SGBS1
MCID: SMP007
MIFTS: 47

Simpson-Golabi-Behmel Syndrome, Type 1 (SGBS1)

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome, Type 1

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome, Type 1:

Name: Simpson-Golabi-Behmel Syndrome, Type 1 58 13
Simpson-Golabi-Behmel Syndrome Type 1 12 25 60 15
Simpson Dysmorphia Syndrome 58 12 60 76
Golabi-Rosen Syndrome 58 12 60 76
Bulldog Syndrome 58 12 76
Sgbs1 58 60 76
Dgsx 58 60 76
Sdys 58 60 76
X-Linked Dysplasia Gigantism Syndrome 12 60
Simpson-Golabi-Behmel Syndrome 60 45
Sgbs 58 60
Dysplasia Gigantism Syndrome, X-Linked; Dgsx 58
Syndrome, Simpson-Golabi-Behmel, Type 1 41
Dysplasia Gigantism Syndrome, X-Linked 58
Dysplasia Gigantism Syndrome X-Linked 76
Simpson Dysmorphia Syndrome; Sdys 58
Simpson-Golabi-Behmel Syndrome 1 76
Dgsx Golabi-Rosen Syndrome 12
Sara Angers Syndrome 12
Sgb Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
simpson-golabi-behmel syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive


HPO:

33
simpson-golabi-behmel syndrome, type 1:
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance Penetrance in heterozygous females is unknown, but mildly affected females have been reported. all males reported with a gpc3 pathogenic variant have had clinical findings of sgbs1...

Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

OMIM : 58 Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome. See also Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), which has been associated with a mutation in the CXORF5 gene (300170) on chromosome Xp22. (312870)

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, Type 1, also known as simpson-golabi-behmel syndrome type 1, is related to simpson-golabi-behmel syndrome and simpson-golabi-behmel syndrome, type 2. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 1 is GPC3 (Glypican 3), and among its related pathways/superpathways are Degradation of the extracellular matrix and Glycosaminoglycan metabolism. Affiliated tissues include kidney, skin and bone, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 An X-linked recessive disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has material basis in mutation in the gene encoding glypican-3 on chromosome Xq26.

UniProtKB/Swiss-Prot : 76 Simpson-Golabi-Behmel syndrome 1: A condition characterized by pre- and postnatal overgrowth (gigantism), facial dysmorphism and a variety of inconstant visceral and skeletal malformations. Characteristic dysmorphic features include macrocephaly with coarse, distinctive facies with a large protruding jaw, broad nasal bridge and cleft palate. Cardiac defects are frequent.

GeneReviews: NBK1219

Related Diseases for Simpson-Golabi-Behmel Syndrome, Type 1

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, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 33.3 GPC3 GPC4
2 simpson-golabi-behmel syndrome, type 2 13.2
3 hepatoblastoma 10.5
4 hepatocellular carcinoma 10.5
5 sotos syndrome 1 10.5
6 cleft palate, isolated 10.5
7 beckwith-wiedemann syndrome 10.5
8 diaphragmatic hernia, congenital 10.5
9 attention deficit-hyperactivity disorder 10.5
10 medulloblastoma 10.5
11 bile duct cysts 10.5
12 leukemia, acute lymphoblastic 10.5
13 lymphatic malformation 7 10.5
14 craniosynostosis 10.5
15 leukemia 10.5
16 pol iii-related leukodystrophies 10.5
17 lymphocytic leukemia 10.5
18 hypospadias 10.5
19 synostosis 10.5
20 sex development disorder 10.5
21 acromegaly 10.5
22 carotid artery dissection 10.5
23 diffuse neonatal hemangiomatosis 10.5
24 fetal edema 10.5
25 hydrops fetalis 10.5
26 pulmonary venous return anomaly 10.5
27 renal dysplasia 10.5
28 gigantism 10.3
29 schizophrenia 10.2
30 body dysmorphic disorder 10.1 GPC1 GPC3
31 pulmonary alveolar microlithiasis 10.1
32 skin disease 10.1
33 hypoxia 10.1
34 ovarian clear cell carcinoma 10.0 CD44 GPC3
35 gastrointestinal system cancer 9.9 CD44 GPC3
36 endocrine gland cancer 9.9 CD44 GPC3
37 omodysplasia 9.8 CD44 GPC1 GPC3
38 achondrogenesis, type ia 9.8 ACAN COL2A1
39 cartilage disease 9.8 ACAN COL2A1
40 achondrogenesis, type ii 9.8 ACAN COL2A1
41 hypochondrogenesis 9.8 ACAN COL2A1
42 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8 ACAN COL2A1
43 bone deterioration disease 9.8 ACAN COL2A1
44 ischemic bone disease 9.7 ACAN COL2A1
45 spinal stenosis 9.7 ACAN COL2A1
46 bone structure disease 9.7 ACAN COL2A1
47 multiple epiphyseal dysplasia 9.7 ACAN COL2A1
48 bone inflammation disease 9.7 ACAN COL2A1
49 autosomal dominant disease 9.4 ACAN COL2A1

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome, Type 1:



Diseases related to Simpson-Golabi-Behmel Syndrome, Type 1

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome, Type 1

Human phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 1:

60 33 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 Very frequent (99-80%) HP:0000256
2 hypertelorism 60 33 Very frequent (99-80%) HP:0000316
3 pectus excavatum 60 33 Frequent (79-30%) HP:0000767
4 agenesis of corpus callosum 60 33 Occasional (29-5%) HP:0001274
5 muscular hypotonia 60 33 Occasional (29-5%) HP:0001252
6 scoliosis 60 33 Frequent (79-30%) HP:0002650
7 inguinal hernia 60 33 Frequent (79-30%) HP:0000023
8 macroglossia 60 33 Very frequent (99-80%) HP:0000158
9 coarse facial features 60 33 Very frequent (99-80%) HP:0000280
10 splenomegaly 60 33 Very frequent (99-80%) HP:0001744
11 hepatomegaly 60 33 Very frequent (99-80%) HP:0002240
12 wide nasal bridge 60 33 Frequent (79-30%) HP:0000431
13 umbilical hernia 60 33 Frequent (79-30%) HP:0001537
14 short nose 60 33 Frequent (79-30%) HP:0003196
15 anteverted nares 60 33 Frequent (79-30%) HP:0000463
16 broad thumb 60 33 Frequent (79-30%) HP:0011304
17 cleft palate 60 33 Frequent (79-30%) HP:0000175
18 epicanthus 60 33 Occasional (29-5%) HP:0000286
19 short foot 60 33 Very frequent (99-80%) HP:0001773
20 cryptorchidism 60 33 Very frequent (99-80%) HP:0000028
21 cardiomyopathy 60 33 Occasional (29-5%) HP:0001638
22 talipes equinovarus 60 33 Occasional (29-5%) HP:0001762
23 wide mouth 60 33 Very frequent (99-80%) HP:0000154
24 hypospadias 60 33 Occasional (29-5%) HP:0000047
25 small nail 60 33 Frequent (79-30%) HP:0001792
26 downslanted palpebral fissures 60 33 Frequent (79-30%) HP:0000494
27 ventricular septal defect 60 33 Very frequent (99-80%) HP:0001629
28 vertebral segmentation defect 60 33 Very frequent (99-80%) HP:0003422
29 postaxial hand polydactyly 60 33 Very frequent (99-80%) HP:0001162
30 nephroblastoma 60 33 Occasional (29-5%) HP:0002667
31 congenital diaphragmatic hernia 60 33 Occasional (29-5%) HP:0000776
32 accelerated skeletal maturation 60 33 Occasional (29-5%) HP:0005616
33 supernumerary nipple 60 33 Very frequent (99-80%) HP:0002558
34 broad foot 60 33 Very frequent (99-80%) HP:0001769
35 polysplenia 60 33 Occasional (29-5%) HP:0001748
36 pancreatic islet-cell hyperplasia 60 33 Occasional (29-5%) HP:0004510
37 short neck 60 Frequent (79-30%)
38 finger syndactyly 60 Frequent (79-30%)
39 hydrocephalus 33 HP:0000238
40 intellectual disability 60 Occasional (29-5%)
41 seizures 60 Occasional (29-5%)
42 neurological speech impairment 60 Frequent (79-30%)
43 mandibular prognathia 60 Very frequent (99-80%)
44 hearing impairment 33 HP:0000365
45 dental malocclusion 33 HP:0000689
46 global developmental delay 60 Occasional (29-5%)
47 depressed nasal bridge 33 HP:0005280
48 abnormality of the helix 60 Frequent (79-30%)
49 arrhythmia 33 HP:0011675
50 hypoglycemia 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
cervical ribs
13 pairs of ribs

Skeletal Spine:
scoliosis
six lumbar vertebrae
vertebral segmentation defects
fusion of c2-c3 posterior elements
sacral defects
more
Head And Neck Mouth:
macroglossia
cleft palate
broad secondary alveolar ridge
submucous cleft lip
macrostomia
more
Abdomen Spleen:
splenomegaly
polysplenia

Head And Neck Nose:
short nose
broad flat nasal bridge
upturned nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Abdomen Gastrointestinal:
intestinal malrotation
meckel diverticulum

Growth Height:
tall stature
birth length greater than 97th percentile

Skeletal Hands:
postaxial polydactyly
short broad hands
broad thumbs
distal phalangeal hypoplasia
syndactyly 2nd-3rd fingers
more
Head And Neck Ears:
hearing loss
preauricular tags
preauricular pits

Head And Neck Face:
coarse facies

Neoplasia:
wilms tumor
embryonal tumors

Chest Diaphragm:
diaphragmatic hernia

Growth Weight:
birth weight greater than 97th percentile

Abdomen Pancreas:
hyperplastic islets of langerhans

Skin Nails Hair Skin:
coccygeal skin tags

Prenatal Manifestations:
nuchal translucency

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
cerebellar vermis hypoplasia
hypotonia
development varies from normal to retarded

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Teeth:
dental malocclusion

Abdomen Liver:
hepatomegaly

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

Cardiovascular Heart:
cardiomyopathy
ventricular septal defect
pulmonic stenosis
cardiac conduction defects

Respiratory Lung:
lung segmentation defects

Abdomen External Features:
diastasis recti
umbilical hernias

Skeletal Feet:
clubfoot
broad toes
short broad feet
syndactyly 2nd-3rd toes

Skeletal:
advanced bone age

Chest Breasts:
supernumerary nipples

Genitourinary Kidneys:
large kidneys
cystic kidneys
duplication of renal pelvis

Prenatal Manifestations Maternal:
increased alpha-fetoprotein

Growth Other:
birth head circumference greater than 97th percentile

Skeletal Pelvis:
flared iliac wing
narrow sacroiliac notches in infancy

Skin Nails Hair Nails:
fingernail hypoplasia

Clinical features from OMIM:

312870

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome, Type 1

Search Clinical Trials , NIH Clinical Center for Simpson-Golabi-Behmel Syndrome, Type 1

Cochrane evidence based reviews: simpson-golabi-behmel syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome, Type 1

Anatomical Context for Simpson-Golabi-Behmel Syndrome, Type 1

MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome, Type 1:

42
Kidney, Skin, Bone, Pancreatic Islet

Publications for Simpson-Golabi-Behmel Syndrome, Type 1

Articles related to Simpson-Golabi-Behmel Syndrome, Type 1:

# Title Authors Year
1
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. ( 30048822 )
2018
2
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. ( 30158844 )
2018
3
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
4
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
5
Simpson-Golabi-Behmel Syndrome Type 1 ( 20301398 )
1993

Variations for Simpson-Golabi-Behmel Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Simpson-Golabi-Behmel Syndrome, Type 1:

76
# Symbol AA change Variation ID SNP ID
1 GPC3 p.Trp296Arg VAR_021385 rs104894854

ClinVar genetic disease variations for Simpson-Golabi-Behmel Syndrome, Type 1:

6 (show all 24)
# 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 Likely pathogenic rs267606850 GRCh37 Chromosome X, 132670229: 132670229
17 GPC3 NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg) single nucleotide variant Likely 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 GRCh37 Chromosome X, 132670203: 132670203
20 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh38 Chromosome X, 133536175: 133536175
21 GPC3 NM_001164617.1(GPC3): c.1563C> A (p.Cys521Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 133596519: 133596519
22 GPC3 NM_001164617.1(GPC3): c.1563C> A (p.Cys521Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 132730547: 132730547
23 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 71124812: 71124812
24 MED12 NM_005120.3(MED12): c.2023C> T (p.Leu675Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 70344662: 70344662

Expression for Simpson-Golabi-Behmel Syndrome, Type 1

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome, Type 1.

Pathways for Simpson-Golabi-Behmel Syndrome, Type 1

Pathways related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 ACAN CD44 COL2A1
2
Show member pathways
12.3 ACAN CD44 GPC1 GPC3 GPC4
3
Show member pathways
12.28 GPC1 GPC3 GPC4
4
Show member pathways
12.07 ACAN GPC1 GPC3 GPC4
5
Show member pathways
12 CD44 GPC1 GPC3
6
Show member pathways
11.91 GPC1 GPC3 GPC4
7 11.85 CD44 GPC1 GPC3
8
Show member pathways
11.6 ACAN GPC1 GPC3
9 11.32 ACAN COL2A1
10 11.26 CD44 COL2A1
11
Show member pathways
11.09 ACAN GPC1 GPC3 GPC4
12 11.05 ACAN CD44
13 10.69 ACAN CD44 COL2A1

GO Terms for Simpson-Golabi-Behmel Syndrome, Type 1

Cellular components related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.78 ACAN COL2A1 GPC1 GPC4
2 extracellular space GO:0005615 9.67 COL2A1 DLG3 GPC1 GPC4
3 glutamatergic synapse GO:0098978 9.63 ACAN DLG3 GPC4
4 extracellular matrix GO:0031012 9.61 ACAN COL2A1 GPC1
5 anchored component of membrane GO:0031225 9.5 GPC1 GPC3 GPC4
6 basement membrane GO:0005604 9.49 ACAN COL2A1
7 Golgi lumen GO:0005796 9.46 ACAN GPC1 GPC3 GPC4
8 anchored component of plasma membrane GO:0046658 9.43 GPC1 GPC3 GPC4
9 intrinsic component of plasma membrane GO:0031226 9.4 GPC1 GPC3
10 lysosomal lumen GO:0043202 9.26 ACAN GPC1 GPC3 GPC4
11 collagen-containing extracellular matrix GO:0062023 9.02 ACAN COL2A1 GPC1 GPC3 GPC4

Biological processes related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.54 ACAN CD44 COL2A1
2 cartilage development GO:0051216 9.43 CD44 COL2A1
3 retinoid metabolic process GO:0001523 9.43 GPC1 GPC3 GPC4
4 collagen fibril organization GO:0030199 9.4 ACAN COL2A1
5 regulation of signal transduction GO:0009966 9.33 GPC1 GPC3 GPC4
6 cartilage condensation GO:0001502 9.32 ACAN COL2A1
7 glycosaminoglycan biosynthetic process GO:0006024 9.13 GPC1 GPC3 GPC4
8 glycosaminoglycan catabolic process GO:0006027 8.8 GPC1 GPC3 GPC4

Molecular functions related to Simpson-Golabi-Behmel Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hyaluronic acid binding GO:0005540 8.62 ACAN CD44

Sources for Simpson-Golabi-Behmel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
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43 MedGen
45 MeSH
46 MESH via Orphanet
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50 NCI
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56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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