DGSX
MCID: SMP003
MIFTS: 45

Simpson-Golabi-Behmel Syndrome (DGSX) malady

Neuronal category

Summaries for Simpson-Golabi-Behmel Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 Simpson-golabi-behmel syndrome (sgbs) is a condition that affects many parts of the body and occurs primarily in males. it is an overgrowth syndrome, which means that affected individuals have macrosomia and continue to grow and gain weight at an unusual rate. the severity varies from very mild forms in carrier females to infantile lethal forms in affected males. individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. some people with the condition have mild to severe intellectual disability. about 10 percent of people with sgbs develop tumors in early childhood, including wilms tumor and neuroblastoma. some cases of sgbs are caused by mutations in the gpc3 gene and in other cases, the cause is unknown. it is inherited in an x-linked recessive manner. last updated: 2/15/2011

MalaCards: Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to beckwith-wiedemann syndrome and sotos syndrome. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (glypican 3), and among its related pathways are Visual phototransduction and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds diethylnitrosamine and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include liver, tongue and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood.

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

simpson-golabi-behmel syndrome 43 22 21
sgbs1 43 21
sgbs 43 21
dysplasia gigantism syndrome, x-linked 43
simpson-golabi-behmel syndrome, type 1 61
mental retardation-overgrowth syndrome 21
simpson dysplasia syndrome 21
golabi-rosen syndrome 43
bulldog syndrome 43
simpson syndrome 21
sdys 21
dgsx 21


Related Diseases for Simpson-Golabi-Behmel Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome:



Diseases related to simpson-golabi-behmel syndrome

Clinical Features for Simpson-Golabi-Behmel Syndrome

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Simpson-Golabi-Behmel Syndrome

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22GTR
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Genetic tests related to Simpson-Golabi-Behmel Syndrome:

id Genetic test Affiliating Genes
1 Simpson-golabi-behmel Syndrome22

Anatomical Context for Simpson-Golabi-Behmel Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome:

33
Liver, Tongue, Heart, Prostate, Fetal liver

Animal Models for Simpson-Golabi-Behmel Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4GPC3, IGF2R, IGF2, OFD1
2MP:00053828.4OFD1, IGF2, IGF2R, GPC3
3MP:00053678.3OFD1, IGF2, IGF2R, GPC3
4MP:00053888.3GPC3, IGF2R, IGF2, OFD1
5MP:00053808.3OFD1, GPC3, IGF2, IGF2R
6MP:00053908.0IGF2R, OFD1, IGF2, GPC3
7MP:00053787.5DPP4, GPC3, IGF2R, IGF2, OFD1

Publications for Simpson-Golabi-Behmel Syndrome

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51PubMed
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Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. (24214682)
2014
2
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. (24169032)
2013
3
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. (24357529)
2013
4
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. (23463737)
2013
5
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. (24115482)
2013
6
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (24166811)
2013
7
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. (23606591)
2013
8
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. (22807161)
2012
9
A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review. (21362501)
2011
10
Simpson-Golabi-Behmel syndrome associated with cleft palate. (21959466)
2011
11
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. (21204223)
2011
12
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. (21434539)
2010
13
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (20683991)
2010
14
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (21082656)
2010
15
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. (19842194)
2009
16
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. (19372699)
2009
17
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. (19590577)
2009
18
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. (19681434)
2009
19
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. (18619000)
2008
20
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. (18203194)
2008
21
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (17850639)
2007
22
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. (17603795)
2007
23
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. (16458828)
2006
24
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)
2005
25
Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)
2003
26
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)
2003
27
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. (12713262)
2003
28
Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. (11846487)
2002
29
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)
2001
30
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. (11286501)
2001
31
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss- of-function mutations in the GPC3 gene. (10814714)
2000
32
Multiple odontogenic keratocysts in mental retardation-overgrowth (Simpson-Golabi-Behmel) syndrome. (10864729)
2000
33
Choledochal cyst in Simpson-Golabi-Behmel syndrome. (10564884)
1999
34
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. (9950367)
1999
35
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome. (10496077)
1999
36
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. (9853964)
1998
37
GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. (9787072)
1998
38
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (9192268)
1997
39
Mapping of the Simpson-Golabi-Behmel overgrowth syndrome gene (GPC3) to chromosome X in human and rat by fluorescence in situ hybridization. (9021160)
1997
40
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. (8589713)
1996
41
Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families. (8958336)
1996
42
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. (8599356)
1995
43
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)
1994
44
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)
1994
45
Simpson-Golabi-Behmel Syndrome Type 1 (20301398)
1993
46
Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. (8322824)
1993
47
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. (1456279)
1992
48
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. (1605222)
1992
49
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias. (2018065)
1991
50
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (3177455)
1988

Genetic Variations for Simpson-Golabi-Behmel Syndrome

Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Simpson-Golabi-Behmel Syndrome

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.

Pathways for genes affiliated with Simpson-Golabi-Behmel Syndrome

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54Reactome
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Pathways related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5GPC3, GPC4
2
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9.5GPC3, GPC4
3
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9.5GPC3, GPC4

Compounds for genes affiliated with Simpson-Golabi-Behmel Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diethylnitrosamine459.6IGF2, GPC3
2c-peptide459.3IGF2, DPP4
3proliferin459.3IGF2R, IGF2
4perillyl alcohol45 2410.1IGF2, IGF2R
5heparan sulfate45 249.8IGF2R, GPC4, GPC3
6Alpha-D-Mannose118.7DPP4, IGF2R
7mannose 6-phosphate45 249.7DPP4, IGF2R, IGF2
8glycogen45 249.4IGF2, IGF2R, DPP4

GO Terms for genes affiliated with Simpson-Golabi-Behmel Syndrome

Sources:
16Gene Ontology
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Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.5GPC3, GPC4
2lysosomal lumenGO:0432029.2GPC3, GPC4
3endocytic vesicleGO:0301398.9DPP4, IGF2R

Biological processes related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:0060279.7GPC3, GPC4
2glycosaminoglycan biosynthetic processGO:0060249.7GPC3, GPC4
3chondroitin sulfate metabolic processGO:0302049.6GPC3, GPC4
4retinoid metabolic processGO:0015239.5GPC4, GPC3
5glycosaminoglycan metabolic processGO:0302039.5GPC3, GPC4
6phototransduction, visible lightGO:0076039.4GPC3, GPC4
7anatomical structure morphogenesisGO:0096539.2GPC3, GPC4

Molecular functions related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparan sulfate proteoglycan bindingGO:0433959.5GPC3, GPC4

Products for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Sources for Simpson-Golabi-Behmel 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