DGSX
MCID: SMP003
MIFTS: 37

Simpson-Golabi-Behmel Syndrome (DGSX) malady

Neuronal diseases category

Summaries for Simpson-Golabi-Behmel Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Simpson-golabi-behmel syndrome (sgbs) is a condition that affects many parts of the body and occurs primarily in males. it is an overgrowth syndrome, which means that affected individuals have 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. individuals typically have distinctive facial features including hypertelorism, macrostomia, macroglossia, a broad nose with an upturned tip, and palatal abnormalities. other, variable findings include extra nipples, diastasis recti, umbilical hernia, congenital heart defects, renal defects, gastrointestinal anomalies, skeletal anomalies, hand anomalies, genitourinary abnormalities, and hepatosplenomegaly. some people with the condition have mild to severe intellectual disability. about 10 percent of people with sgbs develop tumors in early childhood, including wilms tumor and neuroblastoma. some cases of sgbs are caused by mutations in the gpc3 gene and in other cases, the cause is unknown. it is inherited in an x-linked recessive manner. last updated: 2/15/2011

MalaCards: Simpson-Golabi-Behmel Syndrome, also known as sgbs1, is related to beckwith-wiedemann syndrome and sotos syndrome. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (glypican 3), and among its related pathways are Visual phototransduction and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds diethylnitrosamine and c-peptide have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Genetics Home Reference:21 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. The most severe cases are life-threatening before birth or in infancy, whereas people with milder cases often live into adulthood.

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

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42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 60UMLS
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Classifications:

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Anatomical: Neuronal diseases


Aliases & Descriptions:

simpson-golabi-behmel syndrome 42 22 21
sgbs1 42 21
sgbs 42 21
dysplasia gigantism syndrome, x-linked 42
simpson-golabi-behmel syndrome, type 1 60
mental retardation-overgrowth syndrome 21
simpson dysplasia syndrome 21
golabi-rosen syndrome 42
bulldog syndrome 42
simpson syndrome 21
sdys 21
dgsx 21


Related Diseases for Simpson-Golabi-Behmel Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Simpson-Golabi-Behmel Syndrome Type 1 family:

simpson-golabi-behmel syndrome Simpson-Golabi-Behmel Syndrome, Type 2
Gpc3-Related Simpson-Golabi-Behmel Syndrome Type 1 Gpc4-Related Simpson-Golabi-Behmel Syndrome Type 1

Diseases related to Simpson-Golabi-Behmel Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1beckwith-wiedemann syndrome30.8GPC3, IGF2R, IGF2
2sotos syndrome30.6GPC3
3liver cirrhosis30.6GPC3, DPP4
4simpson-golabi-behmel syndrome type 111.0
5simpson-golabi-behmel syndrome, type 210.9
6gpc3-related simpson-golabi-behmel syndrome type 110.7
7gpc4-related simpson-golabi-behmel syndrome type 110.7
8hepatoblastoma10.6
9carotid artery dissection10.4
10hypospadias10.4
11cleft palate10.4
12choledochal cyst10.4
13adult syndrome10.4
14congenital diaphragmatic hernia10.4
15craniosynostosis10.4
16hepatocellular carcinoma10.4
17laryngitis10.4
18medulloblastoma10.4
19prostatitis10.4
20image syndrome10.4
21ohdo syndrome, say-barber-biesecker-young-simpson variant10.3
22blepharophimosis10.2
23hypothyroidism10.2
24schizophrenia10.0
25blepharophimosis intellectual disability syndromes10.0
26say-barber-biesecker variant of ohdo syndrome10.0
27gigantism10.0GPC3
28polydactyly10.0OFD1
29rhabdomyosarcoma10.0IGF2
30meningioma10.0IGF2
31wilms tumor10.0GPC3, IGF2
32choriocarcinoma10.0IGF2, GPC3
33hypoglycemia10.0IGF2, DPP4
34nasopharyngitis10.0DPP4
35ovarian cancer10.0GPC3, IGF2
36adenoma10.0IGF2R, IGF2
37colorectal cancer10.0GPC3, IGF2R, IGF2
38hyperinsulinism10.0IGF2, IGF2R, DPP4
39colon cancer10.0DPP4, IGF2R, IGF2

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



Diseases related to simpson-golabi-behmel syndrome

Clinical Features for Simpson-Golabi-Behmel Syndrome

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Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Simpson-Golabi-Behmel Syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

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22GTR
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Genetic tests related to Simpson-Golabi-Behmel Syndrome:

id Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome22

Anatomical Context for Simpson-Golabi-Behmel Syndrome

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32MalaCards
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MalaCards organs/tissues related to Simpson-Golabi-Behmel Syndrome:

32
Heart

Animal Models for Simpson-Golabi-Behmel Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Simpson-Golabi-Behmel Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.4GPC3, IGF2R, IGF2, OFD1
2MP:00053828.4OFD1, IGF2, IGF2R, GPC3
3MP:00053678.3GPC3, IGF2R, IGF2, OFD1
4MP:00053888.3OFD1, IGF2, IGF2R, GPC3
5MP:00053808.3GPC3, IGF2R, IGF2, OFD1
6MP:00053908.0OFD1, IGF2, IGF2R, GPC3
7MP:00053787.5GPC3, DPP4, IGF2R, IGF2, OFD1

Publications for Simpson-Golabi-Behmel Syndrome

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Genetic Variations for Simpson-Golabi-Behmel Syndrome

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Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Simpson-Golabi-Behmel Syndrome

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

Pathways for genes affiliated with Simpson-Golabi-Behmel Syndrome

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53Reactome
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Pathways related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.5GPC3, GPC4
2
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9.5GPC3, GPC4
3
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9.5GPC3, GPC4

Compounds for genes affiliated with Simpson-Golabi-Behmel Syndrome

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1diethylnitrosamine449.5IGF2, GPC3
2c-peptide449.3DPP4, IGF2
3proliferin449.3IGF2R, IGF2
4perillyl alcohol44 2410.2IGF2, IGF2R
5heparan sulfate44 249.8IGF2R, GPC4, GPC3
6Alpha-D-Mannose118.7DPP4, IGF2R
7mannose 6-phosphate44 249.7DPP4, IGF2R, IGF2
8glycogen44 249.4DPP4, IGF2R, IGF2

GO Terms for genes affiliated with Simpson-Golabi-Behmel Syndrome

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16Gene Ontology
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Cellular components related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:0057969.5GPC3, GPC4
2lysosomal lumenGO:0432029.2GPC3, GPC4
3endocytic vesicleGO:0301398.9DPP4, IGF2R

Biological processes related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:0060279.7GPC3, GPC4
2glycosaminoglycan biosynthetic processGO:0060249.7GPC3, GPC4
3chondroitin sulfate metabolic processGO:0302049.6GPC3, GPC4
4retinoid metabolic processGO:0015239.5GPC4, GPC3
5glycosaminoglycan metabolic processGO:0302039.5GPC3, GPC4
6phototransduction, visible lightGO:0076039.4GPC3, GPC4
7anatomical structure morphogenesisGO:0096539.2GPC3, GPC4

Molecular functions related to Simpson-Golabi-Behmel Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparan sulfate proteoglycan bindingGO:0433959.5GPC3, GPC4

Products for genes affiliated with Simpson-Golabi-Behmel Syndrome

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  • Antibodies
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Sources for Simpson-Golabi-Behmel Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet