MCID: SHR029
MIFTS: 55

Short Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Endocrine diseases, Fetal diseases, Oral diseases categories

Summaries for Short Syndrome

About this section
Sources:
44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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.

Wikipedia:66 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...

Description from OMIM:48 269880

GeneReviews summary for short

Aliases & Classifications for Short Syndrome

About this section
Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
short syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

short syndrome 20 44 21 23 22 48 50 63
aarskog-ose-pande syndrome 44 50
short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay 22
short stature, hyperextensibility, hernia, ocular depression, rieger anomaly and teething delay 44
pik3r1-associated syndromic insulin resistance with lipoatrophy 20
short stature-hyperextensibility-rieger anomaly-teething delay 22
lipodystrophy, partial, with rieger anomaly and short stature 22
partial lipodystrophy with rieger anomaly and short stature 44
lipodystrophy - rieger anomaly - diabetes 50
rieger anomaly - partial lipodystrophy 50
growth retardation-rieger anomaly 22


External Ids:

OMIM48 269880
MESH via Orphanet37 C537327
ICD10 via Orphanet27 Q87.1
UMLS via Orphanet64 C0878684

Related Diseases for Short Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of diseases related to Short Syndrome:



Diseases related to short syndrome

Symptoms for Short Syndrome

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

269880

Clinical features from OMIM:

269880

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Short Syndrome

Drug clinical trials:

Search ClinicalTrials for Short Syndrome

Search NIH Clinical Center for Short Syndrome

Search CenterWatch for Short Syndrome

Genetic Tests for Short Syndrome

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Short Syndrome:

id Genetic test Affiliating Genes
1 Short Syndrome21 23

Anatomical Context for Short Syndrome

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Short Syndrome:

34
Eye, Skin, Bone, Kidney

Animal Models for Short Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Short Syndrome:

38
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

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 55R&D Systems, 39NCBI BioSystems Database, 61Thomson Reuters, 54QIAGEN, 31KEGG, 56Reactome, 62Tocris Bioscience, 52PharmGKB
See all sources

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 Pathway39
Development Thrombopoietin regulated cell processes61
IL-7 Signaling Pathway39
Immune response IL 9 signaling pathway61
9.3INS, PIK3R1
2
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.3INS, PIK3R1
3
Show member pathways
9.3INS, PIK3R1
4
Show member pathways
Signaling Pathways in Glioblastoma39
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 regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.3INS, PIK3R1
9
Show member pathways
PLK2 and PLK4 events39
Polo-like kinase signaling events in the cell cycle39
9.3INS, PIK3R1
10
Show member pathways
9.3INS, PIK3R1
11
Show member pathways
Insulin Pathway39
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

About this section
Sources:
46Novoseek, 12DrugBank, 25HMDB, 62Tocris Bioscience, 52PharmGKB, 30IUPHAR
See all sources

Compounds related to Short Syndrome according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
12-deoxyglucose46 1210.6INS, PIK3R1
2wortmannin469.3INS, PIK3R1
3gp 130469.3BMP4, PIK3R1
4bromodeoxyuridine469.3PIK3R1, BMP4
5glycogen46 2510.2PIK3R1, INS
6matrigel469.2BMP4, PIK3R1
7sb 20358046 6210.1PIK3R1, BMP4
8pd 98,059469.1BMP4, PIK3R1
9thymidine46 2510.0BMP4, PIK3R1
10rapamycin468.8BMP4, INS, PIK3R1
11ly294002468.8PIK3R1, INS, BMP4
12dexamethasone46 52 30 1211.8BMP4, INS, PIK3R1
13phosphatidylinositol468.8PIK3R1, INS, BMP4
14estrogen468.8BMP4, INS, PIK3R1
15forskolin46 52 1210.7BMP4, PIK3R1
16serine468.7BMP4, INS, PIK3R1
17tyrosine468.7PIK3R1, INS, BMP4

GO Terms for genes affiliated with Short Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet