MCID: SMP003
MIFTS: 53

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 50 25 29 42 14
Simpson Dysmorphia Syndrome 12 50
Golabi-Rosen Syndrome 12 50
Bulldog Syndrome 12 50
Sgbs1 50 25
Sgbs 50 25
Dysplasia Gigantism Syndrome, X-Linked 50
Mental Retardation-Overgrowth Syndrome 25
X-Linked Dysplasia Gigantism Syndrome 12
Simpson-Golabi-Behmel Syndrome Type 1 25
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 : 50 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 1 and simpson-golabi-behmel syndrome, type 2, and has symptoms including scoliosis, macroglossia and wide mouth. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are HIV Life Cycle and Glycosaminoglycan metabolism. Affiliated tissues include heart, kidney and pancreatic islet.

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

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.

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
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 37)
id Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 12.9
2 simpson-golabi-behmel syndrome, type 2 12.8
3 gpc3-related simpson-golabi-behmel syndrome type 1 12.3
4 gpc4-related simpson-golabi-behmel syndrome type 1 12.3
5 ofd1-related simpson-golabi-behmel syndrome type 2 12.3
6 piga-related simpson-golabi-behmel syndrome type 2 12.3
7 hepatoblastoma 11.7
8 sbbyss syndrome 11.6
9 blepharophimosis intellectual disability syndromes 11.5
10 genitopatellar syndrome 11.1
11 say-barber-biesecker variant of ohdo syndrome 10.9
12 mental retardation, x-linked, syndromic 11, shashi type 10.3 GPC3 GPC4
13 synostosis 10.3
14 renal dysplasia 10.3
15 prostatitis 10.3
16 laryngitis 10.3
17 congenital diaphragmatic hernia 10.3
18 hepatocellular carcinoma 10.3
19 choledochal cyst 10.3
20 beckwith-wiedemann syndrome 10.3
21 carotid artery dissection 10.3
22 diffuse neonatal hemangiomatosis 10.3
23 medulloblastoma 10.3
24 hydrops fetalis 10.3
25 craniosynostosis 10.3
26 hypospadias 10.3
27 myeloproliferative neoplasms, familial 10.2 GPC3 GPC4
28 enamel hypoplasia cataract hydrocephaly 10.2 CTNNB1 GPC3
29 retinitis pigmentosa 23 10.1 OFD1 PIGA
30 diabetes mellitus, insulin-dependent, 20 10.1 CTNNB1 GPC3
31 diabetes mellitus, noninsulin-dependent 1 9.9 GPC3 GPC4
32 hypothyroidism 9.8
33 blepharophimosis 9.8
34 gigantism 9.8
35 cold-induced sweating syndrome 9.6 GPC1 GPC3 GPC6
36 bipolar ll disorder 9.6 GPC1 GPC3 GPC6
37 idiopathic scoliosis 6.3 CPXM1 CTNNB1 DPP4 GPC1 GPC3 GPC4

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)
id Description HPO Frequency HPO Source Accession
1 scoliosis 32 frequent (33%) HP:0002650
2 macroglossia 32 hallmark (90%) HP:0000158
3 wide mouth 32 hallmark (90%) HP:0000154
4 umbilical hernia 32 frequent (33%) HP:0001537
5 hepatomegaly 32 hallmark (90%) HP:0002240
6 splenomegaly 32 hallmark (90%) HP:0001744
7 seizures 32 occasional (7.5%) HP:0001250
8 coarse facial features 32 hallmark (90%) HP:0000280
9 hypertelorism 32 hallmark (90%) HP:0000316
10 cleft palate 32 frequent (33%) HP:0000175
11 atrial septal defect 32 frequent (33%) HP:0001631
12 hypospadias 32 occasional (7.5%) HP:0000047
13 ureteral duplication 32 frequent (33%) HP:0000073
14 polyhydramnios 32 frequent (33%) HP:0001561
15 short nose 32 frequent (33%) HP:0003196
16 anteverted nares 32 frequent (33%) HP:0000463
17 global developmental delay 32 occasional (7.5%) HP:0001263
18 hydronephrosis 32 frequent (33%) HP:0000126
19 cryptorchidism 32 hallmark (90%) HP:0000028
20 talipes equinovarus 32 occasional (7.5%) HP:0001762
21 short neck 32 frequent (33%) HP:0000470
22 macrocephaly 32 hallmark (90%) HP:0000256
23 inguinal hernia 32 frequent (33%) HP:0000023
24 intellectual disability 32 occasional (7.5%) HP:0001249
25 hypoglycemia 32 frequent (33%) HP:0001943
26 ventricular septal defect 32 hallmark (90%) HP:0001629
27 cardiomyopathy 32 occasional (7.5%) HP:0001638
28 omphalocele 32 frequent (33%) HP:0001539
29 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
30 wide nasal bridge 32 frequent (33%) HP:0000431
31 webbed neck 32 frequent (33%) HP:0000465
32 pectus excavatum 32 frequent (33%) HP:0000767
33 finger syndactyly 32 frequent (33%) HP:0006101
34 toe syndactyly 32 frequent (33%) HP:0001770
35 dandy-walker malformation 32 occasional (7.5%) HP:0001305
36 downslanted palpebral fissures 32 frequent (33%) HP:0000494
37 low-set, posteriorly rotated ears 32 frequent (33%) HP:0000368
38 congenital hip dislocation 32 occasional (7.5%) HP:0001374
39 tall stature 32 hallmark (90%) HP:0000098
40 hydroureter 32 frequent (33%) HP:0000072
41 epicanthus 32 occasional (7.5%) HP:0000286
42 muscular hypotonia 32 occasional (7.5%) HP:0001252
43 neuroblastoma 32 occasional (7.5%) HP:0003006
44 polysplenia 32 occasional (7.5%) HP:0001748
45 nail dysplasia 32 frequent (33%) HP:0002164
46 hoarse voice 32 occasional (7.5%) HP:0001609
47 congenital diaphragmatic hernia 32 occasional (7.5%) HP:0000776
48 hepatoblastoma 32 occasional (7.5%) HP:0002884
49 broad thumb 32 frequent (33%) HP:0011304
50 high, narrow palate 32 frequent (33%) HP:0002705

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:

id Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome 29

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

39
Heart, Kidney, Pancreatic Islet, Liver, Bone, Prostate, Tongue

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 86)
id Title Authors Year
1
Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome. ( 28371070 )
2017
2
Perinatal Case of Fatal Simpson-Golabi-Behmel Syndrome with Hyperplasia of Seminiferous Tubules. ( 28600484 )
2017
3
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211 )
2017
4
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. ( 28469860 )
2017
5
Hyperechoic renal medullary pyramids in a boy with Simpson-Golabi-Behmel syndrome. ( 28746062 )
2017
6
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164 )
2016
7
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959 )
2016
8
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941 )
2016
9
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178 )
2016
10
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335 )
2016
11
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329 )
2016
12
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374 )
2016
13
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054 )
2016
14
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2015
15
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799 )
2014
16
Simpson-golabi-behmel syndrome types I and II. ( 25238977 )
2014
17
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233 )
2014
18
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025 )
2014
19
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682 )
2014
20
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012 )
2014
21
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032 )
2013
22
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529 )
2013
23
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
24
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
25
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811 )
2013
26
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
27
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378 )
2012
28
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
29
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
30
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395 )
2011
31
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466 )
2011
32
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
33
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223 )
2011
34
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539 )
2010
35
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656 )
2010
36
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991 )
2010
37
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. ( 19590577 )
2009
38
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. ( 19631996 )
2009
39
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. ( 19842194 )
2009
40
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. ( 19372699 )
2009
41
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434 )
2009
42
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
43
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. ( 18619000 )
2008
44
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. ( 18203194 )
2008
45
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. ( 17850639 )
2007
46
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. ( 17603795 )
2007
47
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. ( 17549790 )
2007
48
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. ( 16458828 )
2006
49
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. ( 16166055 )
2005
50
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. ( 16158429 )
2005

Variations for Simpson-Golabi-Behmel Syndrome

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

6
id 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.1414_1573del160 (p.Leu472Asnfs) deletion Pathogenic
3 GPC3 NM_004484.3(GPC3): c.886T> A (p.Trp296Arg) single nucleotide variant Pathogenic rs104894854 GRCh37 Chromosome X, 132887655: 132887655
4 GPC3 NM_004484.3(GPC3): c.1292+1G> T single nucleotide variant Pathogenic rs869025182 GRCh37 Chromosome X, 132826396: 132826396
5 GPC3 NM_004484.3(GPC3): c.595C> T (p.Arg199Ter) single nucleotide variant Pathogenic rs104894855 GRCh37 Chromosome X, 132887946: 132887946
6 GPC3 NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)del deletion Pathogenic GRCh38 Chromosome X, 133661675: 133661926
7 GPC3 NM_004484.3(GPC3): c.337+1G> A single nucleotide variant Pathogenic rs869025183 GRCh37 Chromosome X, 133087076: 133087076
8 GPC3 NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic rs122453121 GRCh37 Chromosome X, 132833930: 132833930
9 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Pathogenic rs267606850 GRCh37 Chromosome X, 132670229: 132670229
10 GPC3 GRCh37/hg19 Xq26.2(chrX: 132834006-132986815) copy number loss Pathogenic GRCh37 Chromosome X, 132834006: 132986815

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:

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 CTNNB1 GPC1 GPC3 GPC4 GPC5 GPC6
2
Show member pathways
12.55 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
12.2 GPC1 GPC3 GPC5 GPC6
6
Show member pathways
12.05 CTNNB1 GPC1 GPC3 GPC5 GPC6
7 11.94 CTNNB1 GPC1 GPC3
8
Show member pathways
11.88 GPC1 GPC3 GPC4 GPC5 GPC6
9
Show member pathways
11.58 CTNNB1 GPC1 GPC3 GPC5 GPC6
10
Show member pathways
11.24 CTNNB1 DPP4
11
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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.87 CPXM1 DPP4 GPC1 GPC3 GPC4 GPC5
2 extracellular space GO:0005615 9.85 CPXM1 GPC1 GPC3 GPC4 GPC5 GPC6
3 integral component of plasma membrane GO:0005887 9.8 GPC1 GPC3 GPC4 GPC5 GPC6
4 proteinaceous extracellular matrix GO:0005578 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
5 anchored component of membrane GO:0031225 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
6 Golgi lumen GO:0005796 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
7 lysosomal lumen GO:0043202 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
8 membrane GO:0016020 10.09 CTNNB1 DPP4 GPC1 GPC3 GPC4 GPC5

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

id Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.65 GPC1 GPC3 GPC4 GPC5 GPC6
2 glycosaminoglycan biosynthetic process GO:0006024 9.55 GPC1 GPC3 GPC4 GPC5 GPC6
3 branching involved in ureteric bud morphogenesis GO:0001658 9.43 CTNNB1 GPC3
4 embryonic hindlimb morphogenesis GO:0035116 9.4 CTNNB1 GPC3
5 osteoclast differentiation GO:0030316 9.37 CTNNB1 GPC3
6 glycosaminoglycan metabolic process GO:0030203 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
7 anterior/posterior axis specification GO:0009948 9.32 CTNNB1 GPC3
8 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:

id Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan binding GO:0043395 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
2 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.96 GPC4 GPC6

Sources for Simpson-Golabi-Behmel Syndrome

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
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