Signaling Pathways in Glioblastoma37
9.3INS, PIK3R1
5
Show member pathways
9.3INS, PIK3R1
6
Show member pathways
9.3INS, PIK3R1
79.3INS, PIK3R1
8
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.3INS, PIK3R1
9
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.3INS, PIK3R1
10
Show member pathways
9.3INS, PIK3R1
11
Show member pathways
Insulin Pathway37
9.3INS, PIK3R1
129.3INS, PIK3R1
139.3INS, PIK3R1
149.3INS, PIK3R1
15
Show member pathways
9.3INS, PIK3R1
16
Show member pathways
9.3PIK3R1, INS
17
Show member pathways
9.3PIK3R1, INS
189.3PIK3R1, INS
19
Show member pathways
9.3PIK3R1, INS
209.1BMP4, INS
219.1BMP4, INS
22
Show member pathways
9.0BMP4, PIK3R1
23
Show member pathways
9.0PIK3R1, BMP4
249.0BMP4, PIK3R1
25
Show member pathways
9.0BMP4, PIK3R1
269.0BMP4, PIK3R1
27
Show member pathways
9.0BMP4, PIK3R1
28
Show member pathways
8.5BMP4, INS, PIK3R1
29
Show member pathways
8.5BMP4, INS, PIK3R1
30
Show member pathways
8.5PIK3R1, INS, BMP4
31
Show member pathways
8.5PIK3R1, INS, BMP4

Compounds for genes affiliated with Short Syndrome

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Compounds related to Short Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose44 1110.6INS, PIK3R1
2wortmannin449.3INS, PIK3R1
3gp 130449.3BMP4, PIK3R1
4bromodeoxyuridine449.3PIK3R1, BMP4
5glycogen44 2410.2PIK3R1, INS
6matrigel449.2BMP4, PIK3R1
7sb 20358044 6110.1PIK3R1, BMP4
8pd 98,059449.1BMP4, PIK3R1
9thymidine44 2410.0BMP4, PIK3R1
10rapamycin448.8BMP4, INS, PIK3R1
11ly294002448.8PIK3R1, INS, BMP4
12dexamethasone44 50 28 1111.8BMP4, INS, PIK3R1
13phosphatidylinositol448.8PIK3R1, INS, BMP4
14estrogen448.8BMP4, INS, PIK3R1
15forskolin44 50 1110.7BMP4, PIK3R1
16serine448.7BMP4, INS, PIK3R1
17tyrosine448.7PIK3R1, INS, BMP4

GO Terms for genes affiliated with Short Syndrome

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Biological processes related to Short Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of glucose importGO:0463269.3INS, PIK3R1
2positive regulation of cell migrationGO:0303359.2INS, PIK3R1
3negative regulation of apoptotic processGO:0430669.0BMP4, PIK3R1
4insulin receptor signaling pathwayGO:0082869.0INS, PIK3R1

Molecular functions related to Short Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin receptor bindingGO:0051589.3INS, PIK3R1
2insulin-like growth factor receptor bindingGO:0051599.0INS, PIK3R1

Products for genes affiliated with Short Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Short Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet