MCID: SMP003
MIFTS: 48

Simpson-Golabi-Behmel Syndrome malady

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 10 45 23 12 51 36 24
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
Dgsx Golabi-Rosen Syndrome 10
Simpson Dysplasia Syndrome 23
Sara Angers Syndrome 10
Simpson Syndrome 23
Sgb Syndrome 10

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0060248
MeSH36 C537340
Orphanet51 373
SNOMED-CT59 439143004
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 C537340
UMLS65 C0796154

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 simpson-golabi-behmel syndrome, type 2 and simpson-golabi-behmel syndrome, type 1, 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, and related mouse phenotype skeleton.

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 all 43)
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
5sbbyss syndrome11.5
6blepharophimosis intellectual disability syndromes11.4
7hepatoblastoma11.2
8blepharophimosis-intellectual disability syndrome, sbbys type11.2
9say-barber-biesecker variant of ohdo syndrome11.1
10mental retardation, x-linked 4210.5GPC3, GPC4
11medulloblastoma10.4
12hepatocellular carcinoma10.4
13beckwith-wiedemann syndrome10.4
14total anomalous pulmonary venous return10.4
15craniosynostosis10.4
16hypospadias10.4
17synostosis10.4
18prostatitis10.4
19laryngitis10.4
20congenital diaphragmatic hernia10.4
21choledochal cyst10.4
22carotid artery dissection10.4
23diffuse neonatal hemangiomatosis10.4
24hydrops fetalis10.4
25renal dysplasia10.4
26villous adenoma10.3CTNNB1, GPC3
27bicipital tenosynovitis10.2CTNNB1, IGF2
28gigantism10.2
29struma ovarii10.1CTNNB1, IGF2
30ohdo syndrome10.1GPC1, GPC3, GPC6
31pain disorder10.1GPC1, GPC3, GPC6
32colon mucinous adenocarcinoma10.1CTNNB1, IGF2
33hepatic flexure cancer10.0DPP4, IGF2
34spinal cord neuroblastoma10.0CTNNB1, GPC3, IGF2
35large cell neuroendocrine carcinoma9.9CTNNB1, IGF2
36hyperbiliverdinemia9.9CTNNB1, GPC3, IGF2
37blepharophimosis9.9
38hypothyroidism9.9
39hiv-19.9
40hypoxia9.9
41perlman syndrome9.7GPC1, GPC3, GPC4, IGF2
42primary hypertrophic osteoarthropathy9.7DPP4, IGF2
43scoliosis5.8CTNNB1, DPP4, FABP4, GPC1, GPC3, GPC4

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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Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

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

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.8CTNNB1, GPC3, IGF2, MFAP5, OFD1, OSBPL3

Publications for Simpson-Golabi-Behmel Syndrome

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Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50)    (show all 79)
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 recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. (26545172)
2015
5
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. (25245233)
2014
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
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. (24214682)
2014
9
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. (24169032)
2013
10
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. (24357529)
2013
11
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. (23463737)
2013
12
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
13
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. (24166811)
2013
14
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (22795092)
2012
15
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
16
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. (20950395)
2011
17
Simpson-Golabi-Behmel syndrome associated with cleft palate. (21959466)
2011
18
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. (21434539)
2010
19
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (20683991)
2010
20
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (21082656)
2010
21
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. (19842194)
2009
22
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. (19372699)
2009
23
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
24
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. (18619000)
2008
25
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. (18203194)
2008
26
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. (17549790)
2007
27
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. (16458828)
2006
28
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. (16166055)
2005
29
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. (16158429)
2005
30
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. (15602092)
2005
31
Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome. (12943430)
2003
32
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. (14550971)
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
A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings. (7794515)
1995
43
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)
1994
44
Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. (7520583)
1994
45
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)
1994
46
Simpson-Golabi-Behmel Syndrome Type 1 (20301398)
1993
47
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. (1456279)
1992
48
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. (3177456)
1988
49
50

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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2CTNNB1, GPC1, GPC3, GPC5
29.1CTNNB1, GPC1, GPC3, IGF2
3
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
4
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
5
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
6
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
7
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
8
Show member pathways
8.8CTNNB1, GPC1, GPC3, GPC5, GPC6
9
Show member pathways
8.8CTNNB1, GPC1, GPC3, GPC5, GPC6
10
Show member pathways
8.5CTNNB1, GPC1, GPC3, GPC4, GPC5, GPC6

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

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

idNameGO IDScoreTop Affiliating Genes
1embryonic hindlimb morphogenesisGO:003511610.1CTNNB1, GPC3
2cellular response to lithium ionGO:00712859.9CTNNB1, FABP4
3cellular response to mechanical stimulusGO:00712609.7CTNNB1, IGF2
4carbohydrate metabolic processGO:00059758.5GPC1, 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