DGSX
MCID: SMP003
MIFTS: 50

Simpson-Golabi-Behmel Syndrome (DGSX)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

MalaCards integrated aliases for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 20 43 36 29
Sgbs1 20 43
Sgbs 20 43
Dysplasia Gigantism Syndrome, X-Linked 20
Mental Retardation-Overgrowth Syndrome 43
Simpson-Golabi-Behmel Syndrome Type 1 43
Syndrome, Simpson-Golabi-Behmel 39
Simpson Dysmorphia Syndrome 20
Simpson Dysplasia Syndrome 43
Golabi-Rosen Syndrome 20
Bulldog Syndrome 20
Simpson Syndrome 43
Dgsx 43
Sdys 43

Characteristics:

HPO:

31
simpson-golabi-behmel syndrome:
Onset and clinical course death in infancy


Classifications:



Summaries for Simpson-Golabi-Behmel Syndrome

MedlinePlus Genetics : 43 Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome vary widely. People with mild cases often live into adulthood.People with Simpson-Golabi-Behmel syndrome have distinctive facial features including widely spaced eyes (ocular hypertelorism), an unusually large mouth (macrostomia), a large tongue (macroglossia) that may have a deep groove or furrow down the middle, a broad nose with an upturned tip, and abnormalities affecting the roof of the mouth (the palate). The facial features are often described as "coarse" in older children and adults with this condition.Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. Affected infants may be born with one or more extra nipples, an abnormal opening in the muscle covering the abdomen (diastasis recti), a soft out-pouching around the belly-button (an umbilical hernia), or a hole in the diaphragm (a diaphragmatic hernia) that allows the stomach and intestines to move into the chest and crowd the developing heart and lungs.Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this condition have mild to severe intellectual disability, while others have normal intelligence.About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous or noncancerous tumors in early childhood. The most common tumors are a rare form of kidney cancer called Wilms tumor and a cancerous tumor called a neuroblastoma that arises from developing nerve cells.

MalaCards based summary : Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to simpson-golabi-behmel syndrome, type 2 and simpson-golabi-behmel syndrome, type 1. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways/superpathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Incretin synthesis, secretion, and inactivation. The drugs Quetiapine Fumarate and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and spleen, and related phenotypes are macrocephaly and macroglossia

GARD : 20 Simpson-Golabi-Behmel syndrome (SGBS) is a condition that affects many parts of the body and occurs primarily in males. SGBS is an overgrowth disorder, meaning that people with the disease are larger than average at birth (macrosomia) and continue to grow and gain weight at an unusual rate. The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. The infantile lethal form of SGBS is sometimes known as SGBS type 2. People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia ) with a large tongue ( macroglossia ), and abnormalities of the roof of the mouth (palate). Other, findings include extra nipples, various birth defects such as a protrusion of the lining of the abdomen through the area around the belly button ( umbilical hernia ), and skeletal anomalies. Some people with the condition have a mild to severe intellectual disability. About 10 percent of people with SGBS develop tumors in early childhood, including a rare type of kidney cancer ( Wilms tumor ) and cancer of the nerve tissue ( neuroblastoma ). SGBS can be caused by mutations in the GPC3 and GPC4 genes. Mutations in other genes have been studied, but have in most instances have only been described in one person or one family. In other cases, the cause is unknown. SGBS is inherited in an X-linked manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms.

KEGG : 36 Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk of embryonal cancers. Most cases of SGBS is type 1, that appear to arise as a result of either deletions or point mutations within the glypican-3 (GPC3) gene. SGBS type 2 is a severe variant, that is associated with defects in OFD1.

Wikipedia : 73 Simpson-Golabi-Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause... more...

Related Diseases for Simpson-Golabi-Behmel Syndrome

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 simpson-golabi-behmel syndrome, type 2 33.0 PIGA OFD1
2 simpson-golabi-behmel syndrome, type 1 33.0 MED12 GPC4 GPC3
3 wilms tumor 1 30.4 MED12 GPC4 GPC3 CTNNB1
4 liver cirrhosis 29.8 GPC3 DPP4 CTNNB1
5 ohdo syndrome, sbbys variant 11.8
6 hepatoblastoma 11.5
7 ohdo syndrome 11.5
8 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.3
9 genitopatellar syndrome 11.2
10 overgrowth syndrome 11.2
11 familial wilms tumor 2 10.8
12 cleft palate, isolated 10.8
13 macroglossia 10.7
14 alacrima, achalasia, and mental retardation syndrome 10.7
15 diaphragmatic hernia, congenital 10.7
16 polydactyly 10.7
17 hypertelorism 10.6
18 beckwith-wiedemann syndrome 10.6
19 gigantism 10.6
20 sotos syndrome 1 10.5
21 cryptorchidism, unilateral or bilateral 10.5
22 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.5
23 human immunodeficiency virus type 1 10.5
24 scoliosis 10.5
25 polyhydramnios 10.5
26 cleft lip 10.5
27 attention deficit-hyperactivity disorder 10.4
28 medulloblastoma 10.4
29 nipples, supernumerary 10.4
30 joubert syndrome 1 10.4
31 hydrops fetalis, nonimmune 10.4
32 perlman syndrome 10.4
33 macrostomia, isolated 10.4
34 lymphatic malformation 7 10.4
35 umbilical hernia 10.4
36 omphalocele 10.4
37 hypospadias 10.4
38 hypothyroidism 10.4
39 craniosynostosis 10.4
40 neuroblastoma 10.4
41 hypotonia 10.4
42 cleft lip/palate 10.4
43 renal dysplasia 10.4
44 blepharophimosis 10.3
45 apnea, obstructive sleep 10.3
46 hepatocellular carcinoma 10.3
47 type 2 diabetes mellitus 10.3
48 marfan syndrome 10.3
49 meckel diverticulum 10.3
50 pectus excavatum 10.3

Graphical network of the top 20 diseases related to Simpson-Golabi-Behmel Syndrome:



Diseases related to Simpson-Golabi-Behmel Syndrome

Symptoms & Phenotypes for Simpson-Golabi-Behmel Syndrome

Human phenotypes related to Simpson-Golabi-Behmel Syndrome:

31 (show top 50) (show all 74)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 hallmark (90%) HP:0000256
2 macroglossia 31 hallmark (90%) HP:0000158
3 coarse facial features 31 hallmark (90%) HP:0000280
4 splenomegaly 31 hallmark (90%) HP:0001744
5 hepatomegaly 31 hallmark (90%) HP:0002240
6 hypertelorism 31 hallmark (90%) HP:0000316
7 mandibular prognathia 31 hallmark (90%) HP:0000303
8 cryptorchidism 31 hallmark (90%) HP:0000028
9 short toe 31 hallmark (90%) HP:0001831
10 wide mouth 31 hallmark (90%) HP:0000154
11 abnormality of the ribs 31 hallmark (90%) HP:0000772
12 ventricular septal defect 31 hallmark (90%) HP:0001629
13 tall stature 31 hallmark (90%) HP:0000098
14 vertebral fusion 31 hallmark (90%) HP:0002948
15 multicystic kidney dysplasia 31 hallmark (90%) HP:0000003
16 postaxial hand polydactyly 31 hallmark (90%) HP:0001162
17 short foot 31 hallmark (90%) HP:0001773
18 supernumerary nipple 31 hallmark (90%) HP:0002558
19 broad foot 31 hallmark (90%) HP:0001769
20 increased circulating ige level 31 hallmark (90%) HP:0003212
21 neurological speech impairment 31 frequent (33%) HP:0002167
22 scoliosis 31 frequent (33%) HP:0002650
23 short neck 31 frequent (33%) HP:0000470
24 inguinal hernia 31 frequent (33%) HP:0000023
25 abnormality of the helix 31 frequent (33%) HP:0011039
26 wide nasal bridge 31 frequent (33%) HP:0000431
27 umbilical hernia 31 frequent (33%) HP:0001537
28 short nose 31 frequent (33%) HP:0003196
29 anteverted nares 31 frequent (33%) HP:0000463
30 broad thumb 31 frequent (33%) HP:0011304
31 hypoglycemia 31 frequent (33%) HP:0001943
32 aplasia/hypoplasia of the abdominal wall musculature 31 frequent (33%) HP:0010318
33 cleft palate 31 frequent (33%) HP:0000175
34 webbed neck 31 frequent (33%) HP:0000465
35 high, narrow palate 31 frequent (33%) HP:0002705
36 pectus excavatum 31 frequent (33%) HP:0000767
37 atrial septal defect 31 frequent (33%) HP:0001631
38 prolonged qt interval 31 frequent (33%) HP:0001657
39 bundle branch block 31 frequent (33%) HP:0011710
40 downslanted palpebral fissures 31 frequent (33%) HP:0000494
41 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
42 low-set, posteriorly rotated ears 31 frequent (33%) HP:0000368
43 polyhydramnios 31 frequent (33%) HP:0001561
44 hydronephrosis 31 frequent (33%) HP:0000126
45 finger syndactyly 31 frequent (33%) HP:0006101
46 camptodactyly of finger 31 frequent (33%) HP:0100490
47 toe syndactyly 31 frequent (33%) HP:0001770
48 omphalocele 31 frequent (33%) HP:0001539
49 ureteral duplication 31 frequent (33%) HP:0000073
50 hydroureter 31 frequent (33%) HP:0000072

MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 CTNNB1 DPP4 GPC3 MED12 OFD1 PIGA
2 craniofacial MP:0005382 9.8 CTNNB1 GPC3 GPC4 MED12 OFD1 PIGA
3 growth/size/body region MP:0005378 9.7 CTNNB1 DPP4 GPC3 GPC4 MED12 OFD1
4 embryo MP:0005380 9.65 CTNNB1 GPC3 MED12 OFD1 PIGA
5 limbs/digits/tail MP:0005371 9.26 CTNNB1 GPC3 MED12 OFD1
6 skeleton MP:0005390 9.02 CTNNB1 GPC3 MED12 OFD1 PIGA

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Quetiapine Fumarate Phase 4 111974-72-2
2 Antidepressive Agents Phase 4
3 Psychotropic Drugs Phase 4
4 Antipsychotic Agents Phase 4
5
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
6
Tamoxifen Approved Phase 2 10540-29-1 2733526
7 Anesthetics Phase 2
8 Anesthetics, Local Phase 2
9 Pharmaceutical Solutions Phase 2
10 Estrogens Phase 2
11 Estrogen Receptor Modulators Phase 2
12 Estrogen Receptor Antagonists Phase 2
13 Estrogen 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 Stellate Ganglion Block (SGB) for COVID-19 Acute Respiratory Distress Syndrome (ARDS) Recruiting NCT04402840
10 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
11 A Pilot Study of Stellate Ganglion Blockade + Psychoeducation to Reduce Cardiac Anxiety and PTSD Symptoms in Cardiac Arrest Survivors Recruiting NCT04582396
12 Effect of Advance Care Planning to Improve Patient-centered Care of Nursing Home Residents: Cluster-randomised Controlled Trial Recruiting NCT04333303
13 [Wissenschaftliche Evaluation Modellvorhaben in Der Kinder- Und Jugendpsychiatrie (§ 64b SGB V) - Therapeutische Intensivbehandlung im Ambulanten Setting (TIBAS) am Universitätsklinikum Tübingen] Not yet recruiting NCT04727359
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

Genetic Tests for Simpson-Golabi-Behmel Syndrome

Genetic tests related to Simpson-Golabi-Behmel Syndrome:

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

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

40
Tongue, Heart, Spleen, Adipocyte, Kidney, Prostate, Pancreatic Islet

Publications for Simpson-Golabi-Behmel Syndrome

Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50) (show all 270)
# Title Authors PMID Year
1
Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome. 20 61
9781908 1998
2
Growth arrest-specific 6 modulates adiponectin expression and insulin resistance in adipose tissue. 61
32969596 2021
3
miR-146a regulates insulin sensitivity via NPR3. 61
33206203 2021
4
Rosmarinic acid attenuates obesity and obesity-related inflammation in human adipocytes. 61
33476690 2021
5
Lower plasma PCSK9 in normocholesterolemic subjects is associated with upregulated adipose tissue surface-expression of LDLR and CD36 and NLRP3 inflammasome. 61
33527668 2021
6
Simpson-Golabi-Behmel-Syndrome in Dichorionic-Diamniotic Twin Pregnancy. 61
33540913 2021
7
A new human adipocyte model with PTEN haploinsufficiency. 61
32579864 2020
8
Tall stature in children and adolescents. 61
32748612 2020
9
CD90 Is Dispensable for White and Beige/Brown Adipocyte Differentiation. 61
33114405 2020
10
Thermogenic Activation Downregulates High Mitophagy Rate in Human Masked and Mature Beige Adipocytes. 61
32927882 2020
11
Results of Treatment for Patients With Multicentric or Bilaterally Predisposed Unilateral Wilms Tumor (AREN0534): A report from the Children's Oncology Group. 61
32459384 2020
12
In Depth Quantitative Proteomic and Transcriptomic Characterization of Human Adipocyte Differentiation Using the SGBS Cell Line. 61
32384580 2020
13
IL-29 promoted obesity-induced inflammation and insulin resistance. 61
31363171 2020
14
Ameloblastoma associated with syndromes: A systematic review. 61
31336213 2020
15
Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4. 61
31583675 2020
16
Reduced circulating levels of chemokine CXCL14 in adolescent girls with polycystic ovary syndrome: normalization after insulin sensitization. 61
32107266 2020
17
Functional Screening of Candidate Causal Genes for Insulin Resistance in Human Preadipocytes and Adipocytes. 61
31739742 2020
18
Rare Course of Bilateral Congenital Diaphragmatic Hernia Treated Thoracoscopically-Case Report. 61
32411638 2020
19
Whole exome sequencing aids the diagnosis of Simpson-Golabi-Behmel syndrome in two male fetuses. 61
31304847 2020
20
Adipocyte abundances of CES1, CRYAB, ENO1 and GANAB are modified in-vitro by glucose restriction and are associated with cellular remodelling during weight regain. 61
31037987 2019
21
The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation. 61
31766503 2019
22
Synchronous occurrence of multiple distinct jaw lesions in Simpson-Golabi-Behmel Syndrome: A case report. 61
30553040 2019
23
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 61
31366608 2019
24
Simpson-Golabi-Behmel syndrome type 1 with subclinical hypothyroidism: A case report. 61
31651874 2019
25
Hydroxytyrosol Modulates Adipocyte Gene and miRNA Expression Under Inflammatory Condition. 61
31627295 2019
26
Elevated UCP1 levels are sufficient to improve glucose uptake in human white adipocytes. 61
31382214 2019
27
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia. 61
31373179 2019
28
Glucose Restriction Plus Refeeding in Vitro Induce Changes of the Human Adipocyte Secretome with an Impact on Complement Factors and Cathepsins. 61
31434216 2019
29
Open Chromatin Profiling in Adipose Tissue Marks Genomic Regions with Functional Roles in Cardiometabolic Traits. 61
31186305 2019
30
Differentiating SGBS adipocytes respond to PPARγ stimulation, irisin and BMP7 by functional browning and beige characteristics. 61
30967578 2019
31
CUGC for Simpson-Golabi-Behmel syndrome (SGBS). 61
30683921 2019
32
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1. 61
30048822 2019
33
Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity. 61
29717274 2019
34
Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus. 61
30445632 2019
35
Antioxidant and Anti-Inflammatory Properties of Nigella sativa Oil in Human Pre-Adipocytes. 61
30823525 2019
36
Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study. 61
30592149 2019
37
Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. 61
30667571 2019
38
In vitro profiling of volatile organic compounds released by Simpson-Golabi-Behmel syndrome adipocytes. 61
30537625 2019
39
Ovotesticular Disorder of Sex Development (Ovotestis) in Simpson-Golabi-Behmel Syndrome: Expansion of the Clinical Spectrum. 61
29652239 2019
40
miR-107 inhibits CDK6 expression, differentiation, and lipid storage in human adipocytes. 61
30261211 2019
41
Immunotherapeutic Targeting of GPC3 in Pediatric Solid Embryonal Tumors. 61
30873384 2019
42
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 61
30447178 2018
43
Adipose Tissue Transferrin and Insulin Resistance. 61
30099506 2018
44
Tetrad presentation of non-syndromic odontogenic keratocyst: An uphill diagnostic and therapeutic challenge. 61
30648369 2018
45
For Debate: The Significance of Etiologic Diagnosis in Neonates with Overgrowth Syndromes. Lesson Learned from the Simpson-Golabi-Behmel Syndrome. 61
30371035 2018
46
Impact of X-ray Exposure on the Proliferation and Differentiation of Human Pre-Adipocytes. 61
30208657 2018
47
Synthesis and biological evaluations of marine oxohexadecenoic acids: PPARα/γ dual agonism and anti-diabetic target gene effects. 61
29940464 2018
48
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome. 61
29737011 2018
49
Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases. 61
30158844 2018
50
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. 61
29637653 2018

Variations for Simpson-Golabi-Behmel Syndrome

Expression for Simpson-Golabi-Behmel Syndrome

Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome.

Pathways for Simpson-Golabi-Behmel Syndrome

GO Terms for Simpson-Golabi-Behmel Syndrome

Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.96 GPC4 GPC3
2 anchored component of plasma membrane GO:0046658 8.62 GPC4 GPC3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.56 GPC3 CTNNB1
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.55 MED12 GPC4
3 canonical Wnt signaling pathway GO:0060070 9.54 MED12 CTNNB1
4 retinoid metabolic process GO:0001523 9.52 GPC4 GPC3
5 stem cell population maintenance GO:0019827 9.51 MED12 CTNNB1
6 regulation of signal transduction GO:0009966 9.49 GPC4 GPC3
7 embryonic organ development GO:0048568 9.48 MED12 CTNNB1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.46 GPC3 CTNNB1
9 glycosaminoglycan biosynthetic process GO:0006024 9.43 GPC4 GPC3
10 regulation of canonical Wnt signaling pathway GO:0060828 9.4 GPC3 CTNNB1
11 osteoclast differentiation GO:0030316 9.37 GPC3 CTNNB1
12 embryonic hindlimb morphogenesis GO:0035116 9.32 GPC3 CTNNB1
13 glycosaminoglycan catabolic process GO:0006027 9.26 GPC4 GPC3
14 anterior/posterior axis specification GO:0009948 9.16 GPC3 CTNNB1
15 embryonic brain development GO:1990403 8.96 MED12 CTNNB1
16 regulation of protein localization to membrane GO:1905475 8.62 GPC4 GPC3

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.62 MED12 CTNNB1

Sources for Simpson-Golabi-Behmel Syndrome

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....