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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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Short Syndrome, also known as aarskog-ose-pande syndrome, is related to insulin resistance and polycystic ovary syndrome, and has symptoms including embryotoxon, deepset eyes/enophthalmos and pupillary anomalies/mydriasis/myosis/tonic pupil. 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:47 269880

GeneReviews summary for short

Aliases & Classifications for Short Syndrome

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Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
short syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

short syndrome 19 43 20 22 21 47 49 62
aarskog-ose-pande syndrome 43 49
short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay 21
short stature, hyperextensibility, hernia, ocular depression, rieger anomaly and teething delay 43
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 43
lipodystrophy - rieger anomaly - diabetes 49
rieger anomaly - partial lipodystrophy 49
growth retardation-rieger anomaly 21


External Ids:

OMIM47 269880
MESH via Orphanet36 C537327
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0878684

Related Diseases for Short Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

269880

Clinical features from OMIM:

269880

Symptoms:

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

Drugs & Therapeutics for Short Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Short Syndrome:

33
Eye, Skin, Bone, Kidney

Animal Models for Short Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Short Syndrome:

37
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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52PubMed
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Articles related to Short Syndrome:

(show all 19)
idTitleAuthorsYear
1
Autosomal dominant PIK3R1 mutations cause SHORT syndrome. (24033310)
2013
2
PIK3R1 mutations in SHORT syndrome. (23980586)
2013
3
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling. (23810379)
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
The SHORT syndrome: further delineation and natural history. (2664179)
1989
19
Report of a case and further delineation of the SHORT syndrome. (4050863)
1985

Variations for Short Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Short Syndrome

Search GEO for disease gene expression data for Short Syndrome.

Pathways for genes affiliated with Short Syndrome

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Sources:
50PathCards, 54R&D Systems, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 30KEGG, 55Reactome, 61Tocris Bioscience, 51PharmGKB
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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 Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3INS, PIK3R1
2
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.3INS, PIK3R1
3
Show member pathways
9.3INS, PIK3R1
4
Show member pathways
Signaling Pathways in Glioblastoma38
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 events38
ErbB2/ErbB3 signaling events38
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 events38
Polo-like kinase signaling events in the cell cycle38
9.3INS, PIK3R1
10
Show member pathways
9.3INS, PIK3R1
11
Show member pathways
Insulin Pathway38
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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45Novoseek, 11DrugBank, 24HMDB, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR
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Compounds related to Short Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose45 1110.6INS, PIK3R1
2wortmannin459.3INS, PIK3R1
3gp 130459.3BMP4, PIK3R1
4bromodeoxyuridine459.3PIK3R1, BMP4
5glycogen45 2410.2PIK3R1, INS
6matrigel459.2BMP4, PIK3R1
7sb 20358045 6110.1PIK3R1, BMP4
8pd 98,059459.1BMP4, PIK3R1
9thymidine45 2410.0BMP4, PIK3R1
10rapamycin458.8BMP4, INS, PIK3R1
11ly294002458.8PIK3R1, INS, BMP4
12dexamethasone45 51 29 1111.8BMP4, INS, PIK3R1
13phosphatidylinositol458.8PIK3R1, INS, BMP4
14estrogen458.8BMP4, INS, PIK3R1
15forskolin45 51 1110.7BMP4, PIK3R1
16serine458.7BMP4, INS, PIK3R1
17tyrosine458.7PIK3R1, INS, BMP4

GO Terms for genes affiliated with Short Syndrome

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16Gene Ontology
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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
  • Antibodies

Sources for Short Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet