MCID: SMP003
MIFTS: 46

Simpson-Golabi-Behmel Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

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Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 11 46 24 13 25 37
Simpson Dysmorphia Syndrome 11 46
Golabi-Rosen Syndrome 11 46
Bulldog Syndrome 11 46
Sgbs1 46 24
Sgbs 46 24
Mental Retardation-Overgrowth Syndrome 24
Dysplasia Gigantism Syndrome, X-Linked 46
 
X-Linked Dysplasia Gigantism Syndrome 11
Dgsx Golabi-Rosen Syndrome 11
Simpson Dysplasia Syndrome 24
Sara Angers Syndrome 11
Simpson Syndrome 24
Sgb Syndrome 11
Sdys 24
Dgsx 24

Classifications:



External Ids:

Disease Ontology11 DOID:0060248
MeSH37 C537340
SNOMED-CT60 439143004
NCIt43 C118787
UMLS66 C0796154

Summaries for Simpson-Golabi-Behmel Syndrome

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NIH Rare Diseases:46 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 simpson dysmorphia syndrome, is related to simpson-golabi-behmel syndrome, type 2 and simpson-golabi-behmel syndrome, type 1. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways are Incretin synthesis, secretion, and inactivation and Proteoglycans in cancer. Affiliated tissues include heart, tongue and prostate.

Disease Ontology:11 An x-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference:24 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.

Related Diseases for Simpson-Golabi-Behmel Syndrome

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Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 Simpson-Golabi-Behmel Syndrome, Type 1
Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1
Ofd1-Related Simpson-Golabi-Behmel Syndrome Type 2 Piga-Related Simpson-Golabi-Behmel Syndrome Type 2

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1simpson-golabi-behmel syndrome, type 212.9
2simpson-golabi-behmel syndrome, type 112.9
3gpc3-related simpson-golabi-behmel syndrome type 112.5
4gpc4-related simpson-golabi-behmel syndrome type 112.5
5ofd1-related simpson-golabi-behmel syndrome type 212.5
6piga-related simpson-golabi-behmel syndrome type 212.5
7sbbyss syndrome11.5
8blepharophimosis intellectual disability syndromes11.5
9hepatoblastoma11.2
10blepharophimosis-intellectual disability syndrome, sbbys type11.1
11say-barber-biesecker variant of ohdo syndrome11.1
12medulloblastoma10.4
13hepatocellular carcinoma10.4
14beckwith-wiedemann syndrome10.4
15total anomalous pulmonary venous return10.4
16craniosynostosis10.4
17hypospadias10.4
18synostosis10.4
19prostatitis10.4
20laryngitis10.4
21congenital diaphragmatic hernia10.4
22choledochal cyst10.4
23carotid artery dissection10.4
24diffuse neonatal hemangiomatosis10.4
25hydrops fetalis10.4
26renal dysplasia10.4
27myeloproliferative neoplasms, familial10.3GPC3, GPC4
28immunodeficiency, x-linked, with hyper-igm10.2GPC3, GPC4
29nasal cavity adenocarcinoma10.1CTNNB1, GPC3
30emerinopathy10.0CTNNB1, GPC3
31blepharophimosis9.9
32hypothyroidism9.9
33gigantism9.9
34perlman syndrome9.9GPC1, GPC3, GPC4
35spinal cord primitive neuroectodermal neoplasm9.8CTNNB1, GPC3
36genitopatellar syndrome9.8
37x-linked chondrodysplasia punctata9.8GPC1, GPC3, GPC6
38bipolar ll disorder9.7GPC1, GPC3, GPC6
39idiopathic scoliosis6.5CTNNB1, DPP4, GPC1, GPC3, GPC4, GPC5

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Simpson-Golabi-Behmel Syndrome


Cochrane evidence based reviews: 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 Syndrome25

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

34
Heart, Tongue, Prostate, Liver, Bone

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

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Publications for Simpson-Golabi-Behmel Syndrome

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Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50)    (show all 80)
idTitleAuthorsYear
1
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. (26742178)
2016
2
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. (26692054)
2016
3
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. (26847959)
2016
4
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. (26915941)
2016
5
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. (26545172)
2015
6
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. (25073799)
2014
7
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. (24459012)
2014
8
Simpson-golabi-behmel syndrome types I and II. (25238977)
2014
9
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. (25804025)
2014
10
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. (25245233)
2014
11
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. (24357529)
2013
12
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
13
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
14
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
15
Simpson-Golabi-Behmel syndrome associated with cleft palate. (21959466)
2011
16
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
17
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. (21434539)
2010
18
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. (19842194)
2009
19
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
20
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. (19590577)
2009
21
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. (19631996)
2009
22
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. (19681434)
2009
23
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. (18203194)
2008
24
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (17549790)
2007
25
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
26
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)
2005
27
Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)
2003
28
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)
2003
29
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. (12713262)
2003
30
Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report. (11967762)
2002
31
Overgrowth of a mouse model of the Simpson-Golabi-Behmel syndrome is independent of IGF signaling. (11846487)
2002
32
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)
2001
33
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition. (11286501)
2001
34
Multiple odontogenic keratocysts in mental retardation-overgrowth (Simpson-Golabi-Behmel) syndrome. (10864729)
2000
35
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. (10232747)
1999
36
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. (9950367)
1999
37
Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. (10402475)
1999
38
Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome. (10441586)
1999
39
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome. (10496077)
1999
40
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. (9853964)
1998
41
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
42
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (9192268)
1997
43
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. (8599356)
1995
44
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)
1994
45
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)
1994
46
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. (8209924)
1994
47
Simpson-Golabi-Behmel Syndrome Type 1 (20301398)
1993
48
Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. (8322824)
1993
49
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. (1605222)
1992
50
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. (3177456)
1988

Variations for Simpson-Golabi-Behmel Syndrome

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Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

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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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Pathways related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7CTNNB1, DPP4
29.3CTNNB1, GPC1, GPC3
3
Show member pathways
8.7CTNNB1, GPC1, GPC3, GPC5
4
Show member pathways
8.2GPC1, GPC3, GPC4, GPC5, GPC6
5
Show member pathways
8.2GPC1, GPC3, GPC4, GPC5, GPC6
6
Show member pathways
8.2GPC1, GPC3, GPC4, GPC5, GPC6
7
Show member pathways
8.2GPC1, GPC3, GPC4, GPC5, GPC6
8
Show member pathways
8.2GPC1, GPC3, GPC4, GPC5, GPC6
9
Show member pathways
8.2CTNNB1, GPC1, GPC3, GPC5, GPC6
10
Show member pathways
8.2CTNNB1, GPC1, GPC3, GPC5, GPC6
11
Show member pathways
7.9CTNNB1, GPC1, GPC3, GPC4, GPC5, GPC6

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anchored component of membraneGO:00312258.8GPC1, GPC4, GPC5, GPC6
2lysosomal lumenGO:00432028.7GPC1, GPC3, GPC4, GPC5, GPC6
3Golgi lumenGO:00057968.7GPC1, GPC3, GPC4, GPC5, GPC6
4proteinaceous extracellular matrixGO:00055788.6GPC1, GPC3, GPC4, GPC5, GPC6
5extracellular spaceGO:00056158.5GPC1, GPC3, GPC4, GPC5, GPC6
6integral component of plasma membraneGO:00058878.2GPC1, GPC3, GPC4, GPC5, GPC6
7plasma membraneGO:00058866.3CTNNB1, DPP4, GPC1, GPC3, GPC4, GPC5

Biological processes related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1embryonic hindlimb morphogenesisGO:003511610.0CTNNB1, GPC3
2anterior/posterior axis specificationGO:000994810.0CTNNB1, GPC3
3osteoclast differentiationGO:00303169.8CTNNB1, GPC3
4branching involved in ureteric bud morphogenesisGO:00016589.8CTNNB1, GPC3
5lipid transportGO:00068699.4OSBPL2, OSBPL3
6glycosaminoglycan catabolic processGO:00060278.8GPC1, GPC3, GPC4, GPC5, GPC6
7glycosaminoglycan biosynthetic processGO:00060248.7GPC1, GPC3, GPC4, GPC5, GPC6
8retinoid metabolic processGO:00015238.1GPC1, GPC3, GPC4, GPC5, GPC6
9glycosaminoglycan metabolic processGO:00302037.9GPC1, GPC3, GPC4, GPC5, GPC6

Molecular functions related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathwayGO:190492910.0GPC4, GPC6
2cholesterol bindingGO:00154858.8OSBPL2, OSBPL3
3heparan sulfate proteoglycan bindingGO:00433958.2GPC1, GPC3, GPC4, GPC5, GPC6

Sources for Simpson-Golabi-Behmel Syndrome

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2CDC
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28ICD10
29ICD10 via Orphanet
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32KEGG
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37MeSH
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51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet