MCID: SMP003
MIFTS: 55

Simpson-Golabi-Behmel Syndrome

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 12 53 25 37 29 6 44 15
Simpson Dysmorphia Syndrome 12 53
Golabi-Rosen Syndrome 12 53
Bulldog Syndrome 12 53
Sgbs1 53 25
Sgbs 53 25
Dysplasia Gigantism Syndrome, X-Linked 53
Mental Retardation-Overgrowth Syndrome 25
X-Linked Dysplasia Gigantism Syndrome 12
Simpson-Golabi-Behmel Syndrome Type 1 25
Syndrome, Simpson-Golabi-Behmel 40
Dgsx Golabi-Rosen Syndrome 12
Simpson Dysplasia Syndrome 25
Sara Angers Syndrome 12
Simpson Syndrome 25
Sgb Syndrome 12
Dgsx 25
Sdys 25

Characteristics:

HPO:

32
simpson-golabi-behmel syndrome:
Mortality/Aging death in infancy


Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome

NIH Rare Diseases : 53 Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (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. The infantile lethal form of SGBS is sometimes known as SGBS type 2. People with SGBS typically have distinctive facial features, including a large distance between the eyes (hypertelorism), an unusually wide mouth (macrostomia) with a large tongue (macroglossia), and abnormalities of the roof of the mouth (palate). Other, findings include extra nipples, various birth defects such as a protrusion of the lining of the abdomen through the area around the belly button (umbilical hernia), and skeletal anomalies. Some people with the condition have a mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including a rare type of kidney cancer (Wilms tumor) and cancer of the nerve tissue (neuroblastoma). SGBS can be caused by mutations in the GPC3 and GPC4 genes. Mutations in other genes have been studied, but have in most instances have only been described in one person or one family. In other cases, the cause is unknown. SGBS is inherited in an X-linked manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, also known as simpson dysmorphia syndrome, is related to simpson-golabi-behmel syndrome, type 1 and simpson-golabi-behmel syndrome, type 2. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include kidney, tongue and eye, and related phenotypes are multicystic kidney dysplasia and inguinal hernia

Genetics Home Reference : 25 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. People with mild cases often live into adulthood.

Disease Ontology : 12 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Wikipedia : 76 Simpson–Golabi–Behmel syndrome (SGBS), also called Bulldog syndrome, Sara Agers syndrome, Golabi–Rosen... more...

Related Diseases for Simpson-Golabi-Behmel Syndrome

Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 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 45)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 35.4 GPC3 GPC4
2 simpson-golabi-behmel syndrome, type 2 35.3 OFD1 PIGA
3 hepatoblastoma 32.4 CTNNB1 GPC3 IGF2
4 ohdo syndrome, sbbys variant 12.1
5 blepharophimosis intellectual disability syndromes 11.8
6 genitopatellar syndrome 11.2
7 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.1
8 perlman syndrome 10.5 GPC3 GPC4
9 hepatic adenomas, familial 10.4 CTNNB1 GPC3
10 embryonal sarcoma 10.3 CTNNB1 GPC3
11 hepatocellular carcinoma 10.3
12 cardiac arrhythmia 10.3
13 sotos syndrome 1 10.3
14 cleft palate, isolated 10.3
15 beckwith-wiedemann syndrome 10.3
16 diaphragmatic hernia, congenital 10.3
17 medulloblastoma 10.3
18 bile duct cysts 10.3
19 leukemia, acute lymphoblastic 10.3
20 hydrops fetalis, nonimmune, and/or atrial septal defect 10.3
21 craniosynostosis 10.3
22 leukemia 10.3
23 lymphoblastic leukemia 10.3
24 hypospadias 10.3
25 synostosis 10.3
26 prostatitis 10.3
27 laryngitis 10.3
28 carotid artery dissection 10.3
29 type i 10.3
30 diffuse neonatal hemangiomatosis 10.3
31 fetal edema 10.3
32 hydrops fetalis 10.3
33 pulmonary venous return anomaly 10.3
34 renal dysplasia 10.3
35 body dysmorphic disorder 10.2 GPC1 GPC3 GPC6
36 omodysplasia 10.2 GPC1 GPC3 GPC6
37 wilms tumor 5 9.9 CTNNB1 GPC3 IGF2
38 blepharophimosis 9.9
39 hypothyroidism 9.9
40 gigantism 9.8
41 gastrointestinal system cancer 9.8 CTNNB1 GPC3 IGF2
42 proteus syndrome 9.8 GPC3 IGF2
43 kat6b-related disorders 9.7
44 wilms tumor 1 9.6 CTNNB1 GPC3 GPC4 IGF2
45 endocrine pancreas disease 9.5 DPP4 IGF2

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



Diseases related to Simpson-Golabi-Behmel Syndrome

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome

Human phenotypes related to Simpson-Golabi-Behmel Syndrome:

32 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 multicystic kidney dysplasia 32 hallmark (90%) HP:0000003
2 inguinal hernia 32 frequent (33%) HP:0000023
3 cryptorchidism 32 hallmark (90%) HP:0000028
4 hypospadias 32 occasional (7.5%) HP:0000047
5 hydroureter 32 frequent (33%) HP:0000072
6 ureteral duplication 32 frequent (33%) HP:0000073
7 tall stature 32 hallmark (90%) HP:0000098
8 hydronephrosis 32 frequent (33%) HP:0000126
9 wide mouth 32 hallmark (90%) HP:0000154
10 macroglossia 32 hallmark (90%) HP:0000158
11 cleft palate 32 frequent (33%) HP:0000175
12 cleft upper lip 32 occasional (7.5%) HP:0000204
13 macrocephaly 32 hallmark (90%) HP:0000256
14 coarse facial features 32 hallmark (90%) HP:0000280
15 epicanthus 32 occasional (7.5%) HP:0000286
16 mandibular prognathia 32 hallmark (90%) HP:0000303
17 hypertelorism 32 hallmark (90%) HP:0000316
18 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
19 wide nasal bridge 32 frequent (33%) HP:0000431
20 anteverted nares 32 frequent (33%) HP:0000463
21 webbed neck 32 frequent (33%) HP:0000465
22 short neck 32 frequent (33%) HP:0000470
23 downslanted palpebral fissures 32 frequent (33%) HP:0000494
24 pectus excavatum 32 frequent (33%) HP:0000767
25 abnormality of the ribs 32 hallmark (90%) HP:0000772
26 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
27 postaxial hand polydactyly 32 hallmark (90%) HP:0001162
28 intellectual disability 32 occasional (7.5%) HP:0001249
29 seizures 32 occasional (7.5%) HP:0001250
30 muscular hypotonia 32 occasional (7.5%) HP:0001252
31 global developmental delay 32 occasional (7.5%) HP:0001263
32 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
33 dandy-walker malformation 32 occasional (7.5%) HP:0001305
34 congenital hip dislocation 32 occasional (7.5%) HP:0001374
35 umbilical hernia 32 frequent (33%) HP:0001537
36 omphalocele 32 frequent (33%) HP:0001539
37 polyhydramnios 32 frequent (33%) HP:0001561
38 hoarse voice 32 occasional (7.5%) HP:0001609
39 ventricular septal defect 32 hallmark (90%) HP:0001629
40 atrial septal defect 32 frequent (33%) HP:0001631
41 cardiomyopathy 32 occasional (7.5%) HP:0001638
42 prolonged qt interval 32 frequent (33%) HP:0001657
43 splenomegaly 32 hallmark (90%) HP:0001744
44 polysplenia 32 occasional (7.5%) HP:0001748
45 talipes equinovarus 32 occasional (7.5%) HP:0001762
46 broad foot 32 hallmark (90%) HP:0001769
47 toe syndactyly 32 frequent (33%) HP:0001770
48 short foot 32 hallmark (90%) HP:0001773
49 small nail 32 frequent (33%) HP:0001792
50 short toe 32 hallmark (90%) HP:0001831

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.87 BAMBI CTNNB1 GPC3 GPC6 IGF2 OFD1
2 growth/size/body region MP:0005378 9.81 BAMBI CTNNB1 DPP4 FABP4 GPC3 GPC6
3 digestive/alimentary MP:0005381 9.73 CTNNB1 GPC3 GPC6 IGF2 OFD1 PIGA
4 limbs/digits/tail MP:0005371 9.43 GPC6 IGF2 OFD1 BAMBI CTNNB1 GPC3
5 skeleton MP:0005390 9.28 BAMBI CTNNB1 GPC3 GPC5 GPC6 IGF2

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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

Cochrane evidence based reviews: simpson-golabi-behmel syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

Genetic tests related to Simpson-Golabi-Behmel Syndrome:

# Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome 29 GPC3 GPC4

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

41
Kidney, Tongue, Eye, Pancreatic Islet, Prostate, Liver, Adipocyte

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 93)
# Title Authors Year
1
Simpson-Golabi-Behmel syndrome human adipocytes reveal a changing phenotype throughout differentiation. ( 29574488 )
2018
2
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum. ( 29652239 )
2018
3
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. ( 29737011 )
2018
4
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. ( 29637653 )
2018
5
Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis? ( 29372559 )
2018
6
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. ( 28371070 )
2017
7
Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. ( 29240237 )
2017
8
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. ( 28746062 )
2017
9
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. ( 28469860 )
2017
10
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211 )
2017
11
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. ( 28600484 )
2017
12
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178 )
2016
13
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959 )
2016
14
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374 )
2016
15
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164 )
2016
16
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941 )
2016
17
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335 )
2016
18
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054 )
2016
19
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329 )
2016
20
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2015
21
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012 )
2014
22
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799 )
2014
23
Simpson-golabi-behmel syndrome types I and II. ( 25238977 )
2014
24
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025 )
2014
25
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233 )
2014
26
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682 )
2014
27
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
28
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032 )
2013
29
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
30
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811 )
2013
31
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529 )
2013
32
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
33
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378 )
2012
34
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
35
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
36
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466 )
2011
37
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223 )
2011
38
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
39
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395 )
2011
40
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539 )
2010
41
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991 )
2010
42
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656 )
2010
43
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434 )
2009
44
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. ( 19631996 )
2009
45
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. ( 19590577 )
2009
46
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
47
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. ( 19372699 )
2009
48
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. ( 19842194 )
2009
49
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. ( 18203194 )
2008
50
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. ( 18619000 )
2008

Variations for Simpson-Golabi-Behmel Syndrome

ClinVar genetic disease variations for Simpson-Golabi-Behmel Syndrome:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPC3 NM_004484.3(GPC3): c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs) deletion Pathogenic rs869025181 GRCh37 Chromosome X, 133087208: 133087220
2 GPC3 NM_004484.3(GPC3): c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs) deletion Pathogenic rs869025181 GRCh38 Chromosome X, 133953181: 133953193
3 GPC3 NM_004484.3(GPC3): c.1414_1573del160 (p.Leu472Asnfs) deletion Pathogenic
4 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh37 Chromosome X, 132887655: 132887655
5 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh38 Chromosome X, 133753628: 133753628
6 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh37 Chromosome X, 132826396: 132826396
7 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh38 Chromosome X, 133692368: 133692368
8 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh37 Chromosome X, 132887946: 132887946
9 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh38 Chromosome X, 133753919: 133753919
10 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh38 Chromosome X, 133661675: 133661926
11 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh37 Chromosome X, 132795703: 132795954
12 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh37 Chromosome X, 133087076: 133087076
13 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh38 Chromosome X, 133953049: 133953049
14 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh37 Chromosome X, 132833930: 132833930
15 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh38 Chromosome X, 133699902: 133699902
16 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh37 Chromosome X, 132670229: 132670229
17 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh38 Chromosome X, 133536201: 133536201
18 GPC3 GRCh37/hg19 Xq26.2(chrX: 132834006-132986815) copy number loss Pathogenic GRCh37 Chromosome X, 132834006: 132986815
19 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh38 Chromosome X, 133536175: 133536175
20 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh37 Chromosome X, 132670203: 132670203

Expression for Simpson-Golabi-Behmel Syndrome

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.

Pathways for Simpson-Golabi-Behmel Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 FABP4 GPC1 GPC3 GPC4 GPC5 GPC6
2
Show member pathways
12.58 GPC1 GPC3 GPC4 GPC5 GPC6
3
Show member pathways
12.37 GPC1 GPC3 GPC4 GPC5 GPC6
4
Show member pathways
12.23 GPC1 GPC3 GPC4 GPC5 GPC6
5
Show member pathways
12.22 GPC1 GPC3 GPC5 GPC6
6
Show member pathways
12.04 CTNNB1 GPC1 GPC3 GPC5 GPC6
7 12.01 CTNNB1 GPC1 GPC3 IGF2
8
Show member pathways
11.88 GPC1 GPC3 GPC4 GPC5 GPC6
9
Show member pathways
11.53 CTNNB1 GPC1 GPC3 GPC5 GPC6
10
Show member pathways
11.19 GPC1 GPC3 GPC4 GPC5 GPC6

GO Terms for Simpson-Golabi-Behmel Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.92 CPXM1 DPP4 GPC1 GPC3 GPC4 GPC5
2 extracellular space GO:0005615 9.91 CPXM1 GPC1 GPC3 GPC4 GPC5 GPC6
3 anchored component of membrane GO:0031225 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
4 Golgi lumen GO:0005796 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
5 lysosomal lumen GO:0043202 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
6 anchored component of plasma membrane GO:0046658 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
7 plasma membrane GO:0005886 10.1 BAMBI CTNNB1 DPP4 GPC1 GPC3 GPC4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.8 BAMBI CTNNB1 DPP4 IGF2
2 retinoid metabolic process GO:0001523 9.72 GPC1 GPC3 GPC4 GPC5 GPC6
3 regulation of signal transduction GO:0009966 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
4 glycosaminoglycan biosynthetic process GO:0006024 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
5 osteoclast differentiation GO:0030316 9.48 CTNNB1 GPC3
6 embryonic hindlimb morphogenesis GO:0035116 9.46 CTNNB1 GPC3
7 bile acid biosynthetic process GO:0006699 9.43 OSBPL2 OSBPL3
8 anterior/posterior axis specification GO:0009948 9.4 CTNNB1 GPC3
9 sterol transport GO:0015918 9.37 OSBPL2 OSBPL3
10 glycosaminoglycan metabolic process GO:0030203 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
11 glycosaminoglycan catabolic process GO:0006027 9.02 GPC1 GPC3 GPC4 GPC5 GPC6

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

# Name GO ID Score Top Affiliating Genes
1 sterol transporter activity GO:0015248 9.16 OSBPL2 OSBPL3
2 heparan sulfate proteoglycan binding GO:0043395 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
3 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.96 GPC4 GPC6

Sources for Simpson-Golabi-Behmel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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