MCID: SMP003
MIFTS: 58

Simpson-Golabi-Behmel Syndrome malady

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

Summaries for Simpson-Golabi-Behmel Syndrome

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NIH Rare Diseases:41 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 x-linked dysplasia gigantism syndrome, is related to hepatoblastoma and beckwith-wiedemann syndrome, and has symptoms including multicystic kidney dysplasia, cryptorchidism and tall stature. 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 tongue, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:9 An x-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

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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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 47Orphanet, 22GTR, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Simpson-Golabi-Behmel Syndrome, Aliases & Descriptions:

Name: Simpson-Golabi-Behmel Syndrome 9 41 21 47 22
X-Linked Dysplasia Gigantism Syndrome 9 41 47
Simpson Dysmorphia Syndrome 9 41 47
Golabi-Rosen Syndrome 9 41 47
Sgbs1 41 21 47
Dgsx 41 21 47
Sgbs 41 21 47
Sdys 41 21 47
Simpson-Golabi-Behmel Syndrome Type 1 41 47
 
Bulldog Syndrome 9 41
Mental Retardation-Overgrowth Syndrome 21
Dysplasia Gigantism Syndrome, X-Linked 41
Dgsx Golabi-Rosen Syndrome 9
Simpson Dysplasia Syndrome 21
Sara Angers Syndrome 9
Simpson Syndrome 21
Sgb Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
simpson-golabi-behmel syndrome:
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal


External Ids:

Disease Ontology9 DOID:0060248
MeSH33 C537340
ICD9CM27 759.89
Orphanet47 373
MESH via Orphanet34 C537340
ICD10 via Orphanet26 Q87.3

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
1hepatoblastoma31.3GPC3, IGF2
2beckwith-wiedemann syndrome30.5GPC3, IGF2, IGF2R
3hepatocellular carcinoma30.0IGF2R, IGF2, GPC3, DPP4
4simpson-golabi-behmel syndrome, type 111.0
5simpson-golabi-behmel syndrome, type 211.0
6gpc3-related simpson-golabi-behmel syndrome type 110.7
7gpc4-related simpson-golabi-behmel syndrome type 110.7
8gigantism10.5
9medulloblastoma10.5
10total anomalous pulmonary venous return10.5
11craniosynostosis10.5
12hypospadias10.5
13carotid artery dissection10.5
14choledochal cyst10.5
15congenital diaphragmatic hernia10.5
16laryngitis10.5
17prostatitis10.5
18synostosis10.5
19diffuse neonatal hemangiomatosis10.5
20hydrops fetalis10.5
21mental retardation10.5
22renal dysplasia10.5
23blepharophimosis-intellectual disability syndrome10.4
24ohdo syndrome, say-barber-biesecker-young-simpson variant10.3
25blepharophimosis10.2
26hypothyroidism10.2
27blepharophimosis-intellectual disability syndrome, sbbys type10.2
28seminoma10.1IGF2, GPC3
29schizophrenia10.1
30hiv-110.1
31hypoxia10.1
32diabetes mellitus, noninsulin-dependent10.1DPP4, IGF2
33sbbyss syndrome10.1
34wilms tumor10.1IGF2, GPC3
35hypoglycemia10.0DPP4, IGF2
36colon adenocarcinoma10.0DPP4, IGF2
37liver cirrhosis10.0DPP4, GPC3
38choriocarcinoma9.9GPC3, IGF2
39hepatitis9.8DPP4, GPC3, IGF2R
40hyperinsulinism9.7DPP4, IGF2, IGF2R
41colorectal cancer9.7IGF2R, IGF2, DPP4
42lung cancer9.7IGF2R, IGF2, DPP4
43prostate cancer9.6DPP4, IGF2, IGF2R

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:

 47 (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

HPO human phenotypes related to Simpson-Golabi-Behmel Syndrome:

(show all 62)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 cryptorchidism hallmark (90%) HP:0000028
3 tall stature hallmark (90%) HP:0000098
4 wide mouth hallmark (90%) HP:0000154
5 abnormality of the tongue hallmark (90%) HP:0000157
6 macrocephaly hallmark (90%) HP:0000256
7 coarse facial features hallmark (90%) HP:0000280
8 mandibular prognathia hallmark (90%) HP:0000303
9 hypertelorism hallmark (90%) HP:0000316
10 abnormality of the ribs hallmark (90%) HP:0000772
11 postaxial hand polydactyly hallmark (90%) HP:0001162
12 splenomegaly hallmark (90%) HP:0001744
13 broad foot hallmark (90%) HP:0001769
14 short toe hallmark (90%) HP:0001831
15 hepatomegaly hallmark (90%) HP:0002240
16 supernumerary nipples hallmark (90%) HP:0002558
17 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
18 abnormality of the ureter typical (50%) HP:0000069
19 cleft palate typical (50%) HP:0000175
20 low-set, posteriorly rotated ears typical (50%) HP:0000368
21 anteverted nares typical (50%) HP:0000463
22 webbed neck typical (50%) HP:0000465
23 short neck typical (50%) HP:0000470
24 downslanted palpebral fissures typical (50%) HP:0000494
25 pectus excavatum typical (50%) HP:0000767
26 abnormality of the fingernails typical (50%) HP:0001231
27 umbilical hernia typical (50%) HP:0001537
28 omphalocele typical (50%) HP:0001539
29 polyhydramnios typical (50%) HP:0001561
30 ventricular septal defect typical (50%) HP:0001629
31 defect in the atrial septum typical (50%) HP:0001631
32 toe syndactyly typical (50%) HP:0001770
33 hypoglycemia typical (50%) HP:0001943
34 neurological speech impairment typical (50%) HP:0002167
35 scoliosis typical (50%) HP:0002650
36 short nose typical (50%) HP:0003196
37 clinodactyly of the 5th finger typical (50%) HP:0004209
38 finger syndactyly typical (50%) HP:0006101
39 abnormality of thumb phalanx typical (50%) HP:0009602
40 aplasia/hypoplasia of the abdominal wall musculature typical (50%) HP:0010318
41 abnormality of the helix typical (50%) HP:0011039
42 arrhythmia typical (50%) HP:0011675
43 camptodactyly of finger typical (50%) HP:0100490
44 cleft upper lip occasional (7.5%) HP:0000204
45 epicanthus occasional (7.5%) HP:0000286
46 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
47 seizures occasional (7.5%) HP:0001250
48 muscular hypotonia occasional (7.5%) HP:0001252
49 dandy-walker malformation occasional (7.5%) HP:0001305
50 abnormality of the voice occasional (7.5%) HP:0001608
51 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
52 abnormality of the pancreas occasional (7.5%) HP:0001732
53 talipes occasional (7.5%) HP:0001883
54 nephroblastoma (wilms tumor) occasional (7.5%) HP:0002667
55 hepatoblastoma occasional (7.5%) HP:0002884
56 neuroblastoma occasional (7.5%) HP:0003006
57 abnormality of the hip bone occasional (7.5%) HP:0003272
58 accelerated skeletal maturation occasional (7.5%) HP:0005616
59 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
60 hypoplasia of penis occasional (7.5%) HP:0008736
61 cognitive impairment occasional (7.5%) HP:0100543
62 displacement of the external urethral meatus occasional (7.5%) HP:0100627

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:

31
Heart, Bone, Tongue, Spleen, Kidney, Pancreas, Testes, Liver, Prostate

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4IGF2, GPC3, OFD1, IGF2R
2MP:00053828.4GPC3, IGF2, OFD1, IGF2R
3MP:00053678.4IGF2R, OFD1, GPC3, IGF2
4MP:00053888.3GPC3, IGF2, IGF2R, OFD1
5MP:00053908.3GPC3, IGF2, IGF2R, OFD1
6MP:00053808.2IGF2, OFD1, GPC3, IGF2R
7MP:00053848.2GPC3, IGF2R, IGF2, OFD1
8MP:00053858.1IGF2R, GPC3, OFD1, IGF2
9MP:00053978.0IGF2R, GPC3, GPC4, IGF2
10MP:00053787.7IGF2, IGF2R, 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
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (17850639)
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
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. (12713262)
2003
34
Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report. (11967762)
2002
35
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. (11477610)
2001
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
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
Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. (9389646)
1997
43
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome. (9192268)
1997
44
A case of nondiabetic macrosomia with Simpson-Golabi-Behmel syndrome: antenatal sonographic findings. (7794515)
1995
45
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. (7909248)
1994
46
Simpson-Golabi-Behmel syndrome: disproportionate fetal overgrowth and elevated maternal serum alpha-fetoprotein. (7520583)
1994
47
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (8209925)
1994
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 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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Compounds for genes affiliated with Simpson-Golabi-Behmel Syndrome

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Sources:
43Novoseek, 24HMDB
See all sources

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

(show all 13)
idCompoundScoreTop Affiliating Genes
1diethylnitrosamine439.8IGF2, GPC3
25-aza-2deoxycytidine439.5GPC3, IGF2
3c-peptide439.5IGF2, DPP4
4proliferin439.4IGF2, IGF2R
5perillyl alcohol43 2410.3IGF2R, IGF2
6valine439.3DPP4, IGF2
7mannose439.2IGF2, IGF2R
8heparan sulfate43 2410.0IGF2R, GPC3, GPC4
9mannose 6-phosphate43 249.8DPP4, IGF2, IGF2R
10glycogen43 249.7DPP4, IGF2, IGF2R
11retinoic acid43 249.6DPP4, IGF2, IGF2R
12cysteine438.4IGF2R, IGF2, DPP4
13glucose438.2DPP4, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.5GPC4, GPC3
2Golgi lumenGO:00057969.3GPC3, GPC4
3endocytic vesicleGO:00301399.0IGF2R, DPP4
4integral component of plasma membraneGO:00058878.8GPC3, IGF2R, GPC4
5extracellular spaceGO:00056158.3GPC4, GPC3, IGF2, IGF2R

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:00060279.8GPC4, GPC3
2glycosaminoglycan biosynthetic processGO:00060249.7GPC4, GPC3
3chondroitin sulfate metabolic processGO:00302049.7GPC4, GPC3
4retinoid metabolic processGO:00015239.6GPC3, GPC4
5glycosaminoglycan metabolic processGO:00302039.6GPC4, GPC3
6phototransduction, visible lightGO:00076039.5GPC4, GPC3
7anatomical structure morphogenesisGO:00096539.3GPC4, GPC3

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

idNameGO IDScoreTop Affiliating Genes
1heparan sulfate proteoglycan bindingGO:00433959.3GPC4, GPC3
2protein bindingGO:00055157.6OFD1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet