MCID: SMP007
MIFTS: 35

Simpson-Golabi-Behmel Syndrome, Type 1

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Rare diseases, Mental 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 54 13
Simpson-Golabi-Behmel Syndrome Type 1 23 24 56
Sgbs1 24 56 71
Simpson Dysmorphia Syndrome 56 71
Golabi-Rosen Syndrome 56 71
Dgsx 56 71
Sdys 56 71
X-Linked Dysplasia Gigantism Syndrome 56
Dysplasia Gigantism Syndrome X-Linked 71
Simpson-Golabi-Behmel Syndrome 1 71
Simpson-Golabi-Behmel Syndrome 56
Bulldog Syndrome 71
Sgbs 56

Characteristics:

Orphanet epidemiological data:

56
simpson-golabi-behmel syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
x-linked recessive


GeneReviews:

23
Penetrance To date, all males with a gpc3 pathogenic variant have had clinical findings of sgbs1 [authors, personal observation]...

Classifications:



External Ids:

OMIM 54 312870
Orphanet 56 ORPHA373
MESH via Orphanet 43 C537340
UMLS via Orphanet 70 C0796154
ICD10 via Orphanet 34 Q87.3
MedGen 40 C0796154
MeSH 42 D001848

Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

OMIM : 54
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 gpc3-related simpson-golabi-behmel syndrome type 1 and gpc4-related simpson-golabi-behmel syndrome type 1, and has symptoms including scoliosis, macroglossia and wide mouth. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 1 is GPC3 (Glypican 3), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include heart, kidney and lung.

UniProtKB/Swiss-Prot : 71 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

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

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Spine:
scoliosis
vertebral segmentation defects
fusion of c2-c3 posterior elements
six lumbar vertebrae
sacral defects
more
Head And Neck- Face:
coarse facies

Skeletal- Hands:
broad thumbs
postaxial polydactyly
distal phalangeal hypoplasia
short broad hands
syndactyly 2nd-3rd fingers
more
Abdomen- Spleen:
splenomegaly
polysplenia

Head And Neck- Ears:
hearing loss
preauricular tags
preauricular pits

Genitourinary- External Genitalia Male:
hypospadias
inguinal hernia

Prenatal Manifestations:
nuchal translucency

Head And Neck- Head:
macrocephaly

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

Abdomen- Gastroin testinal:
meckel diverticulum
intestinal malrotation

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

Chest- Diaphragm:
diaphragmatic hernia

Head And Neck- Teeth:
dental malocclusion

Chest- Breasts:
supernumerary nipples

Growth- Weight:
birth weight greater than 97th percentile

Respiratory- Lung:
lung segmentation defects

Skeletal- Pelvis:
flared iliac wing
narrow sacroiliac notches in infancy

Skin Nails & Hair- Nails:
fingernail hypoplasia

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

Head And Neck- Mouth:
macroglossia
cleft palate
macrostomia
broad secondary alveolar ridge
midline groove of lower lip
more
Abdomen- Liver:
hepatomegaly

Head And Neck- Eyes:
downslanting palpebral fissures
epicanthal folds
hypertelorism

Cardiovascular- Vascular:
patent ductus arteriosus
transposition of great vessels

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

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

Genitourinary- Kidneys:
cystic kidneys
large kidneys
duplication of renal pelvis

Neoplasia:
wilms tumor
embryonal tumors

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

Abdomen- External Features:
diastasis recti
umbilical hernias

Skeletal:
advanced bone age

Prenatal Manifestations- Maternal:
increased alpha-fetoprotein

Growth- Other:
birth head circumference greater than 97th percentile

Abdomen- Pancreas:
hyperplastic islets of langerhans

Skin Nails & Hair- Skin:
coccygeal skin tags


Clinical features from OMIM:

312870

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

56 32 (show top 50) (show all 80)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 Frequent (79-30%)
2 macroglossia 56 Very frequent (99-80%)
3 wide mouth 56 Very frequent (99-80%)
4 umbilical hernia 56 Frequent (79-30%)
5 hepatomegaly 56 Very frequent (99-80%)
6 splenomegaly 56 Very frequent (99-80%)
7 seizures 56 Occasional (29-5%)
8 coarse facial features 56 Very frequent (99-80%)
9 hypertelorism 56 Very frequent (99-80%)
10 cleft palate 56 Frequent (79-30%)
11 hypospadias 56 Occasional (29-5%)
12 ureteral duplication 56 Frequent (79-30%)
13 polyhydramnios 56 Frequent (79-30%)
14 short nose 56 Frequent (79-30%)
15 anteverted nares 56 Frequent (79-30%)
16 global developmental delay 56 Occasional (29-5%)
17 hydronephrosis 56 Frequent (79-30%)
18 cryptorchidism 56 Very frequent (99-80%)
19 talipes equinovarus 56 Occasional (29-5%)
20 short neck 56 Frequent (79-30%)
21 macrocephaly 56 Very frequent (99-80%)
22 inguinal hernia 56 Frequent (79-30%)
23 intellectual disability 56 Occasional (29-5%)
24 hypoglycemia 56 Frequent (79-30%)
25 ventricular septal defect 56 Very frequent (99-80%)
26 cardiomyopathy 56 Occasional (29-5%)
27 omphalocele 56 Frequent (79-30%)
28 agenesis of corpus callosum 56 Occasional (29-5%)
29 wide nasal bridge 56 Frequent (79-30%)
30 webbed neck 56 Frequent (79-30%)
31 pectus excavatum 56 Frequent (79-30%)
32 finger syndactyly 56 Frequent (79-30%)
33 toe syndactyly 56 Frequent (79-30%)
34 dandy-walker malformation 56 Occasional (29-5%)
35 downslanted palpebral fissures 56 Frequent (79-30%)
36 low-set, posteriorly rotated ears 56 Frequent (79-30%)
37 congenital hip dislocation 56 Occasional (29-5%)
38 tall stature 56 Very frequent (99-80%)
39 hydroureter 56 Frequent (79-30%)
40 epicanthus 56 Occasional (29-5%)
41 muscular hypotonia 56 Occasional (29-5%)
42 neuroblastoma 56 Occasional (29-5%)
43 death in infancy 56 Frequent (79-30%)
44 polysplenia 56 Occasional (29-5%)
45 nail dysplasia 56 Frequent (79-30%)
46 hoarse voice 56 Occasional (29-5%)
47 congenital diaphragmatic hernia 56 Occasional (29-5%)
48 hepatoblastoma 56 Occasional (29-5%)
49 broad thumb 56 Frequent (79-30%)
50 high, narrow palate 56 Frequent (79-30%)

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

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

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

Genetic tests related to Simpson-Golabi-Behmel Syndrome, Type 1:

id Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome Type 1 24 GPC4

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

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

39
Heart, Kidney, Lung, Bone, Skin, Pancreatic Islet

Publications for Simpson-Golabi-Behmel Syndrome, Type 1

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

id Title Authors Year
1
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. ( 23463737 )
2013
2
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
3
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:

71
id 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 11)
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
11 GPC3 NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs) deletion Likely pathogenic rs886039908 GRCh37 Chromosome X, 132670203: 132670203

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 GPC3 GPC4
2
Show member pathways
11.87 GPC3 GPC4
3
Show member pathways
11.66 GPC3 GPC4
4
Show member pathways
11.29 GPC3 GPC4
5
Show member pathways
10.79 GPC3 GPC4

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:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.26 GPC3 GPC4
2 anchored component of membrane GO:0031225 9.16 GPC3 GPC4
3 Golgi lumen GO:0005796 8.96 GPC3 GPC4
4 lysosomal lumen GO:0043202 8.62 GPC3 GPC4

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

id Name GO ID Score Top Affiliating Genes
1 anatomical structure morphogenesis GO:0009653 9.32 GPC3 GPC4
2 retinoid metabolic process GO:0001523 9.26 GPC3 GPC4
3 glycosaminoglycan biosynthetic process GO:0006024 9.16 GPC3 GPC4
4 glycosaminoglycan metabolic process GO:0030203 8.96 GPC3 GPC4
5 glycosaminoglycan catabolic process GO:0006027 8.62 GPC3 GPC4

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

id Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan binding GO:0043395 8.62 GPC3 GPC4

Sources for Simpson-Golabi-Behmel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
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33 ICD10
34 ICD10 via Orphanet
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43 MESH via Orphanet
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59 PubMed
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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