MCID: SMP007
MIFTS: 41

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 57 13
Simpson Dysmorphia Syndrome 57 59 75
Golabi-Rosen Syndrome 57 59 75
Sgbs1 57 59 75
Dgsx 57 59 75
Sdys 57 59 75
Simpson-Golabi-Behmel Syndrome Type 1 24 59
Bulldog Syndrome 57 75
Sgbs 57 59
Dysplasia Gigantism Syndrome, X-Linked; Dgsx 57
Syndrome, Simpson-Golabi-Behmel, Type 1 40
Dysplasia Gigantism Syndrome, X-Linked 57
X-Linked Dysplasia Gigantism Syndrome 59
Dysplasia Gigantism Syndrome X-Linked 75
Simpson Dysmorphia Syndrome; Sdys 57
Simpson-Golabi-Behmel Syndrome 1 75
Simpson-Golabi-Behmel Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
simpson-golabi-behmel syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
simpson-golabi-behmel syndrome, type 1:
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance To date, all males with a gpc3 pathogenic variant have had clinical findings of sgbs1 [authors, personal observation]...

Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

OMIM : 57 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 dysmorphia syndrome, is related to simpson-golabi-behmel syndrome and hepatoblastoma. 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, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 75 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:

# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 31.6 GPC3 GPC4
2 hepatoblastoma 10.3
3 perlman syndrome 9.3 GPC3 GPC4
4 wilms tumor 1 9.0 GPC3 GPC4

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

Symptoms via clinical synopsis from OMIM:

57
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
AbdomenSpleen:
splenomegaly
polysplenia

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

GenitourinaryInternal GenitaliaMale:
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

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

59 32 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 Very frequent (99-80%) HP:0000316
3 pectus excavatum 59 32 Frequent (79-30%) HP:0000767
4 agenesis of corpus callosum 59 32 Occasional (29-5%) HP:0001274
5 muscular hypotonia 59 32 Occasional (29-5%) HP:0001252
6 scoliosis 59 32 Frequent (79-30%) HP:0002650
7 inguinal hernia 59 32 Frequent (79-30%) HP:0000023
8 macroglossia 59 32 Very frequent (99-80%) HP:0000158
9 coarse facial features 59 32 Very frequent (99-80%) HP:0000280
10 splenomegaly 59 32 Very frequent (99-80%) HP:0001744
11 hepatomegaly 59 32 Very frequent (99-80%) HP:0002240
12 wide nasal bridge 59 32 Frequent (79-30%) HP:0000431
13 umbilical hernia 59 32 Frequent (79-30%) HP:0001537
14 short nose 59 32 Frequent (79-30%) HP:0003196
15 anteverted nares 59 32 Frequent (79-30%) HP:0000463
16 broad thumb 59 32 Frequent (79-30%) HP:0011304
17 cleft palate 59 32 Frequent (79-30%) HP:0000175
18 epicanthus 59 32 Occasional (29-5%) HP:0000286
19 short foot 59 32 Very frequent (99-80%) HP:0001773
20 cryptorchidism 59 32 Very frequent (99-80%) HP:0000028
21 cardiomyopathy 59 32 Occasional (29-5%) HP:0001638
22 wide mouth 59 32 Very frequent (99-80%) HP:0000154
23 hypospadias 59 32 Occasional (29-5%) HP:0000047
24 small nail 59 32 Frequent (79-30%) HP:0001792
25 downslanted palpebral fissures 59 32 Frequent (79-30%) HP:0000494
26 ventricular septal defect 59 32 Very frequent (99-80%) HP:0001629
27 talipes equinovarus 59 32 Occasional (29-5%) HP:0001762
28 vertebral segmentation defect 59 32 Very frequent (99-80%) HP:0003422
29 postaxial hand polydactyly 59 32 Very frequent (99-80%) HP:0001162
30 nephroblastoma 59 32 Occasional (29-5%) HP:0002667
31 congenital diaphragmatic hernia 59 32 Occasional (29-5%) HP:0000776
32 accelerated skeletal maturation 59 32 Occasional (29-5%) HP:0005616
33 supernumerary nipple 59 32 Very frequent (99-80%) HP:0002558
34 broad foot 32 59 Very frequent (99-80%) HP:0001769
35 polysplenia 59 32 Occasional (29-5%) HP:0001748
36 pancreatic islet-cell hyperplasia 59 32 Occasional (29-5%) HP:0004510
37 short neck 59 Frequent (79-30%)
38 finger syndactyly 59 Frequent (79-30%)
39 hydrocephalus 32 HP:0000238
40 intellectual disability 59 Occasional (29-5%)
41 seizures 59 Occasional (29-5%)
42 neurological speech impairment 59 Frequent (79-30%)
43 mandibular prognathia 59 Very frequent (99-80%)
44 hearing impairment 32 HP:0000365
45 dental malocclusion 32 HP:0000689
46 global developmental delay 59 Occasional (29-5%)
47 depressed nasal bridge 32 HP:0005280
48 abnormality of the helix 59 Frequent (79-30%)
49 arrhythmia 32 HP:0011675
50 hypoglycemia 59 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

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

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

41
Heart, Kidney, Lung, 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
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:

75
# 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 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, 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 GPC3 GPC4
2
Show member pathways
11.86 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:

# Name GO ID Score Top Affiliating Genes
1 anchored component of membrane GO:0031225 9.26 GPC3 GPC4
2 Golgi lumen GO:0005796 9.16 GPC3 GPC4
3 lysosomal lumen GO:0043202 8.96 GPC3 GPC4
4 anchored component of plasma membrane GO:0046658 8.62 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 anatomical structure morphogenesis GO:0009653 9.37 GPC3 GPC4
2 retinoid metabolic process GO:0001523 9.32 GPC3 GPC4
3 regulation of signal transduction GO:0009966 9.26 GPC3 GPC4
4 glycosaminoglycan biosynthetic process GO:0006024 9.16 GPC3 GPC4
5 glycosaminoglycan metabolic process GO:0030203 8.96 GPC3 GPC4
6 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:

# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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45 MESH via Orphanet
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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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