MCID: SHR029
MIFTS: 55

Short Syndrome malady

Eye, Endocrine, Fetal, Oral categories

Summaries for Short Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 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 n syndrome and myeloma, and has symptoms including frontal bossing/prominent forehead, hypertelorism and flat cheek bones/malar hypoplasia. An important gene associated with Short Syndrome is PIK3R1 (phosphoinositide-3-kinase, regulatory subunit 1 (alpha)), and among its related pathways are Type II diabetes mellitus and Development Prolactin receptor signaling. The compounds matrigel and 2-deoxyglucose have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotypes are liver/biliary system and normal.

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

Description from OMIM:47 269880

Aliases & Classifications for Short Syndrome

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Eye, Endocrine, Oral


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

short syndrome 43 20 22 21 47 49 61
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
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 Orphanet62 C0878684

Related Diseases for Short Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Short Syndrome:



Diseases related to short syndrome

Clinical Features for Short Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

269880

Clinical synopsis from OMIM:

269880

Symptoms:

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

Drugs & Therapeutics for Short Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Short Syndrome:

id Genetic test Affiliating Genes
1 Short Syndrome20 22

Anatomical Context for Short Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Short Syndrome:

33
Skin, Ovary, Liver, Tongue, Spinal cord, Brain, Kidney, Bone marrow, Whole blood, Heart, Skeletal muscle, Small intestine, Colon, Pancreas, Thyroid, Salivary gland, Adrenal gland, Breast, Cervix, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Trachea, Fetal thyroid, Pituitary

Animal Models for Short Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Short Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5INS, PIK3R1, BMP4
2MP:00028738.5INS, PIK3R1, BMP4
3MP:00030128.4INS, PIK3R1, BMP4
4MP:00053698.2BMP4, PIK3R1, INS

Publications for Short Syndrome

Sources:
51PubMed
See all sources

Articles related to Short Syndrome:

(show top 50)    (show all 1168)
idTitleAuthorsYear
1
PIK3R1 mutations in SHORT syndrome. (23980586)
2013
2
The comparison of the intestinal adaptation effects of subcutaneous and oral insulin in a rats with short bowel syndrome. (23860054)
2013
3
The long and short of it: insights into the Short QT Syndrome. (24333498)
2013
4
Atopic dermatitis, short stature, skeletal malformations, hyperimmunoglobulin E syndrome, hypereosinophilia and recurrent infections: a case report. (24199610)
2013
5
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. (23910462)
2013
6
Short bowel syndrome/intestinal failure. (23988136)
2013
7
Short bowel syndrome after endovascular recanalization of superior mesenteric artery embolic occlusion: a rare event. (23177118)
2012
8
Nifekalant enlarged the transmural activation-recovery interval difference as well as the peak-to-end interval on surface ECG in a patient with short-QT syndrome. (22494577)
2012
9
Microvolt T-wave alternans in short QT syndrome. (22897428)
2012
10
Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. (21567912)
2011
11
Spine-shortening osteotomy for patients with tethered cord syndrome caused by lipomyelomeningocele. (21495816)
2011
12
Shortness of breath while sitting up: hepatopulmonary syndrome. (20940238)
2011
13
Unexpected erythroid and cytogenetic responses after discontinuation of a short course of lenalidomide as a result of severe skin rash in a patient with 5q syndrome. (21357784)
2011
14
Intestinal lengthening in adult patients with short bowel syndrome. (20734155)
2010
15
Wildervanck syndrome associated with cleft palate and short stature. (20534924)
2010
16
Does the colon play a role in intestinal adaptation in infants with short bowel syndrome? A multiple variable analysis. (20438938)
2010
17
Congenital short QT syndrome. (20126594)
2010
18
Determinants of interleukin-6 and C-reactive protein vary in polycystic ovary syndrome, as do effects of short- and long-term metformin therapy. (19188739)
2009
19
Nutritional effects of the serial transverse enteroplasty procedure in experimental short bowel syndrome. (19635304)
2009
20
Repeat STEP procedure to establish enteral nutrition in an infant with short bowel syndrome. (19697048)
2009
21
Relationship between serum citrulline levels and progression to parenteral nutrition independence in children with short bowel syndrome. (19433172)
2009
22
Short bowel syndrome in the research setting: 15 years' experience]. (18624270)
2008
23
Emergency cerclage in cases of twin-to-twin transfusion syndrome with a short cervix at the time of surgery and relationship to perinatal outcome. (19039797)
2008
24
The short QT syndrome as a paradigm to understand the role of potassium channels in ventricular fibrillation. (16336511)
2006
25
High-intensity, short-term biofeedback in children with Hinman's syndrome (non-neuropathic voiding dyssynergia). (18947634)
2006
26
Disopyramide: although potentially life-threatening in the setting of long QT, could it be life-saving in short QT syndrome? (16863649)
2006
27
Targeted therapy for short QT syndrome. (16706679)
2006
28
Growth hormone favorably affects bone turnover and bone mineral density in patients with short bowel syndrome undergoing intestinal rehabilitation. (17047171)
2006
29
What is the evidence on the practice of mucous fistula refeeding in neonates with short bowel syndrome? (16878000)
2006
30
Strategies for parenteral nutrition weaning in adult patients with short bowel syndrome. (16770168)
2006
31
High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation. (17058284)
2006
32
Growth hormone, glutamine, and an optimal diet reduces parenteral nutrition in patients with short bowel syndrome: a prospective, randomized, placebo-controlled, double-blind clinical trial. (16244538)
2005
33
Criteria for the use of recombinant human growth hormone in short bowel syndrome. (16207690)
2005
34
Short QT syndrome. What is it? Where is it? (16521657)
2005
35
Evaluation of intestinal absorption after longitudinal intestinal lengthening for short bowel syndrome. (16226989)
2005
36
Total parenteral nutrition, intestinal adaptation, and short bowel syndrome. (14990282)
2004
37
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? (12525550)
2003
38
Peptide growth factors and intestinal adaptation in short bowel syndrome. (12725139)
2003
39
Non ST elevation acute coronary syndrome. Some characteristics of coagulation and von Willebrand factor during short term use of ticlopidine or clopidogrel]. (14593356)
2003
40
Factors affecting prognosis in patients with short bowel syndrome. (14664187)
2003
41
Short term toxicity profile for 32 sinonasal cancer patients treated with IMRT. Can we avoid dry eye syndrome? (12242131)
2002
42
Epidermal growth factor improves nutritional outcome in a rat model of short bowel syndrome. (11987096)
2002
43
Effect of bowel resection and high-fat diet on heart CD36/fatty-acid translocase expression in a rat model of short-bowel syndrome. (12471478)
2002
44
Short stature in Noonan syndrome: response to growth hormone therapy. (11316696)
2001
45
Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome? (10465117)
1999
46
Elevated serum TNF-alpha concentrations are predictive of shortened survival in patients with high-risk myelodysplastic syndromes. (9704253)
1998
47
Plasma growth hormone-binding protein activity, insulin-like growth factor I, and its binding protein levels in patients with Turner's syndrome: effect of short- and long-term recombinant human growth hormone administration. (7535419)
1995
48
Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an XYY karyotype. A 'new' syndrome? (1342873)
1992
49
The SHORT syndrome: further delineation and natural history. (2664179)
1989
50
Antenatal detection of recurrence of Majewski dwarf (short rib-polydactyly syndrome type II Majewski). (6288313)
1982

Genetic Variations for Short Syndrome

Expression for genes affiliated with Short Syndrome

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 50PharmGKB, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome, 53R&D Systems, 52QIAGEN
See all sources

Pathways related to Short Syndrome according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.3INS, PIK3R1
2
Development Prolactin receptor signaling
Hide members
9.3INS, PIK3R1
3
Hide members
9.3INS, PIK3R1
4
Hide members
9.3INS, PIK3R1
5
Hide members
9.3INS, PIK3R1
69.3INS, PIK3R1
7
Translation Insulin regulation of translation
Hide members
9.3INS, PIK3R1
89.3INS, PIK3R1
99.3INS, PIK3R1
10
Hide members
9.3INS, PIK3R1
11
Hide members
9.3INS, PIK3R1
12
Hide members
9.3PIK3R1, INS
139.3PIK3R1, INS
149.3PIK3R1, INS
159.3PIK3R1, INS
169.1INS, BMP4
179.1INS, BMP4
18
Hide members
9.0PIK3R1, BMP4
19
Hide members
9.0BMP4, PIK3R1
20
Hide members
9.0PIK3R1, BMP4
21
Hide members
8.5INS, PIK3R1, BMP4
22
Hide members
8.5INS, PIK3R1, BMP4
23
Hide members
8.5BMP4, PIK3R1, INS
24
Hide members
8.5BMP4, PIK3R1, INS

Compounds for genes affiliated with Short Syndrome

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR
See all sources

Compounds related to Short Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1matrigel459.8PIK3R1
22-deoxyglucose45 1110.5INS, PIK3R1
3gp 130459.1PIK3R1, BMP4
4bromodeoxyuridine459.1PIK3R1, BMP4
5sb 20358045 6010.0PIK3R1, BMP4
6rapamycin458.8INS, PIK3R1, BMP4
7ly294002458.7INS, PIK3R1, BMP4
8dexamethasone45 50 29 1111.7BMP4, PIK3R1, INS
9phosphatidylinositol458.7INS, PIK3R1, BMP4
10estrogen458.7BMP4, PIK3R1, INS
11serine458.5BMP4, PIK3R1, INS
12tyrosine458.2INS, PIK3R1, BMP4

GO Terms for genes affiliated with Short Syndrome

Sources:
16Gene 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
3positive regulation of apoptotic processGO:0430659.0PIK3R1, BMP4
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Short Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet