DGSX
MCID: SMP003
MIFTS: 54

Simpson-Golabi-Behmel Syndrome (DGSX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Nephrological diseases, Fetal diseases, Cancer diseases categories
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Summaries for Simpson-Golabi-Behmel Syndrome

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NIH Rare Diseases:42 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 based summary: Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to hepatoblastoma and beckwith-wiedemann syndrome. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (glypican 3), and among its related pathways are Diseases associated with visual transduction and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds diethylnitrosamine and 5-aza-2deoxycytidine have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and liver, 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

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Simpson-Golabi-Behmel Syndrome, Aliases & Descriptions:

Name: Simpson-Golabi-Behmel Syndrome 42 22 21
Sgbs1 42 21
Sgbs 42 21
Simpson-Golabi-Behmel Syndrome, Type 1 62
Mental Retardation-Overgrowth Syndrome 21
Dysplasia Gigantism Syndrome, X-Linked 42
Simpson Dysmorphia Syndrome 42
 
Simpson Dysplasia Syndrome 21
Golabi-Rosen Syndrome 42
Simpson Syndrome 21
Bulldog Syndrome 42
Sdys 21
Dgsx 21


Classifications:



Related Diseases for Simpson-Golabi-Behmel Syndrome

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Diseases in the Simpson-Golabi-Behmel Syndrome Type 1 family:

simpson-golabi-behmel syndrome Simpson-Golabi-Behmel Syndrome, Type 2
Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1

Diseases related to Simpson-Golabi-Behmel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoblastoma31.3GPC3, IGF2
2beckwith-wiedemann syndrome30.5GPC3, IGF2, IGF2R
3simpson-golabi-behmel syndrome type 111.0
4simpson-golabi-behmel syndrome, type 210.9
5gpc3-related simpson-golabi-behmel syndrome type 110.6
6gpc4-related simpson-golabi-behmel syndrome type 110.6
7craniosynostosis10.5
8hepatocellular carcinoma10.5
9sotos syndrome10.5
10cleft palate10.5
11choledochal cyst10.5
12carotid artery dissection10.5
13hypospadias10.5
14congenital diaphragmatic hernia10.5
15laryngitis10.5
16medulloblastoma10.5
17prostatitis10.5
18diffuse neonatal hemangiomatosis10.5
19hydrops fetalis10.5
20mental retardation10.5
21renal dysplasia10.5
22blepharophimosis intellectual disability syndromes10.4
23ohdo syndrome, say-barber-biesecker-young-simpson variant10.4
24blepharophimosis10.2
25hypothyroidism10.2
26gigantism10.2
27seminoma10.1IGF2, GPC3
28schizophrenia10.1
29insulin resistance10.1DPP4, IGF2
30hiv-110.1
31hypoxia10.1
32wilms tumor10.1IGF2, GPC3
33hypoglycemia10.0DPP4, IGF2
34colon adenocarcinoma10.0DPP4, IGF2
35liver cirrhosis10.0DPP4, GPC3
36choriocarcinoma9.9GPC3, IGF2
37colorectal cancer9.8IGF2R, IGF2, GPC3
38hepatitis9.8DPP4, GPC3, IGF2R
39hyperinsulinism9.7DPP4, IGF2, IGF2R
40colonic benign neoplasm9.7IGF2R, IGF2, DPP4
41lung cancer9.7IGF2R, IGF2, DPP4
42prostate cancer9.6DPP4, IGF2, IGF2R
43liver cancer9.6IGF2R, IGF2, GPC3, DPP4

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome:



Diseases related to simpson-golabi-behmel syndrome

Symptoms for Simpson-Golabi-Behmel Syndrome

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Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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Drug clinical trials:

Search ClinicalTrials for Simpson-Golabi-Behmel Syndrome

Search NIH Clinical Center for Simpson-Golabi-Behmel Syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

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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

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

32
Heart, Bone, Liver, Prostate, Tongue

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

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MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5OFD1, GPC3, IGF2, IGF2R
2MP:00053828.5IGF2R, IGF2, GPC3, OFD1
3MP:00053678.4IGF2R, IGF2, GPC3, OFD1
4MP:00053888.4OFD1, GPC3, IGF2, IGF2R
5MP:00053908.3OFD1, GPC3, IGF2, IGF2R
6MP:00053808.3IGF2R, IGF2, GPC3, OFD1
7MP:00053848.3OFD1, GPC3, IGF2, IGF2R
8MP:00053858.2IGF2R, IGF2, GPC3, OFD1
9MP:00053977.9IGF2R, IGF2, GPC3, GPC4
10MP:00053787.8IGF2R, IGF2, GPC3, DPP4, OFD1

Publications for Simpson-Golabi-Behmel Syndrome

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Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50)    (show all 70)
idTitleAuthorsYear
1
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. (25245233)
2014
2
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. (25073799)
2014
3
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. (24459012)
2014
4
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. (24214682)
2014
5
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. (24169032)
2013
6
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. (24357529)
2013
7
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. (23463737)
2013
8
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
9
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (24166811)
2013
10
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
11
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
12
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
13
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
14
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. (20950395)
2011
15
Simpson-Golabi-Behmel syndrome associated with cleft palate. (21959466)
2011
16
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. (21434539)
2010
17
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (20683991)
2010
18
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (21082656)
2010
19
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. (19842194)
2009
20
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. (19372699)
2009
21
A patient with the Simpson-Golabi-Behmel syndrome displays a loss-of-function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface. (19215053)
2009
22
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. (19590577)
2009
23
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. (18619000)
2008
24
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. (18203194)
2008
25
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (17549790)
2007
26
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. (16458828)
2006
27
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
28
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. (16158429)
2005
29
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)
2005
30
Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)
2003
31
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)
2003
32
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. (12713262)
2003
33
Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report. (11967762)
2002
34
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)
2001
35
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
36
Choledochal cyst in Simpson-Golabi-Behmel syndrome. (10564884)
1999
37
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. (10232747)
1999
38
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. (9950367)
1999
39
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. (9853964)
1998
40
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. (9781908)
1998
41
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. (9389646)
1997
42
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (9192268)
1997
43
A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings. (7794515)
1995
44
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)
1994
45
Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. (7520583)
1994
46
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)
1994
47
Simpson-Golabi-Behmel Syndrome Type 1 (20301398)
1993
48
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. (1456279)
1992
49
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. (3177456)
1988
50
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (3177455)
1988

Variations for Simpson-Golabi-Behmel Syndrome

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Clinvar genetic disease variations for Simpson-Golabi-Behmel Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1GPC3NM_004484.3(GPC3): c.886T> A (p.Trp296Arg)single nucleotide variantPathogenicrs104894854GRCh37Chr X, 132887655: 132887655
2GPC3NM_004484.3(GPC3): c.595C> T (p.Arg199Ter)single nucleotide variantPathogenicrs104894855GRCh37Chr X, 132887946: 132887946
3GPC3NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter)single nucleotide variantPathogenicrs122453121GRCh37Chr X, 132833930: 132833930
4GPC3NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg)single nucleotide variantPathogenicrs267606850GRCh37Chr X, 132670229: 132670229

Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Expression patterns in normal tissues for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Pathways for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Compounds for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Sources:
44Novoseek, 24HMDB
See all sources

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1diethylnitrosamine449.8IGF2, GPC3
25-aza-2deoxycytidine449.5GPC3, IGF2
3c-peptide449.5IGF2, DPP4
4proliferin449.4IGF2, IGF2R
5perillyl alcohol44 2410.3IGF2R, IGF2
6valine449.3DPP4, IGF2
7mannose449.2IGF2, IGF2R
8heparan sulfate44 2410.0IGF2R, GPC3, GPC4
9mannose 6-phosphate44 249.8DPP4, IGF2, IGF2R
10glycogen44 249.7DPP4, IGF2, IGF2R
11retinoic acid44 249.6DPP4, IGF2, IGF2R
12cysteine448.4IGF2R, IGF2, DPP4
13glucose448.2DPP4, IGF2, IGF2R

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

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Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.4GPC3, GPC4
2Golgi lumenGO:0057969.2GPC4, GPC3
3endocytic vesicleGO:0301399.0DPP4, IGF2R
4integral component of plasma membraneGO:0058878.7GPC4, GPC3, IGF2R
5extracellular spaceGO:0056158.3GPC4, GPC3, IGF2, IGF2R

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

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

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

idNameGO IDScoreTop Affiliating Genes
1heparan sulfate proteoglycan bindingGO:0433959.2GPC4, GPC3
2protein bindingGO:0055157.6OFD1, DPP4, GPC3, IGF2, IGF2R

Products for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Sources for Simpson-Golabi-Behmel 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet