SGBS1
MCID: SMP007
MIFTS: 51

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

Categories: Bone diseases, Fetal diseases, Genetic 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 56 13
Simpson-Golabi-Behmel Syndrome Type 1 12 24 58 15
Simpson Dysmorphia Syndrome 56 12 58 73
Golabi-Rosen Syndrome 56 12 58 73
Bulldog Syndrome 56 12 73
Sgbs1 56 58 73
Dgsx 56 58 73
Sdys 56 58 73
X-Linked Dysplasia Gigantism Syndrome 12 58
Simpson-Golabi-Behmel Syndrome 58 43
Sgbs 56 58
Dysplasia Gigantism Syndrome, X-Linked; Dgsx 56
Syndrome, Simpson-Golabi-Behmel, Type 1 39
Dysplasia Gigantism Syndrome, X-Linked 56
Dysplasia Gigantism Syndrome X-Linked 73
Simpson Dysmorphia Syndrome; Sdys 56
Simpson-Golabi-Behmel Syndrome 1 73
Dgsx Golabi-Rosen Syndrome 12
Sara Angers Syndrome 12
Sgb Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
simpson-golabi-behmel syndrome
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive


HPO:

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


GeneReviews:

24
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:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

OMIM : 56 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 Chondroitin sulfate/dermatan sulfate metabolism and Wnt signaling pathway. The drug Ethanol has been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and lung, and related phenotypes are macroglossia and coarse facial features

Disease Ontology : 12 A syndrome 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 : 73 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 top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 33.0 OFD1 GPC4 GPC3
2 simpson-golabi-behmel syndrome, type 2 13.3
3 diaphragmatic hernia, congenital 10.9
4 beckwith-wiedemann syndrome 10.8
5 hypertelorism 10.8
6 cryptorchidism, unilateral or bilateral 10.8
7 neuroblastoma 10.8
8 overgrowth syndrome 10.7
9 sotos syndrome 1 10.7
10 fryns syndrome 10.7
11 omphalocele 10.7
12 hypospadias 10.7
13 macroglossia 10.6
14 polydactyly 10.6
15 macrostomia, isolated 10.6
16 alacrima, achalasia, and mental retardation syndrome 10.6
17 hepatoblastoma 10.6
18 hypoglycemia 10.6
19 attention deficit-hyperactivity disorder 10.6
20 nipples, supernumerary 10.6
21 perlman syndrome 10.6
22 craniosynostosis 10.6
23 polyhydramnios 10.6
24 hypotonia 10.6
25 cleft lip/palate 10.6
26 renal dysplasia 10.6
27 cleft palate, isolated 10.5
28 medulloblastoma 10.5
29 chromosome 2q35 duplication syndrome 10.5
30 gonadoblastoma 10.5
31 wilms tumor 5 10.5
32 sleep apnea 10.5
33 scoliosis 10.5
34 umbilical hernia 10.5
35 hypothyroidism 10.5
36 adrenal neuroblastoma 10.5
37 cleft lip 10.5
38 apnea, obstructive sleep 10.5
39 hepatocellular carcinoma 10.5
40 meckel diverticulum 10.5
41 pulmonic stenosis 10.5
42 orofaciodigital syndrome i 10.5
43 yemenite deaf-blind hypopigmentation syndrome 10.5
44 pallister-killian syndrome 10.5
45 branchiootic syndrome 1 10.5
46 bile duct cysts 10.5
47 leukemia, acute lymphoblastic 10.5
48 congenital hypothyroidism 10.5
49 oppositional defiant disorder 10.5
50 ameloblastoma 10.5

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:

58 31 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 Very frequent (99-80%) HP:0000158
2 coarse facial features 58 31 Very frequent (99-80%) HP:0000280
3 splenomegaly 58 31 Very frequent (99-80%) HP:0001744
4 hepatomegaly 58 31 Very frequent (99-80%) HP:0002240
5 inguinal hernia 58 31 Frequent (79-30%) HP:0000023
6 hypertelorism 58 31 Very frequent (99-80%) HP:0000316
7 muscular hypotonia 58 31 Occasional (29-5%) HP:0001252
8 scoliosis 58 31 Frequent (79-30%) HP:0002650
9 macrocephaly 58 31 Very frequent (99-80%) HP:0000256
10 wide nasal bridge 58 31 Frequent (79-30%) HP:0000431
11 umbilical hernia 58 31 Frequent (79-30%) HP:0001537
12 short nose 58 31 Frequent (79-30%) HP:0003196
13 anteverted nares 58 31 Frequent (79-30%) HP:0000463
14 broad thumb 58 31 Frequent (79-30%) HP:0011304
15 cleft palate 58 31 Frequent (79-30%) HP:0000175
16 cryptorchidism 58 31 Very frequent (99-80%) HP:0000028
17 epicanthus 58 31 Occasional (29-5%) HP:0000286
18 pectus excavatum 58 31 Frequent (79-30%) HP:0000767
19 talipes equinovarus 58 31 Occasional (29-5%) HP:0001762
20 wide mouth 58 31 Very frequent (99-80%) HP:0000154
21 downslanted palpebral fissures 58 31 Frequent (79-30%) HP:0000494
22 hypospadias 58 31 Occasional (29-5%) HP:0000047
23 ventricular septal defect 58 31 Very frequent (99-80%) HP:0001629
24 vertebral segmentation defect 58 31 Very frequent (99-80%) HP:0003422
25 congenital diaphragmatic hernia 58 31 Occasional (29-5%) HP:0000776
26 agenesis of corpus callosum 58 31 Occasional (29-5%) HP:0001274
27 nephroblastoma 58 31 Occasional (29-5%) HP:0002667
28 accelerated skeletal maturation 58 31 Occasional (29-5%) HP:0005616
29 postaxial hand polydactyly 58 31 Very frequent (99-80%) HP:0001162
30 short foot 58 31 Very frequent (99-80%) HP:0001773
31 supernumerary nipple 58 31 Very frequent (99-80%) HP:0002558
32 broad foot 58 31 Very frequent (99-80%) HP:0001769
33 cardiomyopathy 58 31 Occasional (29-5%) HP:0001638
34 polysplenia 58 31 Occasional (29-5%) HP:0001748
35 small nail 58 31 Frequent (79-30%) HP:0001792
36 pancreatic islet-cell hyperplasia 58 31 Occasional (29-5%) HP:0004510
37 hearing impairment 31 HP:0000365
38 intellectual disability 58 Occasional (29-5%)
39 global developmental delay 58 Occasional (29-5%)
40 depressed nasal bridge 31 HP:0005280
41 short neck 58 Frequent (79-30%)
42 abnormality of the helix 58 Frequent (79-30%)
43 mandibular prognathia 58 Very frequent (99-80%)
44 dental malocclusion 31 HP:0000689
45 seizures 58 Occasional (29-5%)
46 neurological speech impairment 58 Frequent (79-30%)
47 hydrocephalus 31 HP:0000238
48 arrhythmia 31 HP:0011675
49 hypoglycemia 58 Frequent (79-30%)
50 aplasia/hypoplasia of the abdominal wall musculature 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
cleft palate
submucous cleft lip
broad secondary alveolar ridge
macrostomia
more
Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds

Head And Neck Head:
macrocephaly

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

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
patent ductus arteriosus
transposition of great vessels

Abdomen Gastrointestinal:
intestinal malrotation
meckel diverticulum

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

Genitourinary Kidneys:
duplication of renal pelvis
large kidneys
cystic kidneys

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

Abdomen Spleen:
splenomegaly
polysplenia

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Skeletal Spine:
scoliosis
six lumbar vertebrae
vertebral segmentation defects
fusion of c2-c3 posterior elements
sacral defects
more
Head And Neck Teeth:
dental malocclusion

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

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

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

Respiratory Lung:
lung segmentation defects

Abdomen External Features:
diastasis recti
umbilical hernias

Skeletal Hands:
postaxial polydactyly
two carpal ossification centers present at birth
short broad hands
broad thumbs
distal phalangeal hypoplasia
more
Skeletal:
advanced bone age

Chest Breasts:
supernumerary nipples

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

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

MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CLCNKA COL2A1 ECEL1 GPC3 HIC2 IFT172
2 embryo MP:0005380 9.8 COL2A1 DLG3 GPC3 HIC2 IFT172 OFD1
3 limbs/digits/tail MP:0005371 9.65 COL2A1 GPC3 IFT172 OFD1 RFLNB
4 renal/urinary system MP:0005367 9.55 CLCNKA COL2A1 GPC3 IFT172 OFD1
5 respiratory system MP:0005388 9.35 COL2A1 ECEL1 GPC3 IFT172 OFD1
6 skeleton MP:0005390 9.23 CLCNKA COL2A1 DLG3 ECEL1 GPC3 IFT172

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

Drugs for Simpson-Golabi-Behmel Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Sham-procedure-controlled, Blinded Study to Evaluate the Effectiveness and Acceptability of Right-sided Stellate Ganglion Block for Treatment of Posttraumatic Stress Disorder Symptoms - Acceptability Completed NCT03302312

Search 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:

40
Heart, Kidney, Lung, Skin, Bone, Pancreatic Islet, Liver

Publications for Simpson-Golabi-Behmel Syndrome, Type 1

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

(show top 50) (show all 75)
# Title Authors PMID Year
1
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. 56 6 24
17850639 2007
2
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. 56 6
18203194 2008
3
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. 56 6
16158429 2005
4
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. 56 6
9950367 1999
5
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. 24 56
20950395 2011
6
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. 24 56
21204223 2011
7
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. 24 56
21082656 2010
8
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. 56 24
20683991 2010
9
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. 24 56
11477610 2001
10
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. 24 6
10814714 2000
11
Choledochal cyst in Simpson-Golabi-Behmel syndrome. 24 56
10564884 1999
12
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. 56 24
10232747 1999
13
GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome. 24 56
9787072 1998
14
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. 56 24
8589713 1996
15
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. 56 24
8599356 1995
16
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. 24 56
8209925 1994
17
Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. 56 24
8322824 1993
18
A new X-linked mental retardation-overgrowth syndrome. 24 56
6538755 1984
19
A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? 24 56
6490008 1984
20
Simpson-Golabi-Behmel Syndrome Type 1 61 6
20301398 2006
21
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. 24 61
30048822 2019
22
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. 56
19842194 2009
23
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. 6
19215053 2009
24
GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. 56
17603795 2007
25
Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome. 56
17497720 2007
26
Wilms Tumor Predisposition 6
20301471 2003
27
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. 56
9781908 1998
28
Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall. 56
7554352 1995
29
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 56
8209924 1994
30
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. 56
7909248 1994
31
The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. 56
1479609 1992
32
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. 56
1456279 1992
33
Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. 56
1456280 1992
34
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. 56
1605222 1992
35
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias. 56
2018065 1991
36
A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family. 56
3177454 1988
37
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 56
3177455 1988
38
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. 56
3177456 1988
39
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. 56
3706412 1986
40
The Golabi-Rosen syndrome. 56
6542751 1984
41
The Golabi-Rosen syndrome--report of a second family. 56
6538756 1984
42
A Weaver-like syndrome in a Japanese boy. 56
6705243 1984
43
An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97. 56
4139001 1974
44
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 24
29637653 2018
45
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. 24
28674120 2017
46
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. 24
28469860 2017
47
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. 24
27739211 2017
48
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. 24
27589329 2016
49
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. 24
26847959 2016
50
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. 24
26915941 2016

Variations for Simpson-Golabi-Behmel Syndrome, Type 1

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

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 subset of 11 genes: FRMD7 , GPC3 GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)copy number loss Pathogenic 625800 X:130280298-132670366
2 GPC3 NM_001164619.2(GPC3):c.175+32082_175+32094deldeletion Pathogenic 11685 rs869025181 X:133087208-133087220 X:133953181-133953193
3 GPC3 NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)deletion Pathogenic 11686
4 GPC3 NM_004484.3(GPC3):c.886T>A (p.Trp296Arg)SNV Pathogenic 11687 rs104894854 X:132887655-132887655 X:133753628-133753628
5 GPC3 NM_004484.3(GPC3):c.1292+1G>TSNV Pathogenic 11688 rs869025182 X:132826396-132826396 X:133692368-133692368
6 GPC3 NM_004484.3(GPC3):c.595C>T (p.Arg199Ter)SNV Pathogenic 11689 rs104894855 X:132887946-132887946 X:133753919-133753919
7 GPC3 NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)deldeletion Pathogenic 11692 X:132795703-132795954 X:133661675-133661926
8 GPC3 NM_004484.3(GPC3):c.337+1G>ASNV Pathogenic 11693 rs869025183 X:133087076-133087076 X:133953049-133953049
9 GPC3 NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter)SNV Pathogenic 11694 rs122453121 X:132833930-132833930 X:133699902-133699902
10 GPC3 GRCh37/hg19 Xq26.2(chrX:132834006-132986815)copy number loss Pathogenic 224615 X:132834006-132986815
11 GPC3 NM_004484.3(GPC3):c.1692del (p.Leu565fs)deletion Likely pathogenic 266113 rs886039908 X:132670203-132670203 X:133536175-133536175
12 GPC3 NM_004484.3(GPC3):c.974C>A (p.Ser325Ter)SNV Likely pathogenic 562012 rs1569426054 X:132887567-132887567 X:133753540-133753540
13 GPC3 NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter)SNV Likely pathogenic 617901 rs753210097 X:132730547-132730547 X:133596519-133596519
14 GPC3 NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg)SNV Likely pathogenic 11695 rs267606850 X:132670229-132670229 X:133536201-133536201
15 MED12 NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)SNV Uncertain significance 619996 rs1307587368 X:70344662-70344662 X:71124812-71124812
16 GPC3 NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro)SNV Uncertain significance 543089 rs1015207544 X:132730473-132730473 X:133596445-133596445

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

73
# Symbol AA change Variation ID SNP ID
1 GPC3 p.Trp296Arg VAR_021385 rs104894854

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
11.94 GPC4 GPC3 GPC1
2
Show member pathways
11.77 GPC4 GPC3 GPC1
3
Show member pathways
11.46 GPC4 GPC3 GPC1
4
Show member pathways
10.96 GPC4 GPC3 GPC1

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 collagen-containing extracellular matrix GO:0062023 9.56 GPC4 GPC3 GPC1 COL2A1
2 anchored component of membrane GO:0031225 9.5 GPC4 GPC3 GPC1
3 intrinsic component of plasma membrane GO:0031226 9.37 GPC3 GPC1
4 Golgi lumen GO:0005796 9.33 GPC4 GPC3 GPC1
5 lysosomal lumen GO:0043202 9.13 GPC4 GPC3 GPC1
6 anchored component of plasma membrane GO:0046658 8.8 GPC4 GPC3 GPC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.61 GPC4 GPC3 GPC1
2 roof of mouth development GO:0060021 9.51 IFT172 COL2A1
3 retinoid metabolic process GO:0001523 9.5 GPC4 GPC3 GPC1
4 negative regulation of epithelial cell proliferation GO:0050680 9.49 IFT172 GPC3
5 bone development GO:0060348 9.48 IFT172 COL2A1
6 skeletal system morphogenesis GO:0048705 9.46 RFLNB COL2A1
7 regulation of signal transduction GO:0009966 9.43 GPC4 GPC3 GPC1
8 positive regulation of smoothened signaling pathway GO:0045880 9.4 IFT172 GPC3
9 negative regulation of smoothened signaling pathway GO:0045879 9.37 IFT172 GPC3
10 glycosaminoglycan biosynthetic process GO:0006024 9.33 GPC4 GPC3 GPC1
11 glycosaminoglycan catabolic process GO:0006027 9.13 GPC4 GPC3 GPC1
12 regulation of protein localization to membrane GO:1905475 8.8 GPC4 GPC3 GPC1

Sources for Simpson-Golabi-Behmel Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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