MCID: SMP003
MIFTS: 51

Simpson-Golabi-Behmel Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Cancer diseases, Mental diseases

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 59SNOMED-CT, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome:

Name: Simpson-Golabi-Behmel Syndrome 10 45 23 12 51 36 24
Simpson Dysmorphia Syndrome 10 45 51
Golabi-Rosen Syndrome 10 45 51
Sgbs1 45 23 51
Sgbs 45 23 51
X-Linked Dysplasia Gigantism Syndrome 10 51
Bulldog Syndrome 10 45
Sdys 23 51
Dgsx 23 51
 
Dysplasia Gigantism Syndrome, X-Linked 45
Mental Retardation-Overgrowth Syndrome 23
Simpson-Golabi-Behmel Syndrome Type 1 51
Dgsx Golabi-Rosen Syndrome 10
Simpson Dysplasia Syndrome 23
Sara Angers Syndrome 10
Simpson Syndrome 23
Sgb Syndrome 10

Characteristics:

Orphanet epidemiological data:

51
simpson-golabi-behmel syndrome:
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0060248
MeSH36 C537340
Orphanet51 373
SNOMED-CT59 439143004
ICD10 via Orphanet28 Q87.3
MESH via Orphanet37 C537340
UMLS65 C0796154

Summaries for Simpson-Golabi-Behmel Syndrome

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NIH Rare Diseases:45 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 based summary: Simpson-Golabi-Behmel Syndrome, also known as simpson dysmorphia syndrome, is related to simpson-golabi-behmel syndrome, type 2 and simpson-golabi-behmel syndrome, type 1, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, coarse face and hypertelorism. An important gene associated with Simpson-Golabi-Behmel Syndrome is GPC3 (Glypican 3), and among its related pathways are Non-Canonical Wnt Pathway and Proteoglycans in cancer. Affiliated tissues include heart, testes and spleen, and related mouse phenotype skeleton.

Disease Ontology:10 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference:23 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.

Related Diseases for Simpson-Golabi-Behmel Syndrome

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Diseases in the Simpson-Golabi-Behmel Syndrome family:

Simpson-Golabi-Behmel Syndrome, Type 2 Simpson-Golabi-Behmel Syndrome, Type 1
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 Suite gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1simpson-golabi-behmel syndrome, type 213.2
2simpson-golabi-behmel syndrome, type 113.2
3gpc3-related simpson-golabi-behmel syndrome type 112.9
4gpc4-related simpson-golabi-behmel syndrome type 112.9
5sbbyss syndrome11.9
6blepharophimosis intellectual disability syndromes11.8
7blepharophimosis-intellectual disability syndrome, sbbys type11.6
8say-barber-biesecker variant of ohdo syndrome11.5
9hepatoblastoma10.9
10thrombocytosis10.8
11rheumatoid arthritis10.7
12neuroblastoma10.7
13myocardial infarction10.7
14lung cancer10.7
15hiv-110.7
16hepatocellular carcinoma10.7
17breast cancer10.7
18obesity10.7
19cystic fibrosis10.7
20thyroxine-binding globulin deficiency10.7
21arthritis10.7
22bronchopulmonary dysplasia10.7
23cataract10.7
24cholangiocarcinoma10.7
25glomerulonephritis10.7
26hypoplastic left heart syndrome10.7
27pancreatic ductal adenocarcinoma10.7
28thalassemia10.7
29thromboangiitis obliterans10.7
30pertussis10.7
31arteriovenous malformation10.7
32myopia10.7
33esophagitis10.7
34hypertrophic cardiomyopathy10.7
35porphyria10.7
36urethritis10.7
37hypoactive sexual desire disorder10.7
38hypothyroidism10.7
39cholesterol embolism10.7
40melanoma10.7
41cervicitis10.7
42lymphangiosarcoma10.7
43hemoglobinopathy10.7
44adenocarcinoma10.7
45testicular cancer10.7
46acute porphyria10.7
47monkeypox10.7
48histiocytoma10.7
49fibrous histiocytoma10.7
50rapidly progressive glomerulonephritis10.7

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



Diseases related to simpson-golabi-behmel syndrome

Symptoms for Simpson-Golabi-Behmel Syndrome

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Symptoms:

 51 (show all 72)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • coarse face
  • hypertelorism
  • prognathism/prognathia
  • macrostomia/big mouth
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • supernumerary nipples/polythelia
  • anomalies of the ribs
  • abnormal vertebral size/shape
  • postaxial polydactyly (hand)
  • short foot/brachydactyly of toes
  • broad foot
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • multicystic kidney/renal dysplasia
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • x-linked recessive inheritance
  • tall stature/gigantism/growth acceleration
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • broad nose/nasal bridge
  • short/small nose
  • anteverted nares/nostrils
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • short neck
  • webbed neck/pterygium colli
  • pectus excavatum
  • scoliosis
  • omphalocele/exomphalos
  • absent/hypotonic/flaccid abdominal wall muscles
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • syndactyly of fingers/interdigital palm
  • camptodactyly of fingers
  • clinodactyly of fifth finger
  • broad/bifid thumb
  • syndactyly of toes
  • thin/hypoplastic/hyperconvex fingernails
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • ventricular septal defect/interventricular communication
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • hypoglycemia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • stillbirth/neonatal death
  • death in infancy
  • polyhydramnios
  • epicanthic folds
  • cleft lip
  • talipes-varus/metatarsal varus
  • structural anomalies of the pancreas
  • asplenia/polysplenia/spleen lobulation/accessory spleen
  • diaphragmatic hernia/defect/agenesis
  • abnormal cry/voice/phonation disorder/nasal speech
  • cardiomyopathy/hypertrophic/dilated
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • dandy-walker anomaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • advanced bone age
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • neoplasms/tumors
  • hepatoblastoma
  • nephroblastoma/wilms tumor
  • neuroblastoma

Drugs & Therapeutics for Simpson-Golabi-Behmel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Simpson-Golabi-Behmel Syndrome


Cochrane evidence based reviews: simpson-golabi-behmel syndrome

Genetic Tests for Simpson-Golabi-Behmel Syndrome

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Anatomical Context for Simpson-Golabi-Behmel Syndrome

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

33
Heart, Testes, Spleen, Liver, Bone, Pancreas, Tongue

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053907.8CTNNB1, GPC3, IGF2, MFAP5, OFD1, OSBPL3

Publications for Simpson-Golabi-Behmel Syndrome

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Articles related to Simpson-Golabi-Behmel Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Difficult to Identify: Malignant Primary Peritoneal Mesothelioma. (26164565)
2015
2
Povidone-iodine induced post-surgical irritant contact dermatitis localized outside of the surgical incision area. Report of 27 cases and a literature review. (26475438)
2015
3
HNPCC-Associated Pheochromocytoma: Expanding the Tumor Spectrum. (25872134)
2015
4
Trends of Advocacy Journalism; a Case of the HIV/AIDS Story in the Ugandan Press. (25357726)
2014
5
Anti-CCR4 mAb selectively depletes effector-type FoxP3+CD4+ regulatory T cells, evoking antitumor immune responses in humans. (24127572)
2013
6
Cranial plasmacytoma: a case series and review of the literature. (24426333)
2013
7
Effects of dietary weight loss on obstructive sleep apnea. (23913117)
2013
8
Fever of unknown origin: a case of post obstructive pneumonia complicating mature teratoma. (24116336)
2013
9
Kimura Disease: rare cause of a slowly progressive orbital mass. (24119195)
2013
10
Transient evoked and distortion product otoacoustic emission profile in patients of otosclerosis: a preliminary report. (23449988)
2012
11
Cannabinoid receptor expression in HIV encephalitis and HIV-associated neuropathologic comorbidities. (21450051)
2011
12
Proteomic identification of overexpressed adenomatous polyposis coli and cyclin B3 during endoderm differentiation from human embryonic stem cells. (21404461)
2011
13
TSH neurosecretory dysfunction (TSH-nd) in Down syndrome (DS): low risk of progression to Hashimoto's thyroiditis. (22218446)
2011
14
A newborn with massive congenital astroblastoma. (21491993)
2011
15
Primary gastric plasmacytoma associated with Helicobacter pylori infection: a report of two cases with different prognosis. (20461561)
2010
16
Spotlight on peginterferon-alpha-2a (40 kD) plus ribavirin in the management of chronic hepatitis C mono-infection. (19344193)
2009
17
The synthetic inhibitor of fibroblast growth factor receptor PD166866 controls negatively the growth of tumor cells in culture. (20003343)
2009
18
Antibody response to Salmonella: its induction and role in protection against avian enteric salmonellosis. (17914920)
2007
19
Prolonged AMPK activation increases the expression of fatty acid transporters in cardiac myocytes and perfused hearts. (16710744)
2006
20
Organ-specific collagen expression: implications for renal disease. (16286786)
2006
21
Endothelin-1 induces proliferation of human lung fibroblasts and IL-11 secretion through an ET(A) receptor-dependent activation of MAP kinases. (16149067)
2005
22
Multifocal motor neuropathy. (16155442)
2005
23
Does recombinant human erythropoietin accelerate correction of post-ulcer-bleeding anaemia? A pilot study. (14966922)
2004
24
The FU gene and its possible protein isoforms. (15268766)
2004
25
Case Report. Bilateral sporotrichosis. (12421294)
2002
26
Angiotensin(1-7) potentiates bradykinin-induced vasodilatation in man. (11677365)
2001
27
Unique monoclonal antibody recognizing the third extracellular loop of CXCR4 induces lymphocyte agglutination and enhances human immunodeficiency virus type 1-mediated syncytium formation and productive infection. (11689635)
2001
28
Social and psychiatric functioning in adolescents with Asperger syndrome compared with conduct disorder. (11039855)
2000
29
Complete genomic structure and mutational spectrum of PHKA2 in patients with X-linked liver glycogenosis type I and II. (10330341)
1999
30
Primary disease recurrence after liver transplantation for alveolar echinococcosis: long-term evaluation in 15 patients. (10498634)
1999
31
The structure and function of the cemento-dentinal junction in human teeth. (10567949)
1999
32
Expression and mutational analysis of the MADR2/Smad2 gene in human prostate cancer. (10420150)
1999
33
Can results obtained with commercially available MicroScan microdilution panels serve as an indicator of beta-lactamase production among escherichia coli and Klebsiella isolates with hidden resistance to expanded-spectrum cephalosporins and aztreonam? (9705395)
1998
34
Molecular cloning and characterization of LOH11CR2A, a new gene within a refined minimal region of LOH at 11q23. (9417908)
1997
35
Distribution of types for six PCR-based loci; LDLR, GYPA, HBGG, D7S8, GC and HLA-DQA1 in central Pyrenees and Teruel (Spain). (9144942)
1997
36
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkage. (9039988)
1997
37
Histamine release in intact human skin by monocyte chemoattractant factor-1, RANTES, macrophage inflammatory protein-1 alpha, stem cell factor, anti-IgE, and codeine as determined by an ex vivo skin microdialysis technique. (8876555)
1996
38
Different phenotypes of type IXb glycogenosis (phosphorylase-b-kinase deficiency) in adult- and early childhood]. (9019646)
1996
39
Distinguishing hypothyroxinemia due to euthyroid sick syndrome from pituitary insufficiency. (7960686)
1994
40
Neurohormonal profile in aortic valve stenosis]. (8291934)
1993
41
Chronic inhibition of endopeptidase 24.11 in essential hypertension: evidence for enhanced atrial natriuretic peptide and angiotensin II. (8390508)
1993
42
An investigation into the relationship between coal workers' pneumoconiosis and dust exposure in U.S. coal miners. (1509988)
1992
43
Treatment of entropion in lambs. (1926738)
1991
44
Intravenous immunoglobulin therapy for chronic inflammatory demyelinating polyneuropathy recalcitrant to conventional therapy. (1948229)
1991
45
O2 and CO reactions with heme proteins: quantum yields and geminate recombination on picosecond time scales. (2386783)
1990
46
Lymphangiosarcoma and haemangiosarcoma in a cat. (2918111)
1989
47
Coexistent pseudohypoparathyroidism and D brachydactyly in a family. (3815876)
1986
48
Recurrent conjunctivitis in neonatal herpes infection. (6889160)
1983
49
50

Variations for Simpson-Golabi-Behmel Syndrome

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Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2CTNNB1, GPC1, GPC3, GPC5
29.1CTNNB1, GPC1, GPC3, IGF2
3
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
4
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
5
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
6
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
7
Show member pathways
8.8GPC1, GPC3, GPC4, GPC5, GPC6
8
Show member pathways
8.8CTNNB1, GPC1, GPC3, GPC5, GPC6
9
Show member pathways
8.8CTNNB1, GPC1, GPC3, GPC5, GPC6
10
Show member pathways
8.5CTNNB1, GPC1, GPC3, GPC4, GPC5, GPC6

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

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

idNameGO IDScoreTop Affiliating Genes
1embryonic hindlimb morphogenesisGO:003511610.1CTNNB1, GPC3
2cellular response to lithium ionGO:00712859.9CTNNB1, FABP4
3carbohydrate metabolic processGO:00059758.8GPC1, GPC3, GPC4, GPC5, GPC6

Sources for Simpson-Golabi-Behmel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet