MCID: SMP007
MIFTS: 48

Simpson-Golabi-Behmel Syndrome, Type 1 malady

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

Aliases & Classifications for Simpson-Golabi-Behmel Syndrome, Type 1

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Aliases & Descriptions for Simpson-Golabi-Behmel Syndrome, Type 1:

Name: Simpson-Golabi-Behmel Syndrome, Type 1 52 12
Simpson-Golabi-Behmel Syndrome 11 48 25 54 27 39 13
Sgbs1 48 24 25 54 70
Simpson Dysmorphia Syndrome 11 48 54 70
Golabi-Rosen Syndrome 11 48 54 70
Simpson-Golabi-Behmel Syndrome Type 1 23 24 54
Bulldog Syndrome 11 48 70
Sgbs 48 25 54
Dgsx 25 54 70
Sdys 25 54 70
 
X-Linked Dysplasia Gigantism Syndrome 11 54
Mental Retardation-Overgrowth Syndrome 25
Dysplasia Gigantism Syndrome, X-Linked 48
Dysplasia Gigantism Syndrome X-Linked 70
Simpson-Golabi-Behmel Syndrome 1 70
Dgsx Golabi-Rosen Syndrome 11
Simpson Dysplasia Syndrome 25
Sara Angers Syndrome 11
Simpson Syndrome 25
Sgb Syndrome 11

Characteristics:

Orphanet epidemiological data:

54
simpson-golabi-behmel syndrome:
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal

HPO:

64
simpson-golabi-behmel syndrome, type 1:
Inheritance: x-linked recessive inheritance

GeneReviews:

23
Penetrance: to date, all males with a gpc3 mutation have had clinical findings of sgbs1 [authors, personal observation]...


Classifications:



External Ids:

OMIM52 312870
Disease Ontology11 DOID:0060248
NCIt45 C118787
SNOMED-CT62 439143004
Orphanet54 ORPHA373
MESH via Orphanet40 C537340
ICD10 via Orphanet31 Q87.3
MedGen37 C0796154
UMLS68 C0796154

Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

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NIH Rare Diseases:48 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, Type 1, also known as simpson-golabi-behmel syndrome, is related to simpson-golabi-behmel syndrome, type 2 and gpc3-related simpson-golabi-behmel syndrome type 1, and has symptoms including multicystic kidney dysplasia, cryptorchidism and tall stature. An important gene associated with Simpson-Golabi-Behmel Syndrome, Type 1 is GPC3 (Glypican 3), and among its related pathways are Non-Canonical Wnt Pathway and Metabolism of fat-soluble vitamins. Affiliated tissues include heart, kidney and tongue.

Disease Ontology:11 An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.

Genetics Home Reference:25 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.

OMIM:52 Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies,... (312870) more...

UniProtKB/Swiss-Prot:70 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 for NBK1219

Related Diseases for Simpson-Golabi-Behmel Syndrome, Type 1

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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

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Symptoms by clinical synopsis from OMIM:

312870

Clinical features from OMIM:

312870

Human phenotypes related to Simpson-Golabi-Behmel Syndrome, Type 1:

 64 54 (show all 124)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0000003
2 cryptorchidism64 54 hallmark (90%) Very frequent (99-80%) HP:0000028
3 tall stature64 54 hallmark (90%) Very frequent (99-80%) HP:0000098
4 wide mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000154
5 abnormality of the tongue64 hallmark (90%) HP:0000157
6 macrocephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000256
7 coarse facial features64 54 hallmark (90%) Very frequent (99-80%) HP:0000280
8 mandibular prognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000303
9 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
10 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
11 postaxial hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001162
12 splenomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0001744
13 broad foot64 54 hallmark (90%) Very frequent (99-80%) HP:0001769
14 short toe64 54 hallmark (90%) Very frequent (99-80%) HP:0001831
15 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
16 supernumerary nipple64 54 hallmark (90%) Very frequent (99-80%) HP:0002558
17 abnormal form of the vertebral bodies64 hallmark (90%) HP:0003312
18 abnormality of the ureter64 typical (50%) HP:0000069
19 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
20 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
21 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
22 webbed neck64 54 typical (50%) Frequent (79-30%) HP:0000465
23 short neck64 54 typical (50%) Frequent (79-30%) HP:0000470
24 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
25 pectus excavatum64 54 typical (50%) Frequent (79-30%) HP:0000767
26 abnormality of the fingernails64 typical (50%) HP:0001231
27 umbilical hernia64 54 typical (50%) Frequent (79-30%) HP:0001537
28 omphalocele64 54 typical (50%) Frequent (79-30%) HP:0001539
29 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
30 ventricular septal defect64 54 typical (50%) Very frequent (99-80%) HP:0001629
31 atria septal defect64 typical (50%) HP:0001631
32 toe syndactyly64 54 typical (50%) Frequent (79-30%) HP:0001770
33 hypoglycemia64 54 typical (50%) Frequent (79-30%) HP:0001943
34 neurological speech impairment64 54 typical (50%) Frequent (79-30%) HP:0002167
35 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
36 short nose64 54 typical (50%) Frequent (79-30%) HP:0003196
37 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
38 finger syndactyly64 54 typical (50%) Frequent (79-30%) HP:0006101
39 abnormality of thumb phalanx64 typical (50%) HP:0009602
40 aplasia/hypoplasia of the abdominal wall musculature64 54 typical (50%) Frequent (79-30%) HP:0010318
41 abnormality of the helix64 54 typical (50%) Frequent (79-30%) HP:0011039
42 arrhythmia64 typical (50%) HP:0011675
43 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
44 cleft upper lip64 54 occasional (7.5%) Occasional (29-5%) HP:0000204
45 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
46 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
47 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
48 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
49 dandy-walker malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0001305
50 abnormality of the voice64 54 occasional (7.5%) Occasional (29-5%) HP:0001608
51 hypertrophic cardiomyopathy64 occasional (7.5%) HP:0001639
52 abnormality of the pancreas64 occasional (7.5%) HP:0001732
53 talipes64 occasional (7.5%) HP:0001883
54 nephroblastoma64 occasional (7.5%) HP:0002667
55 hepatoblastoma64 54 occasional (7.5%) Occasional (29-5%) HP:0002884
56 neuroblastoma64 54 occasional (7.5%) Occasional (29-5%) HP:0003006
57 accelerated skeletal maturation64 54 occasional (7.5%) Occasional (29-5%) HP:0005616
58 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
59 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
60 cognitive impairment64 occasional (7.5%) HP:0100543
61 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
62 inguinal hernia64 54 Frequent (79-30%) HP:0000023
63 hypospadias64 54 Occasional (29-5%) HP:0000047
64 enlarged kidneys64 HP:0000105
65 renal cyst64 HP:0000107
66 macroglossia64 54 Very frequent (99-80%) HP:0000158
67 broad secondary alveolar ridge64 HP:0000216
68 hydrocephalus64 HP:0000238
69 hearing impairment64 HP:0000365
70 preauricular skin tag64 HP:0000384
71 wide nasal bridge64 54 Frequent (79-30%) HP:0000431
72 dental malocclusion64 HP:0000689
73 cervical ribs64 HP:0000891
74 broad palm64 HP:0001169
75 2-3 finger syndactyly64 HP:0001233
76 agenesis of corpus callosum64 54 Occasional (29-5%) HP:0001274
77 cerebellar vermis hypoplasia64 HP:0001320
78 diastasis recti64 HP:0001540
79 cardiomyopathy64 54 Occasional (29-5%) HP:0001638
80 pulmonic stenosis64 HP:0001642
81 patent ductus arteriosus64 HP:0001643
82 transposition of the great arteries64 HP:0001669
83 polysplenia64 54 Occasional (29-5%) HP:0001748
84 talipes equinovarus64 54 Occasional (29-5%) HP:0001762
85 short foot64 54 Very frequent (99-80%) HP:0001773
86 small nail64 54 Frequent (79-30%) HP:0001792
87 broad toe64 HP:0001837
88 meckel diverticulum64 HP:0002245
89 intestinal malrotation64 HP:0002566
90 flared iliac wings64 HP:0002869
91 short sacroiliac notch64 HP:0003185
92 vertebral segmentation defect64 54 Very frequent (99-80%) HP:0003422
93 birth length greater than 97th percentile64 HP:0003517
94 short palm64 HP:0004279
95 preauricular pit64 HP:0004467
96 pancreatic islet-cell hyperplasia64 54 Occasional (29-5%) HP:0004510
97 depressed nasal bridge64 HP:0005280
98 duplication of renal pelvis64 HP:0005580
99 two carpal ossification centers present at birth64 HP:0006176
100 obsolete lung segmentation defects64 HP:0006525
101 six lumbar vertebrae64 HP:0008416
102 narrow sacroiliac notch64 HP:0008803
103 submucous cleft lip64 HP:0009101
104 short distal phalanx of finger64 HP:0009882
105 broad thumb64 54 Frequent (79-30%) HP:0011304
106 hydroureter54 Frequent (79-30%)
107 ureteral duplication54 Frequent (79-30%)
108 hydronephrosis54 Frequent (79-30%)
109 intellectual disability54 Occasional (29-5%)
110 global developmental delay54 Occasional (29-5%)
111 congenital hip dislocation54 Occasional (29-5%)
112 death in infancy54 Frequent (79-30%)
113 hoarse voice54 Occasional (29-5%)
114 defect in the atrial septum54 Frequent (79-30%)
115 prolonged qt interval54 Frequent (79-30%)
116 nail dysplasia54 Frequent (79-30%)
117 malformation of the heart and great vessels54 Frequent (79-30%)
118 neoplasm54 Occasional (29-5%)
119 nephroblastoma (wilms tumor)54 Occasional (29-5%)
120 high, narrow palate54 Frequent (79-30%)
121 vertebral fusion54 Very frequent (99-80%)
122 increased ige level54 Very frequent (99-80%)
123 short 2nd finger54 Frequent (79-30%)
124 bundle branch block54 Frequent (79-30%)

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

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Interventional clinical trials:

Search ClinicalTrials, 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

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

id Genetic test Affiliating Genes
1 Simpson-Golabi-Behmel Syndrome27
2 Simpson-Golabi-Behmel Syndrome Type 124 GPC4

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

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

36
Heart, Kidney, Tongue, Pancreatic islet, Pancreas, Lung, Skin

Publications for Simpson-Golabi-Behmel Syndrome, Type 1

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

idTitleAuthorsYear
1
Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. (23463737)
2013
2
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. (22807161)
2012
3
Simpson-Golabi-Behmel Syndrome Type 1 (20301398)
1993

Variations for Simpson-Golabi-Behmel Syndrome, Type 1

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

70
id Symbol AA change Variation ID SNP ID
1GPC3p.Trp296ArgVAR_021385rs104894854

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GPC3NM_004484.3(GPC3): c.194_206delGTCTCCCTAAGGG (p.Cys65Serfs)deletionPathogenicrs869025181GRCh37Chr X, 133087208: 133087220
2GPC3NM_004484.3(GPC3): c.1414_1573del160 (p.Leu472Asnfs)deletionPathogenicChr na, -1: -1
3GPC3NM_004484.3(GPC3): c.886T> A (p.Trp296Arg)SNVPathogenicrs104894854GRCh37Chr X, 132887655: 132887655
4GPC3NM_004484.3(GPC3): c.1292+1G> TSNVPathogenicrs869025182GRCh37Chr X, 132826396: 132826396
5GPC3NM_004484.3(GPC3): c.595C> T (p.Arg199Ter)SNVPathogenicrs104894855GRCh37Chr X, 132887946: 132887946
6GPC3NM_004484.3(GPC3): c.(1293_1293)-76_(1413_1413)deldeletionPathogenicGRCh38Chr X, 133661675: 133661926
7GPC3NM_004484.3(GPC3): c.337+1G> ASNVPathogenicrs869025183GRCh37Chr X, 133087076: 133087076
8GPC3NM_004484.3(GPC3): c.1159C> T (p.Arg387Ter)SNVPathogenicrs122453121GRCh37Chr X, 132833930: 132833930
9GPC3NM_004484.3(GPC3): c.1666G> A (p.Gly556Arg)SNVPathogenicrs267606850GRCh37Chr X, 132670229: 132670229
10GPC3NC_000023.10: g.132834006_132986815delcopy number lossPathogenicGRCh37Chr X, 132834006: 132986815
11GPC3NM_004484.3(GPC3): c.1692delT (p.Leu565Serfs)deletionLikely pathogenicrs886039908GRCh37Chr X, 132670203: 132670203

Expression for genes affiliated with Simpson-Golabi-Behmel Syndrome, Type 1

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Search GEO for disease gene expression data for Simpson-Golabi-Behmel Syndrome, Type 1.

Pathways for genes affiliated with Simpson-Golabi-Behmel Syndrome, Type 1

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

idSuper pathwaysScoreTop Affiliating Genes
19.7GPC1, GPC3, GPC5
2
Show member pathways
9.1GPC1, GPC3, GPC4, GPC5, GPC6
3
Show member pathways
9.1GPC1, GPC3, GPC4, GPC5, GPC6
49.0CD44, GPC1, GPC3, IGF2
59.0CD44, FABP4, PPARG
6
Show member pathways
8.9CD44, GPC1, GPC3, GPC5, GPC6
7
Show member pathways
8.6CD44, GPC1, GPC3, GPC4, GPC5, GPC6

GO Terms for genes affiliated with Simpson-Golabi-Behmel Syndrome, Type 1

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

idNameGO IDScoreTop Affiliating Genes
1perinuclear endoplasmic reticulumGO:009703810.4OSBPL3, OSBPL7
2anchored component of membraneGO:003122510.2GPC1, GPC4, GPC5, GPC6
3Golgi lumenGO:00057969.9GPC1, GPC3, GPC4, GPC5, GPC6
4lysosomal lumenGO:00432029.9GPC1, GPC3, GPC4, GPC5, GPC6
5extracellular spaceGO:00056159.5GPC1, GPC3, GPC4, GPC5, GPC6, IGF2
6integral component of plasma membraneGO:00058879.4CD44, GPC1, GPC3, GPC4, GPC5, GPC6
7proteinaceous extracellular matrixGO:00055789.1GPC1, GPC3, GPC4, GPC5, GPC6
8plasma membraneGO:00058867.5BAMBI, CD44, GPC1, GPC3, GPC4, GPC5

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

idNameGO IDScoreTop Affiliating Genes
1lipid transportGO:00068699.8OSBPL2, OSBPL3, OSBPL7
2glycosaminoglycan biosynthetic processGO:00060249.7GPC1, GPC3, GPC4, GPC5, GPC6
3glycosaminoglycan catabolic processGO:00060279.7GPC1, GPC3, GPC4, GPC5, GPC6
4glycosaminoglycan metabolic processGO:00302039.7GPC1, GPC3, GPC4, GPC5, GPC6
5white fat cell differentiationGO:00508729.5FABP4, PPARG
6retinoid metabolic processGO:00015239.4GPC1, GPC3, GPC4, GPC5, GPC6

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

idNameGO IDScoreTop Affiliating Genes
1coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathwayGO:190492910.3GPC4, GPC6
2cholesterol bindingGO:00154859.7OSBPL2, OSBPL3, OSBPL7
3heparan sulfate proteoglycan bindingGO:00433959.1GPC1, GPC3, GPC4, GPC5, GPC6

Sources for Simpson-Golabi-Behmel Syndrome, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet