SGBS1
MCID: SMP007
MIFTS: 54

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 57 13
Simpson-Golabi-Behmel Syndrome Type 1 12 25 58 29 6 15
Simpson Dysmorphia Syndrome 57 12 58 73
Golabi-Rosen Syndrome 57 12 58 73
Bulldog Syndrome 57 12 73
Sgbs1 57 58 73
Dgsx 57 58 73
Sdys 57 58 73
X-Linked Dysplasia Gigantism Syndrome 12 58
Simpson-Golabi-Behmel Syndrome 58 44
Sgbs 57 58
Dysplasia Gigantism Syndrome, X-Linked; Dgsx 57
Syndrome, Simpson-Golabi-Behmel, Type 1 39
Dysplasia Gigantism Syndrome, X-Linked 57
Dysplasia Gigantism Syndrome X-Linked 73
Simpson Dysmorphia Syndrome; Sdys 57
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®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive


HPO:

31
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:

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


Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

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.

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 Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Bupivacaine and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, pancreatic islet and lung, and related phenotypes are macrocephaly and agenesis of corpus callosum

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.

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. (312870) (Updated 05-Mar-2021)

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 125)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome 32.5 MED12 GPC4 GPC3
2 simpson-golabi-behmel syndrome, type 2 12.1
3 diaphragmatic hernia, congenital 10.7
4 hypertelorism 10.6
5 overgrowth syndrome 10.6
6 beckwith-wiedemann syndrome 10.6
7 sotos syndrome 1 10.5
8 cryptorchidism, unilateral or bilateral 10.5
9 human immunodeficiency virus type 1 10.5
10 polyhydramnios 10.5
11 macroglossia 10.5
12 polydactyly 10.5
13 macrostomia, isolated 10.5
14 alacrima, achalasia, and mental retardation syndrome 10.5
15 hepatoblastoma 10.5
16 hypoglycemia 10.5
17 attention deficit-hyperactivity disorder 10.4
18 nipples, supernumerary 10.4
19 perlman syndrome 10.4
20 omphalocele 10.4
21 hypospadias 10.4
22 craniosynostosis 10.4
23 hypotonia 10.4
24 cleft lip/palate 10.4
25 renal dysplasia 10.4
26 cleft palate, isolated 10.3
27 medulloblastoma 10.3
28 chromosome 2q35 duplication syndrome 10.3
29 gonadoblastoma 10.3
30 sleep apnea 10.3
31 scoliosis 10.3
32 umbilical hernia 10.3
33 hypothyroidism 10.3
34 adrenal neuroblastoma 10.3
35 neuroblastoma 10.3
36 cleft lip 10.3
37 gigantism 10.3
38 apnea, obstructive sleep 10.3
39 hepatocellular carcinoma 10.3
40 type 2 diabetes mellitus 10.3
41 marfan syndrome 10.3
42 meckel diverticulum 10.3
43 triiodothyronine receptor auxiliary protein 10.3
44 pulmonic stenosis 10.3
45 orofaciodigital syndrome i 10.3
46 yemenite deaf-blind hypopigmentation syndrome 10.3
47 pallister-killian syndrome 10.3
48 branchiootic syndrome 1 10.3
49 bile duct cysts 10.3
50 leukemia, acute lymphoblastic 10.3

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 115)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 Very frequent (99-80%) HP:0000256
2 agenesis of corpus callosum 58 31 Occasional (29-5%) HP:0001274
3 scoliosis 58 31 Frequent (79-30%) HP:0002650
4 macroglossia 58 31 Very frequent (99-80%) HP:0000158
5 coarse facial features 58 31 Very frequent (99-80%) HP:0000280
6 splenomegaly 58 31 Very frequent (99-80%) HP:0001744
7 hepatomegaly 58 31 Very frequent (99-80%) HP:0002240
8 inguinal hernia 58 31 Frequent (79-30%) HP:0000023
9 hypertelorism 58 31 Very frequent (99-80%) HP:0000316
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 accelerated skeletal maturation 58 31 Occasional (29-5%) HP:0005616
27 nephroblastoma 58 31 Occasional (29-5%) HP:0002667
28 postaxial hand polydactyly 58 31 Very frequent (99-80%) HP:0001162
29 short foot 58 31 Very frequent (99-80%) HP:0001773
30 supernumerary nipple 58 31 Very frequent (99-80%) HP:0002558
31 broad foot 58 31 Very frequent (99-80%) HP:0001769
32 cardiomyopathy 58 31 Occasional (29-5%) HP:0001638
33 polysplenia 58 31 Occasional (29-5%) HP:0001748
34 small nail 58 31 Frequent (79-30%) HP:0001792
35 pancreatic islet-cell hyperplasia 58 31 Occasional (29-5%) HP:0004510
36 intellectual disability 58 Occasional (29-5%)
37 seizures 58 Occasional (29-5%)
38 neurological speech impairment 58 Frequent (79-30%)
39 hydrocephalus 31 HP:0000238
40 short neck 58 Frequent (79-30%)
41 muscular hypotonia 58 Occasional (29-5%)
42 hearing impairment 31 HP:0000365
43 global developmental delay 58 Occasional (29-5%)
44 depressed nasal bridge 31 HP:0005280
45 abnormality of the helix 58 Frequent (79-30%)
46 mandibular prognathia 58 Very frequent (99-80%)
47 dental malocclusion 31 HP:0000689
48 hypoglycemia 58 Frequent (79-30%)
49 malformation of the heart and great vessels 58 Frequent (79-30%)
50 aplasia/hypoplasia of the abdominal wall musculature 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Skeletal Spine:
scoliosis
six lumbar vertebrae
vertebral segmentation defects
fusion of c2-c3 posterior elements
sacral defects
more
Abdomen Spleen:
splenomegaly
polysplenia

Genitourinary External Genitalia Male:
inguinal hernia
hypospadias

Head And Neck Teeth:
dental malocclusion

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

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

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 Nose:
short nose
broad flat nasal bridge
upturned nose

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 (Updated 05-Mar-2021)

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):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
2 Antidepressive Agents Phase 4
3 Quetiapine Fumarate Phase 4 111974-72-2
4 Psychotropic Drugs Phase 4
5 Antipsychotic Agents Phase 4
6
Tamoxifen Approved Phase 2 10540-29-1 2733526
7 Anesthetics, Local Phase 2
8 Anesthetics Phase 2
9 Pharmaceutical Solutions Phase 2
10 Estrogens Phase 2
11 Estrogen Antagonists Phase 2
12 Estrogen Receptor Modulators Phase 2
13 Estrogen Receptor Antagonists Phase 2
14 Aromatase Inhibitors Phase 2
15
Lidocaine Approved, Vet_approved 137-58-6 3676
16
Ropivacaine Approved 84057-95-4 71273 175805

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Does Stellate Ganglion Blockade (SGB) in Men Treated for Prostate Cancer Improve Hot Flashes? A Pilot Prospective Cohort Study Recruiting NCT03796195 Phase 4 .5% Bupivacaine
2 CARE II - Evaluation of Treatment Outcomes in Schizophrenic Patients Taking Part in the Integrated Care Program - a Single-country, Multi-centre Phase IV Study Terminated NCT00681629 Phase 4 Quetiapine XR
3 Stellate Ganglion Blockade for the Management of Vasomotor Symptoms Recruiting NCT02907983 Phase 2 Stellate Ganglion Block Injection with Bupivicaine;Saline injection
4 Effects of Stellate Ganglion Block on Hot Flashes in Hispanic Women With Breast Cancer: A Pilot Randomized Sham-Controlled Trial Recruiting NCT03122301 Phase 2 Stellate Ganglion Block injection with bupivicaine;Saline
5 Effects of Stellate Ganglion Block (SGB) on Vasomotor Symptoms in Women Receiving Anti-Estrogen Therapy for Breast Cancer Active, not recruiting NCT02513329 Phase 2 Bupivicaine;Saline
6 Impact of Local Anesthetic Volume on Temperature Increase in the Upper Extremity During Ultrasound-guided Stellate Ganglion Block: A Prospective Randomized and Comparative Clinical Trial Completed NCT03401801
7 Offer and Mediation of §20 SGB V Health Prevention Programmes to Patients Through Their Treating General Practitioner - a Mixed Methods Study Completed NCT02351570
8 Preoperative Stellate Ganglion Block Can Cause Enhanced Recovery After Coronary Arteries Bypass Grafting Surgery Completed NCT04439058
9 Outreach Crisis Intervention With a Team-based and Integrative Model of Treatment (AKtiV Study): Evaluation of the Inpatient Equivalent HomeTreatment (IEHT According to the German Social Code Book §115d SGB V) - a Proof-of-Concept Study Recruiting NCT04745507
10 Stellate Ganglion Block (SGB) for COVID-19 Acute Respiratory Distress Syndrome (ARDS) Recruiting NCT04402840
11 Effect of Advance Care Planning to Improve Patient-centered Care of Nursing Home Residents: Cluster-randomised Controlled Trial Recruiting NCT04333303
12 [Wissenschaftliche Evaluation Modellvorhaben in Der Kinder- Und Jugendpsychiatrie (§ 64b SGB V) - Therapeutische Intensivbehandlung im Ambulanten Setting (TIBAS) am Universitätsklinikum Tübingen] Not yet recruiting NCT04727359
13 A Pilot Study of Stellate Ganglion Blockade + Psychoeducation to Reduce Cardiac Anxiety and PTSD Symptoms in Cardiac Arrest Survivors Not yet recruiting NCT04582396
14 Stellate Ganglion Block and Cerebral Vasospasm After Aneurysmal Subarachnoid Hemorrhage: a Randomized Controlled Trial (BLOCK-CVS) Not yet recruiting NCT04691271

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

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

# Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome Type 1 29 GPC3 GPC4

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

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

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

Publications for Simpson-Golabi-Behmel Syndrome, Type 1

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

(show top 50) (show all 74)
# Title Authors PMID Year
1
Germinal mosaicism in Simpson-Golabi-Behmel syndrome. 25 57 6
17850639 2007
2
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. 25 61 57
30048822 2019
3
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome. 57 6
18203194 2008
4
Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome. 6 57
16158429 2005
5
A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family. 57 6
9950367 1999
6
Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations. 25 57
20950395 2011
7
The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story. 25 57
21204223 2011
8
Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. 25 57
21082656 2010
9
Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. 57 25
20683991 2010
10
GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. 25 57
11477610 2001
11
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. 25 6
10814714 2000
12
Choledochal cyst in Simpson-Golabi-Behmel syndrome. 25 57
10564884 1999
13
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome. 25 57
10232747 1999
14
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. 25 57
9787072 1998
15
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. 57 25
8589713 1996
16
Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. 57 25
8599356 1995
17
Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. 25 57
8209925 1994
18
Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. 57 25
8322824 1993
19
A new X-linked mental retardation-overgrowth syndrome. 25 57
6538755 1984
20
A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? 57 25
6490008 1984
21
Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome. 6 61
26321508 2015
22
Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome. 57
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. 57
17603795 2007
25
Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome. 57
17497720 2007
26
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. 57
9781908 1998
27
Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall. 57
7554352 1995
28
Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families. 57
8209924 1994
29
Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27. 57
7909248 1994
30
The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. 57
1479609 1992
31
Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature. 57
1456279 1992
32
Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome. 57
1456280 1992
33
Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21. 57
1605222 1992
34
Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias. 57
2018065 1991
35
Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family. 57
3177456 1988
36
Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 57
3177455 1988
37
A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family. 57
3177454 1988
38
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. 57
3706412 1986
39
The Golabi-Rosen syndrome. 57
6542751 1984
40
The Golabi-Rosen syndrome--report of a second family. 57
6538756 1984
41
A Weaver-like syndrome in a Japanese boy. 57
6705243 1984
42
An (X;1) translocation, balanced, 46 chromosomes. Repository identification no. GM-97. 57
4139001 1974
43
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 25
29637653 2018
44
Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. 25
28674120 2017
45
First reported case of Simpson-Golabi-Behmel syndrome in a female fetus diagnosed prenatally with chromosomal microarray. 25
28469860 2017
46
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue. 25
27739211 2017
47
Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. 25
27589329 2016
48
Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications. 25
26847959 2016
49
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome. 25
26915941 2016
50
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 25
26545172 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 GPC3 NM_001164619.2(GPC3):c.175+32082_175+32094del Deletion Pathogenic 11685 rs869025181 X:133087208-133087220 X:133953181-133953193
2 GPC3 NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs) Deletion Pathogenic 11686
3 GPC3 NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) SNV Pathogenic 11687 rs104894854 X:132887655-132887655 X:133753628-133753628
4 GPC3 NM_004484.3(GPC3):c.1292+1G>T SNV Pathogenic 11688 rs869025182 X:132826396-132826396 X:133692368-133692368
5 GPC3 NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) SNV Pathogenic 11689 rs104894855 X:132887946-132887946 X:133753919-133753919
6 GPC3 NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del Deletion Pathogenic 11692 X:132795703-132795954 X:133661675-133661926
7 GPC3 NM_004484.3(GPC3):c.337+1G>A SNV Pathogenic 11693 rs869025183 X:133087076-133087076 X:133953049-133953049
8 GPC3 NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) SNV Pathogenic 11694 rs122453121 X:132833930-132833930 X:133699902-133699902
9 GPC3 NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) SNV Pathogenic 11695 rs267606850 X:132670229-132670229 X:133536201-133536201
10 GPC3 GRCh37/hg19 Xq26.2(chrX:132834006-132986815) copy number loss Pathogenic 224615 X:132834006-132986815
11 FRMD7 GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Pathogenic 625800 X:130280298-132670366
12 GPC3 NM_004484.3(GPC3):c.1692del (p.Leu565fs) Deletion Likely pathogenic 266113 rs886039908 X:132670203-132670203 X:133536175-133536175
13 GPC3 NM_004484.3(GPC3):c.974C>A (p.Ser325Ter) SNV Likely pathogenic 562012 rs1569426054 X:132887567-132887567 X:133753540-133753540
14 GPC3 NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) SNV Likely pathogenic 617901 rs753210097 X:132730547-132730547 X:133596519-133596519
15 MED12 NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) SNV Uncertain significance 619996 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
12.21 GPC4 GPC3 GPC1 ACAN
2
Show member pathways
11.77 GPC4 GPC3 GPC1 ACAN
3
Show member pathways
11.76 GPC4 GPC3 GPC1
4
Show member pathways
11.09 GPC4 GPC3 GPC1 ACAN
5 10.88 COL2A1 ACAN

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 extracellular matrix GO:0031012 9.58 GPC1 COL2A1 ACAN
2 collagen-containing extracellular matrix GO:0062023 9.55 GPC4 GPC3 GPC1 COL2A1 ACAN
3 anchored component of membrane GO:0031225 9.5 GPC4 GPC3 GPC1
4 anchored component of plasma membrane GO:0046658 9.43 GPC4 GPC3 GPC1
5 intrinsic component of plasma membrane GO:0031226 9.37 GPC3 GPC1
6 Golgi lumen GO:0005796 9.26 GPC4 GPC3 GPC1 ACAN
7 lysosomal lumen GO:0043202 8.92 GPC4 GPC3 GPC1 ACAN

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

# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.61 GPC4 GPC3 GPC1
2 retinoid metabolic process GO:0001523 9.5 GPC4 GPC3 GPC1
3 collagen fibril organization GO:0030199 9.46 COL2A1 ACAN
4 regulation of signal transduction GO:0009966 9.43 GPC4 GPC3 GPC1
5 skeletal system morphogenesis GO:0048705 9.4 RFLNB COL2A1
6 cartilage condensation GO:0001502 9.37 COL2A1 ACAN
7 glycosaminoglycan biosynthetic process GO:0006024 9.33 GPC4 GPC3 GPC1
8 glycosaminoglycan catabolic process GO:0006027 9.13 GPC4 GPC3 GPC1
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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