DGSX
MCID: SMP003
MIFTS: 51

Simpson-Golabi-Behmel Syndrome (DGSX) malady

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

Aliases & Descriptions 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
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:



External Ids:

Disease Ontology 12 DOID:0060248
MeSH 42 C537340
NCIt 47 C118787
SNOMED-CT 64 439143004
UMLS 69 C0796154

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 seizures, macrocephaly and hypertelorism. 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 heart, kidney and pancreatic islet, and related phenotype is Increased Sindbis virus (SINV) infection.

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. The most severe cases are life-threatening before birth or in infancy, whereas people with milder 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.

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 36)
id Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 1 12.9
2 simpson-golabi-behmel syndrome, type 2 12.9
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 11.0
12 renal dysplasia 10.3
13 prostatitis 10.3
14 laryngitis 10.3
15 congenital diaphragmatic hernia 10.3
16 medulloblastoma 10.3
17 hepatocellular carcinoma 10.3
18 choledochal cyst 10.3
19 beckwith-wiedemann syndrome 10.3
20 carotid artery dissection 10.3
21 diffuse neonatal hemangiomatosis 10.3
22 hydrops fetalis 10.3
23 total anomalous pulmonary venous return 10.3
24 craniosynostosis 10.3
25 hypospadias 10.3
26 synostosis 10.3
27 diabetes mellitus, noninsulin-dependent 1 10.1 GPC3 GPC4
28 retinitis pigmentosa 23 10.1 OFD1 PIGA
29 myeloproliferative neoplasms, familial 10.0 GPC3 GPC4
30 cold-induced sweating syndrome 9.9 GPC1 GPC3 GPC6
31 benign familial infantile epilepsy 9.9 GPC1 GPC3 GPC6
32 hypothyroidism 9.8
33 blepharophimosis 9.8
34 gigantism 9.8
35 immunodeficiency, x-linked, with hyper-igm 8.8 GPC1 GPC3 GPC4 GPC5 GPC6 IGF2
36 sclerosteosis 8.6 GPC1 GPC3 GPC4 GPC5 GPC6 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)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 macrocephaly 32 HP:0000256
3 hypertelorism 32 HP:0000316
4 short neck 32 HP:0000470
5 pectus excavatum 32 HP:0000767
6 agenesis of corpus callosum 32 HP:0001274
7 finger syndactyly 32 HP:0006101
8 intellectual disability 32 HP:0001249
9 muscular hypotonia 32 HP:0001252
10 neurological speech impairment 32 HP:0002167
11 scoliosis 32 HP:0002650
12 inguinal hernia 32 HP:0000023
13 macroglossia 32 HP:0000158
14 coarse facial features 32 HP:0000280
15 mandibular prognathia 32 HP:0000303
16 global developmental delay 32 HP:0001263
17 splenomegaly 32 HP:0001744
18 hepatomegaly 32 HP:0002240
19 abnormality of the helix 32 HP:0011039
20 wide nasal bridge 32 HP:0000431
21 umbilical hernia 32 HP:0001537
22 short nose 32 HP:0003196
23 anteverted nares 32 HP:0000463
24 broad thumb 32 HP:0011304
25 hypoglycemia 32 HP:0001943
26 cleft palate 32 HP:0000175
27 aplasia/hypoplasia of the abdominal wall musculature 32 HP:0010318
28 epicanthus 32 HP:0000286
29 short foot 32 HP:0001773
30 cryptorchidism 32 HP:0000028
31 webbed neck 32 HP:0000465
32 high, narrow palate 32 HP:0002705
33 prolonged qt interval 32 HP:0001657
34 short toe 32 HP:0001831
35 cardiomyopathy 32 HP:0001638
36 wide mouth 32 HP:0000154
37 hypospadias 32 HP:0000047
38 clinodactyly of the 5th finger 32 HP:0004209
39 small nail 32 HP:0001792
40 bundle branch block 32 HP:0011710
41 multicystic kidney dysplasia 32 HP:0000003
42 low-set, posteriorly rotated ears 32 HP:0000368
43 downslanted palpebral fissures 32 HP:0000494
44 polyhydramnios 32 HP:0001561
45 ventricular septal defect 32 HP:0001629
46 talipes equinovarus 32 HP:0001762
47 abnormality of the ribs 32 HP:0000772
48 hypoplasia of penis 32 HP:0008736
49 hoarse voice 32 HP:0001609
50 vertebral fusion 32 HP:0002948

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 9.1 GPC6 OSBPL2 GPC3
2 Increased Sindbis virus (SINV) infection GR00310-A-2 9.1 GPC6 OSBPL2 GPC3

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, Bone, Liver, Tongue, Prostate

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 83)
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
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. ( 27739211 )
2017
3
Rare dental manifestation in Simpson-Golabi-Behmel syndrome. ( 26742178 )
2016
4
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. ( 26847959 )
2016
5
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. ( 26915941 )
2016
6
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. ( 27589329 )
2016
7
Marsupialisation of kerastocystic odontogenic tumours in a patient with Simpson-Golabi-Behmel syndrome. ( 27449335 )
2016
8
Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome. ( 27790374 )
2016
9
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome. ( 27612164 )
2016
10
Distinctive findings in a boy with Simpson-Golabi-Behmel syndrome. ( 26692054 )
2016
11
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. ( 26545172 )
2015
12
Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. ( 24214682 )
2014
13
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. ( 24459012 )
2014
14
Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. ( 25073799 )
2014
15
Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome. ( 25245233 )
2014
16
A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. ( 25804025 )
2014
17
Simpson-golabi-behmel syndrome types I and II. ( 25238977 )
2014
18
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
19
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. ( 24166811 )
2013
20
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
21
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
22
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation. ( 24357529 )
2013
23
Simpson-Golabi-Behmel syndrome diagnosed by postmortem magnetic resonance imaging, restricted autopsy, and molecular genetics: a case report. ( 24169032 )
2013
24
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. ( 22795092 )
2012
25
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. ( 22893378 )
2012
26
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
27
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. ( 20950395 )
2011
28
Simpson-Golabi-Behmel syndrome associated with cleft palate. ( 21959466 )
2011
29
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
30
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. ( 21204223 )
2011
31
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. ( 21082656 )
2010
32
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome. ( 21434539 )
2010
33
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. ( 20683991 )
2010
34
Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome. ( 19372699 )
2009
35
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. ( 19842194 )
2009
36
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child. ( 19681434 )
2009
37
Overgrowth of a mouse model of Simpson-Golabi-Behmel syndrome is partly mediated by Indian hedgehog. ( 19590577 )
2009
38
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
39
New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. ( 19631996 )
2009
40
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. ( 18203194 )
2008
41
Speech and language in Simpson-Golabi-Behmel syndrome: a case report. ( 18619000 )
2008
42
The Simpson-Golabi-Behmel syndrome causative glypican-3, binds to and inhibits the dipeptidyl peptidase activity of CD26. ( 17549790 )
2007
43
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. ( 17603795 )
2007
44
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. ( 17850639 )
2007
45
Expanding the clinical picture of Simpson-Golabi-Behmel syndrome. ( 16458828 )
2006
46
Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome. ( 16166055 )
2005
47
Index finger abnormalities in Simpson-Golabi-Behmel syndrome. ( 15602092 )
2005
48
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. ( 16158429 )
2005
49
The tongue-base suspension using Repose bone screw system in a child with Simpson-Golabi-Behmel syndrome. Case report. ( 14550971 )
2003
50
Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature. ( 12713262 )
2003

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 NC_000023.10: g.132834006_132986815del 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.69 GPC1 GPC3 GPC4 GPC5 GPC6 OSBPL2
2
Show member pathways
12.52 GPC1 GPC3 GPC4 GPC5 GPC6
3
Show member pathways
12.26 GPC1 GPC3 GPC4 GPC5 GPC6
4
Show member pathways
12.2 GPC1 GPC3 GPC5 GPC6
5
Show member pathways
12.1 GPC1 GPC3 GPC5 GPC6
6
Show member pathways
12.06 GPC1 GPC3 GPC4 GPC5 GPC6
7 11.96 GPC1 GPC3 IGF2
8
Show member pathways
11.85 GPC1 GPC3 GPC5 GPC6
9
Show member pathways
11.68 GPC1 GPC3 GPC4 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.88 GPC1 GPC3 GPC4 GPC5 GPC6 IGF2
2 extracellular space GO:0005615 9.8 GPC1 GPC3 GPC4 GPC5 GPC6 IGF2
3 integral component of plasma membrane GO:0005887 9.77 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

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 bile acid biosynthetic process GO:0006699 9.37 OSBPL2 OSBPL3
4 glycosaminoglycan metabolic process GO:0030203 9.35 GPC1 GPC3 GPC4 GPC5 GPC6
5 sterol transport GO:0015918 9.32 OSBPL2 OSBPL3
6 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 cholesterol binding GO:0015485 9.26 OSBPL2 OSBPL3
2 sterol transporter activity GO:0015248 9.16 OSBPL2 OSBPL3
3 heparan sulfate proteoglycan binding GO:0043395 9.02 GPC1 GPC3 GPC4 GPC5 GPC6
4 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
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10 dbSNP
11 DGIdb
16 ExPASy
18 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
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
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70 UMLS via Orphanet
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