Simpson-Golabi-Behmel Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Simpson-Golabi-Behmel Syndrome

Sources:
²²Genetics Home Reference, ⁴²NIH Rare Diseases, ³²MalaCards
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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:²² 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:
⁴²NIH Rare Diseases, ²³GTR, ²²Genetics Home Reference, ⁶¹UMLS
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Simpson-Golabi-Behmel Syndrome, Aliases & Descriptions:

Name: Simpson-Golabi-Behmel Syndrome ⁴² ²³ ²²

Sgbs1 ⁴² ²²

Sgbs ⁴² ²²

Simpson-Golabi-Behmel Syndrome, Type 1 ⁶¹

Mental Retardation-Overgrowth Syndrome ²²

Dysplasia Gigantism Syndrome, X-Linked ⁴²

Simpson Dysmorphia Syndrome ⁴²

Simpson Dysplasia Syndrome ²²

Golabi-Rosen Syndrome ⁴²

Simpson Syndrome ²²

Bulldog Syndrome ⁴²

Sdys ²²

Dgsx ²²

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases, Cancer diseases
Anatomical: Neuronal diseases, Mental diseases, Nephrological diseases

Related Diseases for Simpson-Golabi-Behmel Syndrome

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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)

id	Related Disease	Score	Top Affiliating Genes
1	hepatoblastoma	31.3	IGF2, GPC3
2	beckwith-wiedemann syndrome	30.5	IGF2, GPC3, IGF2R
3	simpson-golabi-behmel syndrome type 1	11.0
4	simpson-golabi-behmel syndrome, type 2	10.9
5	gpc3-related simpson-golabi-behmel syndrome type 1	10.6
6	gpc4-related simpson-golabi-behmel syndrome type 1	10.6
7	craniosynostosis	10.5
8	hepatocellular carcinoma	10.5
9	sotos syndrome	10.5
10	cleft palate	10.5
11	choledochal cyst	10.5
12	carotid artery dissection	10.5
13	hypospadias	10.5
14	congenital diaphragmatic hernia	10.5
15	laryngitis	10.5
16	medulloblastoma	10.5
17	prostatitis	10.5
18	diffuse neonatal hemangiomatosis	10.5
19	hydrops fetalis	10.5
20	mental retardation	10.5
21	renal dysplasia	10.5
22	blepharophimosis intellectual disability syndromes	10.4
23	ohdo syndrome, say-barber-biesecker-young-simpson variant	10.4
24	blepharophimosis	10.2
25	hypothyroidism	10.2
26	gigantism	10.2
27	seminoma	10.1	GPC3, IGF2
28	schizophrenia	10.1
29	insulin resistance	10.1	IGF2, DPP4
30	hiv-1	10.1
31	hypoxia	10.1
32	wilms tumor	10.1	IGF2, GPC3
33	hypoglycemia	10.0	IGF2, DPP4
34	colon adenocarcinoma	10.0	DPP4, IGF2
35	liver cirrhosis	10.0	GPC3, DPP4
36	choriocarcinoma	9.9	GPC3, IGF2
37	colorectal cancer	9.8	GPC3, IGF2, IGF2R
38	hepatitis	9.8	GPC3, IGF2R, DPP4
39	hyperinsulinism	9.7	DPP4, IGF2, IGF2R
40	colonic benign neoplasm	9.7	IGF2, IGF2R, DPP4
41	lung cancer	9.7	DPP4, IGF2, IGF2R
42	prostate cancer	9.6	DPP4, IGF2R, IGF2
43	liver cancer	9.6	IGF2R, IGF2, GPC3, DPP4

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

Symptoms for Simpson-Golabi-Behmel Syndrome

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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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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²³GTR
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Genetic tests related to Simpson-Golabi-Behmel Syndrome:

id	Genetic test	Affiliating Genes
1	Simpson-Golabi-Behmel Syndrome²³

Anatomical Context for Simpson-Golabi-Behmel Syndrome

Sources:
³²MalaCards
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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

Sources:
³⁶MGI
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MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	limbs/digits/tail phenotype	MP:0005371	8.5	OFD1, GPC3, IGF2, IGF2R
2	craniofacial phenotype	MP:0005382	8.5	IGF2R, IGF2, GPC3, OFD1
3	renal/urinary system phenotype	MP:0005367	8.4	IGF2R, IGF2, GPC3, OFD1
4	respiratory system phenotype	MP:0005388	8.4	OFD1, GPC3, IGF2, IGF2R
5	skeleton phenotype	MP:0005390	8.3	OFD1, GPC3, IGF2, IGF2R
6	embryogenesis phenotype	MP:0005380	8.3	IGF2R, IGF2, GPC3, OFD1
7	cellular phenotype	MP:0005384	8.3	OFD1, GPC3, IGF2, IGF2R
8	cardiovascular system phenotype	MP:0005385	8.2	IGF2R, IGF2, GPC3, OFD1
9	hematopoietic system phenotype	MP:0005397	7.9	IGF2R, IGF2, GPC3, GPC4
10	growth/size/body phenotype	MP:0005378	7.8	IGF2R, IGF2, GPC3, DPP4, OFD1

Publications for Simpson-Golabi-Behmel Syndrome

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

(show top 50) (show all 70)

id	Title	Authors	Year
1	Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. (25245233)	Bayram M.... Seymen F.	2014
2	Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. (25073799)	Agatep R.... Stockley T.L.	2014
3	Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. (24459012)	Kosaki R.... Kosaki K.	2014
4	Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. (24214682)	Cottereau E.... Toutain A.	2014
5	Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. (24169032)	Ochiai D.... Fukuiya T.	2013
6	A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. (24357529)	Jedraszak G.... Demeer B.	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)	Mateos M.E.... Matas J.	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)	Villarreal D.D.... Powers G.C.	2013
9	Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (24166811)	Neri G.... Opitz J.M.	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)	Cottereau E.... Toutain A.	2013
11	Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)	Chen C.P.	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)	Garavelli L.... Neri G.	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)	Weichert J.... Hellenbroich Y.	2011
14	Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. (20950395)	Yano S.... Ray P.N.	2011
15	Simpson-Golabi-Behmel syndrome associated with cleft palate. (21959466)	Morita Y.... Morita N.	2011
16	Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. (21434539)	Ratbi I.... Sefiani A.	2010
17	Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (20683991)	Gertsch E.... Babovic-Vuksanovic D.	2010
18	Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (21082656)	Waterson J.... Golabi M.	2010
19	Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. (19842194)	Griffith C.B.... Vance G.H.	2009
20	Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. (19372699)	Li C.C.... McDonald S.D.	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)	Shi W.... Filmus J.	2009
22	Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. (19590577)	Capurro M.I.... Filmus J.	2009
23	Speech and language in Simpson-Golabi-Behmel syndrome: a case report. (18619000)	Van Borsel J.... Van Lierde K.	2008
24	Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. (18203194)	PAcnisson-Besnier I.... Bonneau D.	2008
25	The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (17549790)	Davoodi J.... MacKenzie A.E.	2007
26	Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. (16458828)	Young E.L.... Nigro M.A.	2006
27	Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)	Buonuomo P.S.... Zampino G.	2005
28	Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. (16158429)	RodrA-guez-Criado G.... Lapunzina P.	2005
29	Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)	Day R.... Fryer A.	2005
30	Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)	Taniyama T.... Takada K.	2003
31	The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)	Paludetti G.... Rigante M.	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)	Mariani S.... Bernasconi S.	2003
33	Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report. (11967762)	Poetke M.... Berlien H.P.	2002
34	GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)	Li M.... Weksberg R.	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)	Veugelers M.... David G.	2000
36	Choledochal cyst in Simpson-Golabi-Behmel syndrome. (10564884)	Kim S.... Chen E.	1999
37	Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. (10232747)	Lin A.E.... Weksberg R.	1999
38	A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. (9950367)	Xuan J.Y.... MacKenzie A.E.	1999
39	Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. (9853964)	Pellegrini M.... Forabosco A.	1998
40	Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. (9781908)	Neri G.... Lin A.	1998
41	Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. (9389646)	Eggenschwiler J.... Efstratiadis A.	1997
42	Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (9192268)	Lindsay S.... Pilia G.	1997
43	A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings. (7794515)	Yamashita H.... Yamabe T.	1995
44	Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)	Xuan J.Y.... MacKenzie A.E.	1994
45	Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. (7520583)	Hughes-Benzie R.M.... Patrick A.	1994
46	Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)	Punnett H.H.	1994
47	Simpson-Golabi-Behmel Syndrome Type 1 (20301398)	Pagon R.A.... Stephens K.	1993
48	Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. (1456279)	Garganta C.L.... Bodurtha J.N.	1992
49	Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. (3177456)	Opitz J.M.... Matalon R.	1988
50	Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (3177455)	Neri G.... Opitz J.M.	1988

Genes related to Simpson-Golabi-Behmel Syndrome

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁷Clinvar
See all sources

Genes related to Simpson-Golabi-Behmel Syndrome:

- Elite gene

id	Symbol	Description	Score	Implication
1	GPC3	glypican 3	22.38	Pathogenic ⁷ GeneCards inferred via : Publications, Disorders, Summaries (show sections)
2	OFD1	oral-facial-digital syndrome 1	19.01	GeneCards inferred via : Disorders, Publications, Summaries (show sections)
3	GPC4	glypican 4	15.67	GeneCards inferred via : Publications, Summaries (show sections)
4	DPP4	dipeptidyl-peptidase 4	11.98	GeneCards inferred via : Publications (show sections)
5	IGF2R	insulin-like growth factor 2 receptor	8.65	GeneCards inferred via : Publications (show sections)
6	IGF2	insulin-like growth factor 2 (somatomedin A)	5.31	GeneCards inferred via : Publications (show sections)

Products for genes related to Simpson-Golabi-Behmel Syndrome disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	6	-	6	6
2	Novus Biologicals	5	4	6	-

Variations for Simpson-Golabi-Behmel Syndrome

Sources:
⁷Clinvar
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Clinvar genetic disease variations for Simpson-Golabi-Behmel Syndrome:

⁷

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1	GPC3	NM_004484.3(GPC3): c.886T> A (p.Trp296Arg)	single nucleotide variant	Pathogenic	rs104894854	GRCh37	Chr X, 132887655: 132887655
2	GPC3	NM_004484.3(GPC3): c.595C> T (p.Arg199Ter)	single nucleotide variant	Pathogenic	rs104894855	GRCh37	Chr X, 132887946: 132887946
3	GPC3	NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter)	single nucleotide variant	Pathogenic	rs122453121	GRCh37	Chr X, 132833930: 132833930
4	GPC3	NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg)	single nucleotide variant	Pathogenic	rs267606850	GRCh37	Chr X, 132670229: 132670229

Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

Sources:
²BioGPS, ¹⁶Gene 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

Sources:
⁴⁹PathCards, ⁵⁴Reactome, ³⁷NCBI BioSystems Database, ³⁰KEGG
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Pathways related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Diseases associated with visual transduction⁵⁴ Show member pathways Retinoid metabolism and transport⁵⁴ Biosynthesis of A2E, implicated in retinal degradation⁵⁴ The retinoid cycle in cones (daylight vision)⁵⁴ Visual phototransduction⁵⁴ Retinoid cycle disease events⁵⁴	9.5	GPC4, GPC3
2	Heparan sulfate/heparin (HS-GAG) metabolism⁵⁴ Show member pathways HS-GAG biosynthesis⁵⁴ HS-GAG degradation⁵⁴ Glypican pathway³⁷	9.5	GPC4, GPC3
3	Chondroitin sulfate/dermatan sulfate metabolism⁵⁴ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis⁵⁴ CS/DS degradation⁵⁴ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate³⁰ Chondroitin sulfate biosynthesis⁵⁴ Dermatan sulfate biosynthesis⁵⁴	9.5	GPC4, GPC3

Compounds for genes affiliated with Simpson-Golabi-Behmel Syndrome

Sources:
⁴⁴Novoseek, ²⁵HMDB
See all sources

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

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	diethylnitrosamine⁴⁴	9.8	IGF2, GPC3
2	5-aza-2deoxycytidine⁴⁴	9.5	GPC3, IGF2
3	c-peptide⁴⁴	9.5	IGF2, DPP4
4	proliferin⁴⁴	9.4	IGF2, IGF2R
5	perillyl alcohol⁴⁴ ²⁵	10.3	IGF2R, IGF2
6	valine⁴⁴	9.3	DPP4, IGF2
7	mannose⁴⁴	9.2	IGF2, IGF2R
8	heparan sulfate⁴⁴ ²⁵	10.0	IGF2R, GPC3, GPC4
9	mannose 6-phosphate⁴⁴ ²⁵	9.8	DPP4, IGF2, IGF2R
10	glycogen⁴⁴ ²⁵	9.7	DPP4, IGF2, IGF2R
11	retinoic acid⁴⁴ ²⁵	9.6	DPP4, IGF2, IGF2R
12	cysteine⁴⁴	8.4	IGF2R, IGF2, DPP4
13	glucose⁴⁴	8.2	DPP4, IGF2, IGF2R

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

Sources:
¹⁷Gene Ontology
See all sources

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

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen	GO:043202	9.4	GPC4, GPC3
2	Golgi lumen	GO:005796	9.2	GPC3, GPC4
3	endocytic vesicle	GO:030139	9.0	IGF2R, DPP4
4	integral component of plasma membrane	GO:005887	8.7	GPC3, IGF2R, GPC4
5	extracellular space	GO:005615	8.3	GPC4, GPC3, IGF2, IGF2R

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

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosaminoglycan catabolic process	GO:006027	9.7	GPC4, GPC3
2	glycosaminoglycan biosynthetic process	GO:006024	9.7	GPC4, GPC3
3	chondroitin sulfate metabolic process	GO:030204	9.6	GPC4, GPC3
4	retinoid metabolic process	GO:001523	9.5	GPC3, GPC4
5	glycosaminoglycan metabolic process	GO:030203	9.5	GPC4, GPC3
6	phototransduction, visible light	GO:007603	9.4	GPC4, GPC3
7	anatomical structure morphogenesis	GO:009653	9.2	GPC4, GPC3