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 51 12
Simpson-Golabi-Behmel Syndrome 11 47 25 53 26 38 13
Sgbs1 47 24 25 53 69
Simpson Dysmorphia Syndrome 11 47 53 69
Golabi-Rosen Syndrome 11 47 53 69
Simpson-Golabi-Behmel Syndrome Type 1 23 24 53
Bulldog Syndrome 11 47 69
Sgbs 47 25 53
Dgsx 25 53 69
Sdys 25 53 69
 
X-Linked Dysplasia Gigantism Syndrome 11 53
Mental Retardation-Overgrowth Syndrome 25
Dysplasia Gigantism Syndrome, X-Linked 47
Dysplasia Gigantism Syndrome X-Linked 69
Simpson-Golabi-Behmel Syndrome 1 69
Dgsx Golabi-Rosen Syndrome 11
Simpson Dysplasia Syndrome 25
Sara Angers Syndrome 11
Simpson Syndrome 25
Sgb Syndrome 11

Characteristics:

Orphanet epidemiological data:

53
simpson-golabi-behmel syndrome:
Inheritance: X-linked recessive; Age of onset: Antenatal,Neonatal

HPO:

63
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:

OMIM51 312870
Disease Ontology11 DOID:0060248
NCIt44 C118787
SNOMED-CT61 439143004
Orphanet53 ORPHA373
MESH via Orphanet39 C537340
ICD10 via Orphanet30 Q87.3
MedGen36 C0796154
UMLS67 C0796154

Summaries for Simpson-Golabi-Behmel Syndrome, Type 1

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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.

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.

OMIM:51 Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies,... (312870) more...

UniProtKB/Swiss-Prot:69 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 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:

 63 53 (show all 124)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000003
2 cryptorchidism63 53 hallmark (90%) Very frequent (99-80%) HP:0000028
3 tall stature63 53 hallmark (90%) Very frequent (99-80%) HP:0000098
4 wide mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000154
5 abnormality of the tongue63 hallmark (90%) HP:0000157
6 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
7 coarse facial features63 53 hallmark (90%) Very frequent (99-80%) HP:0000280
8 mandibular prognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000303
9 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
10 abnormality of the ribs63 53 hallmark (90%) Very frequent (99-80%) HP:0000772
11 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
12 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
13 broad foot63 53 hallmark (90%) Very frequent (99-80%) HP:0001769
14 short toe63 53 hallmark (90%) Very frequent (99-80%) HP:0001831
15 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
16 supernumerary nipple63 53 hallmark (90%) Very frequent (99-80%) HP:0002558
17 abnormal form of the vertebral bodies63 hallmark (90%) HP:0003312
18 abnormality of the ureter63 typical (50%) HP:0000069
19 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
20 low-set, posteriorly rotated ears63 53 typical (50%) Frequent (79-30%) HP:0000368
21 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
22 webbed neck63 53 typical (50%) Frequent (79-30%) HP:0000465
23 short neck63 53 typical (50%) Frequent (79-30%) HP:0000470
24 downslanted palpebral fissures63 53 typical (50%) Frequent (79-30%) HP:0000494
25 pectus excavatum63 53 typical (50%) Frequent (79-30%) HP:0000767
26 abnormality of the fingernails63 typical (50%) HP:0001231
27 umbilical hernia63 53 typical (50%) Frequent (79-30%) HP:0001537
28 omphalocele63 53 typical (50%) Frequent (79-30%) HP:0001539
29 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
30 ventricular septal defect63 53 typical (50%) Very frequent (99-80%) HP:0001629
31 atria septal defect63 typical (50%) HP:0001631
32 toe syndactyly63 53 typical (50%) Frequent (79-30%) HP:0001770
33 hypoglycemia63 53 typical (50%) Frequent (79-30%) HP:0001943
34 neurological speech impairment63 53 typical (50%) Frequent (79-30%) HP:0002167
35 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
36 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
37 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
38 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
39 abnormality of thumb phalanx63 typical (50%) HP:0009602
40 aplasia/hypoplasia of the abdominal wall musculature63 53 typical (50%) Frequent (79-30%) HP:0010318
41 abnormality of the helix63 53 typical (50%) Frequent (79-30%) HP:0011039
42 arrhythmia63 typical (50%) HP:0011675
43 camptodactyly of finger63 53 typical (50%) Frequent (79-30%) HP:0100490
44 cleft upper lip63 53 occasional (7.5%) Occasional (29-5%) HP:0000204
45 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
46 congenital diaphragmatic hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0000776
47 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
48 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
49 dandy-walker malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0001305
50 abnormality of the voice63 53 occasional (7.5%) Occasional (29-5%) HP:0001608
51 hypertrophic cardiomyopathy63 occasional (7.5%) HP:0001639
52 abnormality of the pancreas63 occasional (7.5%) HP:0001732
53 talipes63 occasional (7.5%) HP:0001883
54 nephroblastoma63 occasional (7.5%) HP:0002667
55 hepatoblastoma63 53 occasional (7.5%) Occasional (29-5%) HP:0002884
56 neuroblastoma63 53 occasional (7.5%) Occasional (29-5%) HP:0003006
57 accelerated skeletal maturation63 53 occasional (7.5%) Occasional (29-5%) HP:0005616
58 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
59 hypoplasia of penis63 53 occasional (7.5%) Occasional (29-5%) HP:0008736
60 cognitive impairment63 occasional (7.5%) HP:0100543
61 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
62 inguinal hernia63 53 Frequent (79-30%) HP:0000023
63 hypospadias63 53 Occasional (29-5%) HP:0000047
64 enlarged kidneys63 HP:0000105
65 renal cyst63 HP:0000107
66 macroglossia63 53 Very frequent (99-80%) HP:0000158
67 broad secondary alveolar ridge63 HP:0000216
68 hydrocephalus63 HP:0000238
69 hearing impairment63 HP:0000365
70 preauricular skin tag63 HP:0000384
71 wide nasal bridge63 53 Frequent (79-30%) HP:0000431
72 dental malocclusion63 HP:0000689
73 cervical ribs63 HP:0000891
74 broad palm63 HP:0001169
75 2-3 finger syndactyly63 HP:0001233
76 agenesis of corpus callosum63 53 Occasional (29-5%) HP:0001274
77 cerebellar vermis hypoplasia63 HP:0001320
78 diastasis recti63 HP:0001540
79 cardiomyopathy63 53 Occasional (29-5%) HP:0001638
80 pulmonic stenosis63 HP:0001642
81 patent ductus arteriosus63 HP:0001643
82 transposition of the great arteries63 HP:0001669
83 polysplenia63 53 Occasional (29-5%) HP:0001748
84 talipes equinovarus63 53 Occasional (29-5%) HP:0001762
85 short foot63 53 Very frequent (99-80%) HP:0001773
86 small nail63 53 Frequent (79-30%) HP:0001792
87 broad toe63 HP:0001837
88 meckel diverticulum63 HP:0002245
89 intestinal malrotation63 HP:0002566
90 flared iliac wings63 HP:0002869
91 short sacroiliac notch63 HP:0003185
92 vertebral segmentation defect63 53 Very frequent (99-80%) HP:0003422
93 birth length greater than 97th percentile63 HP:0003517
94 short palm63 HP:0004279
95 preauricular pit63 HP:0004467
96 pancreatic islet-cell hyperplasia63 53 Occasional (29-5%) HP:0004510
97 depressed nasal bridge63 HP:0005280
98 duplication of renal pelvis63 HP:0005580
99 two carpal ossification centers present at birth63 HP:0006176
100 obsolete lung segmentation defects63 HP:0006525
101 six lumbar vertebrae63 HP:0008416
102 narrow sacroiliac notch63 HP:0008803
103 submucous cleft lip63 HP:0009101
104 short distal phalanx of finger63 HP:0009882
105 broad thumb63 53 Frequent (79-30%) HP:0011304
106 hydroureter53 Frequent (79-30%)
107 ureteral duplication53 Frequent (79-30%)
108 hydronephrosis53 Frequent (79-30%)
109 intellectual disability53 Occasional (29-5%)
110 global developmental delay53 Occasional (29-5%)
111 congenital hip dislocation53 Occasional (29-5%)
112 death in infancy53 Frequent (79-30%)
113 hoarse voice53 Occasional (29-5%)
114 defect in the atrial septum53 Frequent (79-30%)
115 prolonged qt interval53 Frequent (79-30%)
116 nail dysplasia53 Frequent (79-30%)
117 malformation of the heart and great vessels53 Frequent (79-30%)
118 neoplasm53 Occasional (29-5%)
119 nephroblastoma (wilms tumor)53 Occasional (29-5%)
120 high, narrow palate53 Frequent (79-30%)
121 vertebral fusion53 Very frequent (99-80%)
122 increased ige level53 Very frequent (99-80%)
123 short 2nd finger53 Frequent (79-30%)
124 bundle branch block53 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 Syndrome26
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:

35
Heart, Kidney, Tongue, Pancreatic islet, Pancreas, Lung, Skin

Animal Models for Simpson-Golabi-Behmel Syndrome, Type 1 or affiliated genes

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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:

69
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:009703810.2OSBPL3, OSBPL7
2anchored component of membraneGO:00312259.7GPC1, GPC4, GPC5, GPC6
3lysosomal lumenGO:00432029.7GPC1, GPC3, GPC4, GPC5, GPC6
4Golgi lumenGO:00057969.6GPC1, GPC3, GPC4, GPC5, GPC6
5proteinaceous extracellular matrixGO:00055789.5GPC1, GPC3, GPC4, GPC5, GPC6
6extracellular spaceGO:00056158.8GPC1, GPC3, GPC4, GPC5, GPC6, IGF2
7integral component of plasma membraneGO:00058878.6CD44, GPC1, GPC3, GPC4, GPC5, GPC6
8plasma membraneGO:00058866.6BAMBI, 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
1glycosaminoglycan catabolic processGO:00060279.6GPC1, GPC3, GPC4, GPC5, GPC6
2white fat cell differentiationGO:00508729.5FABP4, PPARG
3glycosaminoglycan biosynthetic processGO:00060249.5GPC1, GPC3, GPC4, GPC5, GPC6
4lipid transportGO:00068699.5OSBPL2, OSBPL3, OSBPL7
5retinoid metabolic processGO:00015239.1GPC1, GPC3, GPC4, GPC5, GPC6
6glycosaminoglycan metabolic processGO:00302038.8GPC1, 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:190492910.2GPC4, GPC6
2heparan sulfate proteoglycan bindingGO:00433959.1GPC1, GPC3, GPC4, GPC5, GPC6
3cholesterol bindingGO:00154859.0OSBPL2, OSBPL3, OSBPL7

Sources for Simpson-Golabi-Behmel Syndrome, Type 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet