MCID: SMP003
MIFTS: 51

Simpson-Golabi-Behmel Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Cancer diseases, Mental diseases categories

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 10 45 23 12 51 24 36
Simpson Dysmorphia Syndrome 10 45 51
Golabi-Rosen Syndrome 10 45 51
Sgbs1 45 23 51
Sgbs 45 23 51
X-Linked Dysplasia Gigantism Syndrome 10 51
Bulldog Syndrome 10 45
Sdys 23 51
Dgsx 23 51
 
Dysplasia Gigantism Syndrome, X-Linked 45
Mental Retardation-Overgrowth Syndrome 23
Simpson-Golabi-Behmel Syndrome Type 1 51
Simpson Dysplasia Syndrome 23
Dgsx Golabi-Rosen Syndrome 10
Sara Angers Syndrome 10
Simpson Syndrome 23
Sgb Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
simpson-golabi-behmel syndrome:
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal


External Ids:

Disease Ontology10 DOID:0060248
MeSH36 C537340
ICD9CM29 759.89
Orphanet51 373
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 C537340

Summaries for Simpson-Golabi-Behmel Syndrome

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NIH Rare Diseases:45 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 blepharophimosis-intellectual disability syndrome, sbbys type and simpson-golabi-behmel syndrome, type 2, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, coarse face and hypertelorism. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways are Non-Canonical Wnt Pathway and Proteoglycans in cancer. Affiliated tissues include heart, spleen and testes.

Disease Ontology:10 An x-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference:23 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

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis-intellectual disability syndrome, sbbys type30.7GPC1, GPC3, GPC6
2simpson-golabi-behmel syndrome, type 211.1
3simpson-golabi-behmel syndrome, type 111.1
4gpc3-related simpson-golabi-behmel syndrome type 110.8
5gpc4-related simpson-golabi-behmel syndrome type 110.8
6hepatoblastoma10.7
7medulloblastoma10.5
8hepatocellular carcinoma10.5
9beckwith-wiedemann syndrome10.5
10total anomalous pulmonary venous return10.5
11craniosynostosis10.5
12congenital diaphragmatic hernia10.5
13carotid artery dissection10.5
14hypospadias10.5
15choledochal cyst10.5
16laryngitis10.5
17prostatitis10.5
18synostosis10.5
19diffuse neonatal hemangiomatosis10.5
20hydrops fetalis10.5
21renal dysplasia10.5
22gigantism10.5
23blepharophimosis intellectual disability syndromes10.4
24sbbyss syndrome10.3
25mental retardation, x-linked 4210.2GPC3, GPC4
26blepharophimosis10.2
27hypothyroidism10.2
28say-barber-biesecker variant of ohdo syndrome10.2
29scapuloperoneal syndrome, myopathic type10.2GPC3, GPC4
30embryonal tumor with multilayered rosettes10.2CTNNB1, GPC3
31perlman syndrome10.2DIS3L2, GPC3
32bipolar ll disorder10.1GPC1, GPC6
33schizophrenia10.1
34gallbladder leiomyosarcoma10.1CTNNB1, GPC3
35sotos syndrome 110.1DIS3L2, GPC3
36hiv-110.1
37breast cancer10.1
38major depressive disorder and accelerated response to antidepressant drug treatment10.1
39female breast carcinoma10.1
40anxiety disorder10.1
41central nervous system cancer10.1
42mental depression10.1
43nervous system cancer10.1
44peripheral nervous system neoplasm10.1
45hypoxia10.1
46ophthalmomyiasis10.0CTNNB1, IGF2
47non-gestational choriocarcinoma9.9CTNNB1, IGF2
48pneumatosis cystoides intestinalis9.9CTNNB1, IGF2
49hereditary choroidal atrophy9.9CTNNB1, GPC3, IGF2
50endodermal sinus tumor9.8DPP4, IGF2

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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Symptoms:

 51 (show all 72)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • coarse face
  • hypertelorism
  • prognathism/prognathia
  • macrostomia/big mouth
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • supernumerary nipples/polythelia
  • anomalies of the ribs
  • abnormal vertebral size/shape
  • postaxial polydactyly (hand)
  • short foot/brachydactyly of toes
  • broad foot
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • multicystic kidney/renal dysplasia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • x-linked recessive inheritance
  • tall stature/gigantism/growth acceleration
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • broad nose/nasal bridge
  • short/small nose
  • anteverted nares/nostrils
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • short neck
  • webbed neck/pterygium colli
  • pectus excavatum
  • scoliosis
  • omphalocele/exomphalos
  • absent/hypotonic/flaccid abdominal wall muscles
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • broad/bifid thumb
  • syndactyly of toes
  • thin/hypoplastic/hyperconvex fingernails
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypoglycemia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • stillbirth/neonatal death
  • death in infancy
  • polyhydramnios
  • epicanthic folds
  • cleft lip
  • talipes-varus/metatarsal varus
  • structural anomalies of the pancreas
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • diaphragmatic hernia/defect/agenesis
  • abnormal cry/voice/phonation disorder/nasal speech
  • cardiomyopathy/hypertrophic/dilated
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • dandy-walker anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • advanced bone age
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • neoplasms/tumors
  • hepatoblastoma
  • nephroblastoma/wilms tumor
  • neuroblastoma

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 Syndrome24

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

33
Heart, Spleen, Testes, Tongue, Liver, Bone, Pancreas

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 71)
idTitleAuthorsYear
1
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. (26545172)
2015
2
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. (25245233)
2014
3
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. (25073799)
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
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. (18619000)
2008
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
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. (16458828)
2006
26
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
27
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. (16158429)
2005
28
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)
2005
29
Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)
2003
30
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)
2003
31
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. (12713262)
2003
32
Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report. (11967762)
2002
33
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)
2001
34
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
35
Choledochal cyst in Simpson-Golabi-Behmel syndrome. (10564884)
1999
36
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. (10232747)
1999
37
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. (9950367)
1999
38
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. (9853964)
1998
39
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. (9781908)
1998
40
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
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GPC3GPC3, 13-BP DEL, NT391deletionPathogenic
2GPC3GPC3, EX7DELdeletionPathogenic
3GPC3NM_004484.3(GPC3): c.886T> A (p.Trp296Arg)single nucleotide variantPathogenicrs104894854GRCh37Chr X, 132887655: 132887655
4GPC3GPC3, IVS5, G-T, +1single nucleotide variantPathogenic
5GPC3NM_004484.3(GPC3): c.595C> T (p.Arg199Ter)single nucleotide variantPathogenicrs104894855GRCh37Chr X, 132887946: 132887946
6GPC3GPC3, EX6DELdeletionPathogenic
7GPC3GPC3, IVS2, G-A, +1single nucleotide variantPathogenic
8GPC3NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter)single nucleotide variantPathogenicrs122453121GRCh37Chr X, 132833930: 132833930
9GPC3NM_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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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:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1CTNNB1, GPC1, GPC3, GPC5
28.8CTNNB1, GPC1, GPC3, IGF2
3
Show member pathways
8.7GPC1, GPC3, GPC4, GPC5, GPC6
4
Show member pathways
8.7GPC1, GPC3, GPC4, GPC5, GPC6
5
Show member pathways
8.7GPC1, GPC3, GPC4, GPC5, GPC6
6
Show member pathways
8.7GPC1, GPC3, GPC4, GPC5, GPC6
7
Show member pathways
8.7CTNNB1, GPC1, GPC3, GPC5, GPC6
8
Show member pathways
8.4CTNNB1, GPC1, GPC3, GPC4, GPC5, GPC6
9
Wnt signaling pathway (KEGG)
Show member pathways
8.4CTNNB1, 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
1lysosomal lumenGO:00432029.3GPC1, GPC3, GPC4, GPC5, GPC6
2Golgi lumenGO:00057969.2GPC1, GPC3, GPC4, GPC5, GPC6
3anchored component of membraneGO:00312259.1GPC1, GPC3, GPC4, GPC5, GPC6
4proteinaceous extracellular matrixGO:00055789.0GPC1, GPC3, GPC4, GPC5, GPC6
5extracellular exosomeGO:00700627.6CTNNB1, DPP4, FABP4, GPC1, GPC3, GPC4
6extracellular spaceGO:00056157.6GPC1, GPC3, GPC4, GPC5, GPC6, IGF2
7membraneGO:00160207.4CTNNB1, DPP4, GPC1, GPC3, GPC4, GPC5
8plasma membraneGO:00058866.7CTNNB1, DPP4, GPC1, GPC3, GPC4, GPC5

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1anterior/posterior axis specificationGO:000994810.5CTNNB1, GPC3
2embryonic hindlimb morphogenesisGO:003511610.4CTNNB1, GPC3
3branching involved in ureteric bud morphogenesisGO:000165810.4CTNNB1, GPC3
4osteoclast differentiationGO:003031610.4CTNNB1, GPC3
5glycosaminoglycan catabolic processGO:00060279.3GPC1, GPC3, GPC4, GPC5, GPC6
6glycosaminoglycan biosynthetic processGO:00060249.3GPC1, GPC3, GPC4, GPC5, GPC6
7retinoid metabolic processGO:00015239.0GPC1, GPC3, GPC4, GPC5, GPC6
8phototransduction, visible lightGO:00076039.0GPC1, GPC3, GPC4, GPC5, GPC6
9carbohydrate metabolic processGO:00059758.9GPC1, GPC3, GPC4, GPC5, GPC6
10glycosaminoglycan metabolic processGO:00302038.9GPC1, GPC3, GPC4, GPC5, GPC6
11chondroitin sulfate metabolic processGO:00302048.9GPC1, GPC3, GPC4, GPC5, GPC6
12small molecule metabolic processGO:00442818.2FABP4, GPC1, GPC3, GPC4, GPC5, GPC6

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.4OSBPL2, OSBPL3
2heparan sulfate proteoglycan bindingGO:00433958.9GPC1, GPC3, GPC4, GPC5, GPC6

Sources for Simpson-Golabi-Behmel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet