MCID: SHR029
MIFTS: 49

Short Syndrome malady

Eye diseases, Endocrine diseases, Fetal diseases, Oral diseases categories

Summaries for Short Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Short Syndrome, also known as aarskog-ose-pande syndrome, is related to myeloma and prolactinoma, 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 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 eye, skin and kidney, 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:63 SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in... more...

Description from OMIM:46 269880

Aliases & Classifications for Short Syndrome

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

short syndrome 42 20 22 21 46 48 60
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
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


External Ids:

OMIM46 269880
MESH via Orphanet35 C537327
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0878684

Related Diseases for Short Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Short Syndrome:



Diseases related to short syndrome

Clinical Features for Short Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

269880

Clinical synopsis from OMIM:

269880

Symptoms:

48 (show all 40)
  • embryotoxon
  • deepset eyes/enophthalmos
  • pupillary anomalies/mydriasis/myosis/tonic pupil
  • upper limb polydactyly/hexadactyly
  • enamel anomaly
  • glaucoma
  • face/facial anomalies
  • clinodactyly of fifth finger
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • aniridia/iris hypoplasia
  • megalocornea
  • triangular face
  • abnormal fat distribution/lipodystrophy
  • insulin resistance
  • anterior chamber anomaly
  • rippled skin
  • iridocorneal dysgenesis/iridogoniodysgenesis
  • 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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Short Syndrome

Search CenterWatch for Short Syndrome

Genetic Tests for Short Syndrome

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Short Syndrome:

32
Eye, Skin, Kidney, Bone

Animal Models for Short Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Short Syndrome:

36
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

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Genetic Variations for Short Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Short Syndrome:

62
id Symbol AA change Variation ID SNP ID
1PIK3R1p.Glu489LysVAR_070221
2PIK3R1p.Arg649TrpVAR_070223

Expression for genes affiliated with Short Syndrome

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1BioGPS, 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:
29KEGG, 49PharmGKB, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome, 52R&D Systems, 51QIAGEN
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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
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9.3INS, PIK3R1
3
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9.3INS, PIK3R1
4
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9.3INS, PIK3R1
5
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9.3INS, PIK3R1
69.3INS, PIK3R1
7
Translation Insulin regulation of translation
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9.3INS, PIK3R1
89.3INS, PIK3R1
99.3INS, PIK3R1
10
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9.3INS, PIK3R1
11
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9.3INS, PIK3R1
12
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9.3PIK3R1, INS
139.3PIK3R1, INS
149.3PIK3R1, INS
159.3PIK3R1, INS
169.1INS, BMP4
179.1INS, BMP4
18
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9.0PIK3R1, BMP4
19
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9.0BMP4, PIK3R1
20
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9.0PIK3R1, BMP4
21
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8.5INS, PIK3R1, BMP4
22
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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

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR
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Compounds related to Short Syndrome according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1matrigel449.8PIK3R1
22-deoxyglucose44 1110.5INS, PIK3R1
3gp 130449.1PIK3R1, BMP4
4bromodeoxyuridine449.1PIK3R1, BMP4
5sb 20358044 5910.0PIK3R1, BMP4
6rapamycin448.8INS, PIK3R1, BMP4
7ly294002448.7INS, PIK3R1, BMP4
8dexamethasone44 49 28 1111.7BMP4, PIK3R1, INS
9phosphatidylinositol448.7INS, PIK3R1, BMP4
10estrogen448.7BMP4, PIK3R1, INS
11serine448.5BMP4, PIK3R1, INS
12tyrosine448.2INS, PIK3R1, 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
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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet