MCID: SMP007
MIFTS: 40

Simpson-Golabi-Behmel Syndrome, Type 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Nephrological diseases, Fetal 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 53 13
Simpson Dysmorphia Syndrome 53 55 71
Golabi-Rosen Syndrome 53 55 71
Sgbs1 53 55 71
Dgsx 53 55 71
Sdys 53 55 71
Simpson-Golabi-Behmel Syndrome Type 1 23 55
Bulldog Syndrome 53 71
Sgbs 53 55
Dysplasia Gigantism Syndrome, X-Linked; Dgsx 53
Dysplasia Gigantism Syndrome, X-Linked 53
X-Linked Dysplasia Gigantism Syndrome 55
Dysplasia Gigantism Syndrome X-Linked 71
Simpson Dysmorphia Syndrome; Sdys 53
Simpson-Golabi-Behmel Syndrome 1 71
Simpson-Golabi-Behmel Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
simpson-golabi-behmel syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

53
Inheritance:
x-linked recessive


HPO:

31
simpson-golabi-behmel syndrome, type 1:
Inheritance x-linked recessive inheritance


GeneReviews:

23
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 : 53 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, and has symptoms including macrocephaly, hypertelorism and pectus excavatum. 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

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 32.1 GPC3 GPC4
2 hepatoblastoma 10.3
3 wilms tumor 1 9.4 GPC3 GPC4

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

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly

Chest RibsSternum 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 Gastroin testinal:
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:

55 31 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 Very frequent (99-80%) HP:0000256
2 hypertelorism 55 31 Very frequent (99-80%) HP:0000316
3 pectus excavatum 55 31 Frequent (79-30%) HP:0000767
4 agenesis of corpus callosum 55 31 Occasional (29-5%) HP:0001274
5 scoliosis 55 31 Frequent (79-30%) HP:0002650
6 inguinal hernia 55 31 Frequent (79-30%) HP:0000023
7 macroglossia 55 31 Very frequent (99-80%) HP:0000158
8 coarse facial features 55 31 Very frequent (99-80%) HP:0000280
9 splenomegaly 55 31 Very frequent (99-80%) HP:0001744
10 hepatomegaly 55 31 Very frequent (99-80%) HP:0002240
11 wide nasal bridge 55 31 Frequent (79-30%) HP:0000431
12 umbilical hernia 55 31 Frequent (79-30%) HP:0001537
13 short nose 55 31 Frequent (79-30%) HP:0003196
14 anteverted nares 55 31 Frequent (79-30%) HP:0000463
15 broad thumb 55 31 Frequent (79-30%) HP:0011304
16 cleft palate 55 31 Frequent (79-30%) HP:0000175
17 epicanthus 55 31 Occasional (29-5%) HP:0000286
18 short foot 55 31 Very frequent (99-80%) HP:0001773
19 cryptorchidism 55 31 Very frequent (99-80%) HP:0000028
20 cardiomyopathy 55 31 Occasional (29-5%) HP:0001638
21 wide mouth 55 31 Very frequent (99-80%) HP:0000154
22 hypospadias 55 31 Occasional (29-5%) HP:0000047
23 small nail 55 31 Frequent (79-30%) HP:0001792
24 downslanted palpebral fissures 55 31 Frequent (79-30%) HP:0000494
25 ventricular septal defect 55 31 Very frequent (99-80%) HP:0001629
26 talipes equinovarus 55 31 Occasional (29-5%) HP:0001762
27 vertebral segmentation defect 55 31 Very frequent (99-80%) HP:0003422
28 postaxial hand polydactyly 55 31 Very frequent (99-80%) HP:0001162
29 nephroblastoma 55 31 Occasional (29-5%) HP:0002667
30 congenital diaphragmatic hernia 55 31 Occasional (29-5%) HP:0000776
31 accelerated skeletal maturation 55 31 Occasional (29-5%) HP:0005616
32 supernumerary nipple 55 31 Very frequent (99-80%) HP:0002558
33 broad foot 55 31 Very frequent (99-80%) HP:0001769
34 polysplenia 55 31 Occasional (29-5%) HP:0001748
35 pancreatic islet-cell hyperplasia 55 31 Occasional (29-5%) HP:0004510
36 seizures 55 Occasional (29-5%)
37 short neck 55 Frequent (79-30%)
38 finger syndactyly 55 Frequent (79-30%)
39 hydrocephalus 31 HP:0000238
40 intellectual disability 55 Occasional (29-5%)
41 muscular hypotonia 55 Occasional (29-5%)
42 neurological speech impairment 55 Frequent (79-30%)
43 mandibular prognathia 55 Very frequent (99-80%)
44 hearing impairment 31 HP:0000365
45 dental malocclusion 31 HP:0000689
46 global developmental delay 55 Occasional (29-5%)
47 depressed nasal bridge 31 HP:0005280
48 abnormality of the helix 55 Frequent (79-30%)
49 arrhythmia 31 HP:0011675
50 hypoglycemia 55 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:

38
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:

71
# 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)
# 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:

# 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:

# 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:

# 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:

# 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
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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70 UMLS via Orphanet
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