GCPS
MCID: GRG001
MIFTS: 58

Greig Cephalopolysyndactyly Syndrome (GCPS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

MalaCards integrated aliases for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 57 12 24 53 25 59 37 29 13 55 6 44 15
Gcps 57 53 25 59 75
Polysyndactyly with Peculiar Skull Shape 57 53
Cephalopolysyndactyly Syndrome 24 25
Polysyndactyly with Peculiars Skull Shape 12
Greig Cephalo-Poly-Syndactyly Syndrome 75
Cephalopolysyndactyly, Greig Syndrome 40
Aarskog Syndrome 73
Greig Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
greig cephalopolysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable expressivity


HPO:

32
greig cephalopolysyndactyly syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance One case of apparent non-penetrance has been reported [debeer et al 2003]. it is difficult to estimate a rate of non-penetrance from a single instance, but it is probably a small fraction...

Classifications:



Summaries for Greig Cephalopolysyndactyly Syndrome

NIH Rare Diseases : 53 Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.

MalaCards based summary : Greig Cephalopolysyndactyly Syndrome, also known as gcps, is related to acrocallosal syndrome and polydactyly. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include skin, eye and bone, and related phenotypes are macrocephaly and hypertelorism

Disease Ontology : 12 An acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face.

Genetics Home Reference : 25 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures, delayed development, and intellectual disability.

OMIM : 57 Greig cephalopolysyndactyly syndrome is characterized by frontal bossing, scaphocephaly, and hypertelorism associated with pre- and postaxial polydactyly and variable syndactyly. The phenotype shows variable expressivity and can also include craniosynostosis. Affected individuals usually have normal psychomotor development (summary by Gorlin et al., 2001). (175700)

UniProtKB/Swiss-Prot : 75 Greig cephalo-poly-syndactyly syndrome: Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.

Wikipedia : 76 Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and... more...

GeneReviews: NBK1446

Related Diseases for Greig Cephalopolysyndactyly Syndrome

Diseases related to Greig Cephalopolysyndactyly Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 acrocallosal syndrome 30.2 KIF7 GLI3
2 polydactyly 30.1 SHH GLI3 GLI2
3 pallister-hall syndrome 29.9 SHH KIF7 GLI3 GLI2
4 synostosis 10.3
5 esotropia 10.3
6 chromosome 7p deletion 10.3
7 culler-jones syndrome 10.2 GLI3 GLI2
8 prostate cancer 10.1
9 hypertelorism 10.1
10 holoprosencephaly, recurrent infections, and monocytosis 10.1 PTCH1 GLI2
11 calcifying epithelial odontogenic tumor 10.1 PTCH1 GLI2
12 nodular medulloblastoma 10.1 PTCH1 GLI2
13 diabetes mellitus, noninsulin-dependent 10.0
14 crohn's disease 10.0
15 diabetes mellitus 10.0
16 morphine dependence 10.0
17 pain - chronic 10.0
18 holoprosencephaly 4 10.0 SHH GLI3
19 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.0 SHH GLI2
20 disuse amblyopia 9.9 SHH GLI2
21 tracheoesophageal fistula 9.9 SHH GLI3
22 agnathia-otocephaly complex 9.9 SHH GLI2
23 keratocystic odontogenic tumor 9.9 SHH PTCH1
24 esophageal atresia 9.9 SHH GLI3 GLI2
25 focal epithelial hyperplasia 9.9 SHH GLI3 GLI2
26 adult medulloblastoma 9.9 SHH PTCH1
27 brachydactyly, type a1 9.9 SHH PTCH1
28 midline interhemispheric variant of holoprosencephaly 9.8 SHH PTCH1 GLI2
29 septopreoptic holoprosencephaly 9.8 SHH PTCH1 GLI2
30 alobar holoprosencephaly 9.8 SHH PTCH1 GLI2
31 lobar holoprosencephaly 9.8 SHH PTCH1 GLI2
32 microform holoprosencephaly 9.8 SHH PTCH1 GLI2
33 semilobar holoprosencephaly 9.8 SHH PTCH1 GLI2
34 bardet-biedl syndrome 17 9.8 SHH PTCH1 GLI2
35 hydrolethalus syndrome 1 9.7 SHH KIF7
36 infratentorial cancer 9.7 SHH PTCH1 GLI3 GLI2
37 holoprosencephaly 9.7 SHH PTCH1 GLI3 GLI2
38 central nervous system cancer 9.7 SHH PTCH1
39 brain cancer 9.7 SHH PTCH1 GLI3
40 basal cell carcinoma 9.7 SHH PTCH1 GLI3 GLI2
41 medulloblastoma 9.7 SHH PTCH1 GLI3 GLI2
42 basal cell nevus syndrome 9.5 SHH PTCH1 KIF7 GLI3 GLI2

Graphical network of the top 20 diseases related to Greig Cephalopolysyndactyly Syndrome:



Diseases related to Greig Cephalopolysyndactyly Syndrome

Symptoms & Phenotypes for Greig Cephalopolysyndactyly Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
trigonocephaly
scaphocephaly

Neurologic Central Nervous System:
agenesis of corpus callosum
normal intelligence
mental retardation, mild (rare)
hydrocephaly

Genitourinary External Genitalia Male:
inguinal hernia

Skeletal Skull:
craniosynostosis
broad late closing cranial sutures
metopic synostosis (rare)

Skeletal Feet:
camptodactyly
preaxial polydactyly
broad halluces
syndactyly (usually toes 1 to 3)
postaxial polydactyly (rare)

Head And Neck Nose:
broad nasal root

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
high forehead

Abdomen External Features:
umbilical hernia

Skeletal Hands:
camptodactyly
postaxial polydactyly
broad thumbs
syndactyly (usually fingers 3 and 4)
preaxial polydactyly (variable)

Skeletal:
advanced bone age

Laboratory Abnormalities:
translocation or deletions involving 7p13 (severe case reports)


Clinical features from OMIM:

175700

Human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 very rare (1%) Very frequent (99-80%) HP:0000256
2 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
3 agenesis of corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0001274
4 frontal bossing 59 32 very rare (1%) Frequent (79-30%) HP:0002007
5 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
6 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
7 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
8 wide nasal bridge 59 32 very rare (1%) Frequent (79-30%) HP:0000431
9 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
10 broad hallux phalanx 59 32 frequent (33%) Occasional (29-5%) HP:0010059
11 broad thumb 59 32 frequent (33%) Occasional (29-5%) HP:0011304
12 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
13 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
14 high forehead 59 32 very rare (1%) Frequent (79-30%) HP:0000348
15 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
16 preaxial hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001177
17 toe syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001770
18 postaxial hand polydactyly 59 32 very rare (1%) Very frequent (99-80%) HP:0001162
19 postaxial foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001830
20 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
21 accelerated skeletal maturation 59 32 occasional (7.5%) Frequent (79-30%) HP:0005616
22 preaxial foot polydactyly 59 32 frequent (33%) Very frequent (99-80%) HP:0001841
23 inguinal hernia 32 occasional (7.5%) HP:0000023
24 cryptorchidism 32 occasional (7.5%) HP:0000028
25 hypospadias 32 occasional (7.5%) HP:0000047
26 downslanted palpebral fissures 32 occasional (7.5%) HP:0000494
27 abnormality of muscle fibers 32 occasional (7.5%) HP:0004303
28 trigonocephaly 32 HP:0000243
29 delayed cranial suture closure 32 occasional (7.5%) HP:0000270
30 hirsutism 32 occasional (7.5%) HP:0001007
31 abnormal heart morphology 32 occasional (7.5%) HP:0001627
32 camptodactyly of toe 32 occasional (7.5%) HP:0001836
33 hyperglycemia 32 occasional (7.5%) HP:0003074
34 broad hallux 32 very rare (1%) HP:0010055
35 joint contracture of the hand 32 occasional (7.5%) HP:0009473
36 metopic synostosis 32 occasional (7.5%) HP:0011330
37 3-4 finger syndactyly 32 frequent (33%) HP:0006097
38 scaphocephaly 32 HP:0030799
39 1-3 toe syndactyly 32 very rare (1%) HP:0001459

MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 GLI2 GLI3 KIF7 PTCH1 SHH
2 digestive/alimentary MP:0005381 9.83 GLI2 GLI3 KIF7 PTCH1 SHH
3 embryo MP:0005380 9.8 GLI2 GLI3 KIF7 PTCH1 SHH
4 limbs/digits/tail MP:0005371 9.72 GLI2 GLI3 KIF7 PTCH1 SHH
5 hearing/vestibular/ear MP:0005377 9.67 GLI2 GLI3 PTCH1 SHH
6 no phenotypic analysis MP:0003012 9.65 GLI2 GLI3 KIF7 PTCH1 SHH
7 respiratory system MP:0005388 9.55 GLI2 GLI3 KIF7 PTCH1 SHH
8 taste/olfaction MP:0005394 9.13 GLI3 PTCH1 SHH
9 vision/eye MP:0005391 9.02 GLI2 GLI3 KIF7 PTCH1 SHH

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404

Search NIH Clinical Center for Greig Cephalopolysyndactyly Syndrome

Cochrane evidence based reviews: greig cephalopolysyndactyly syndrome

Genetic Tests for Greig Cephalopolysyndactyly Syndrome

Genetic tests related to Greig Cephalopolysyndactyly Syndrome:

# Genetic test Affiliating Genes
1 Greig Cephalopolysyndactyly Syndrome 29 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

41
Skin, Eye, Bone, Heart, Brain, Prostate, Thyroid

The Foundational Model of Anatomy Ontology organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

19
Limb, Head, Face

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show all 39)
# Title Authors Year
1
Novel GLI3 variant causing overlapped Greig cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) phenotype with agenesis of gallbladder and pancreas. ( 29368652 )
2018
2
Block Adjustment without GCPs for Chinese Spaceborne SAR GF-3 Imagery. ( 30453696 )
2018
3
Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery. ( 25777356 )
2016
4
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. ( 25714367 )
2015
5
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. ( 25297527 )
2014
6
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. ( 25606469 )
2014
7
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. ( 24222286 )
2013
8
GMPs and GCPs: a topical comparison. ( 23627250 )
2013
9
GMPs vs GCPs: manufacturing and compounding definitions. ( 24459778 )
2013
10
GMPs vs GCPs: United States Pharmacopeia General Chapters. ( 24459791 )
2013
11
On-site management of investigational products and drug delivery systems in conformity with Good Clinical Practices (GCPs). ( 22222352 )
2012
12
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. ( 21326280 )
2011
13
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. ( 22043488 )
2011
14
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. ( 19933491 )
2009
15
The clinical atlas of Greig cephalopolysyndactyly syndrome. ( 18241058 )
2008
16
The Greig cephalopolysyndactyly syndrome. ( 18435847 )
2008
17
Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7). ( 23776344 )
2008
18
Randomised controlled comparison of the Health Survey Short Form (SF-12) and the Graded Chronic Pain Scale (GCPS) in telephone interviews versus self-administered questionnaires. Are the results equivalent? ( 18034900 )
2007
19
Greig cephalopolysyndactyly syndrome in a family. ( 16927636 )
2006
20
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. ( 16912002 )
2006
21
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). ( 16829355 )
2006
22
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. ( 12794692 )
2003
23
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. ( 12575660 )
2003
24
A Turkish family with Greig cephalopolysyndactyly syndrome. ( 10770668 )
1999
25
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. ( 9520255 )
1997
26
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. ( 8985483 )
1996
27
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. ( 8001967 )
1994
28
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. ( 8205322 )
1994
29
Greig Cephalopolysyndactyly Syndrome ( 20301619 )
1993
30
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. ( 8387379 )
1993
31
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). ( 1322743 )
1992
32
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. ( 1662666 )
1991
33
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). ( 3239570 )
1988
34
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. ( 2847100 )
1988
35
The Greig cephalopolysyndactyly syndrome. ( 3025136 )
1986
36
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. ( 3901752 )
1985
37
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. ( 3007398 )
1985
38
The Greig cephalopolysyndactyly syndrome in a Canadian family. ( 6295159 )
1982
39
Greig cephalopolysyndactyly syndrome. ( 223435 )
1979

Variations for Greig Cephalopolysyndactyly Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 GLI3 p.Cys515Gly VAR_010053
2 GLI3 p.Cys520Tyr VAR_010054
3 GLI3 p.Pro707Ser VAR_010055 rs121917716
4 GLI3 p.Arg625Trp VAR_021481 rs121917712
5 GLI3 p.Ala934Pro VAR_021482 rs28933372

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6 (show top 50) (show all 446)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGD1 FGD1, 1-BP INS, 2122G insertion Pathogenic
2 FGD1 NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln) single nucleotide variant Pathogenic rs28935497 GRCh37 Chromosome X, 54482666: 54482666
3 FGD1 NM_004463.2(FGD1): c.1829G> A (p.Arg610Gln) single nucleotide variant Pathogenic rs28935497 GRCh38 Chromosome X, 54456233: 54456233
4 FGD1 NM_004463.2(FGD1): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs137853264 GRCh37 Chromosome X, 54491955: 54491955
5 FGD1 NM_004463.2(FGD1): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs137853264 GRCh38 Chromosome X, 54465522: 54465522
6 FGD1 FGD1, EX9-12DEL deletion Pathogenic
7 FGD1 NM_004463.2(FGD1): c.935C> T (p.Pro312Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28935498 GRCh37 Chromosome X, 54496615: 54496615
8 FGD1 NM_004463.2(FGD1): c.935C> T (p.Pro312Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs28935498 GRCh38 Chromosome X, 54470182: 54470182
9 FGD1 FGD1, 1-BP INS, 528C insertion Pathogenic
10 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh37 Chromosome X, 54494334: 54494334
11 FGD1 NM_004463.2(FGD1): c.1223G> A (p.Arg408Gln) single nucleotide variant Pathogenic rs137853265 GRCh38 Chromosome X, 54467901: 54467901
12 FGD1 FGD1, 1-BP DEL, 2189A deletion Pathogenic
13 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh37 Chromosome X, 54494229: 54494229
14 FGD1 NM_004463.2(FGD1): c.1328G> T (p.Arg443Leu) single nucleotide variant Pathogenic rs137853266 GRCh38 Chromosome X, 54467796: 54467796
15 FGD1 FGD1, 1-BP INS, 945C insertion Pathogenic
16 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh37 Chromosome X, 54492230: 54492230
17 FGD1 NM_004463.2(FGD1): c.1396A> G (p.Met466Val) single nucleotide variant Pathogenic rs137853267 GRCh38 Chromosome X, 54465797: 54465797
18 GLI3 GLI3, DEL deletion Pathogenic
19 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh37 Chromosome 7, 42007446: 42007446
20 GLI3 NM_000168.5(GLI3): c.2179G> A (p.Gly727Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121917710 GRCh38 Chromosome 7, 41967848: 41967848
21 GLI3 NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs121917711 GRCh37 Chromosome 7, 42018218: 42018218
22 GLI3 NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs121917711 GRCh38 Chromosome 7, 41978619: 41978619
23 GLI3 NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp) single nucleotide variant Pathogenic rs121917712 GRCh37 Chromosome 7, 42012166: 42012166
24 GLI3 NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp) single nucleotide variant Pathogenic rs121917712 GRCh38 Chromosome 7, 41972567: 41972567
25 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
26 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh38 Chromosome 7, 42040198: 42040198
27 GLI3 NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121917714 GRCh37 Chromosome 7, 42007251: 42007251
28 GLI3 NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121917714 GRCh38 Chromosome 7, 41967653: 41967653
29 GLI3 NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs121917715 GRCh37 Chromosome 7, 42063078: 42063078
30 GLI3 NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs121917715 GRCh38 Chromosome 7, 42023479: 42023479
31 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh37 Chromosome 7, 42007506: 42007506
32 GLI3 NM_000168.5(GLI3): c.2119C> T (p.Pro707Ser) single nucleotide variant Uncertain significance rs121917716 GRCh38 Chromosome 7, 41967908: 41967908
33 GLI3 GLI3, 4-BP DEL, 4542CCAC deletion Pathogenic
34 GLI3 GLI3, 1-BP DEL, 1018A deletion Pathogenic
35 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh38 Chromosome X, 54455497: 54455497
36 FGD1 NM_004463.2(FGD1): c.1966C> T (p.Arg656Ter) single nucleotide variant Pathogenic rs387906718 GRCh37 Chromosome X, 54481930: 54481930
37 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh37 Chromosome X, 54494270: 54494270
38 FGD1 NM_004463.2(FGD1): c.1287T> G (p.Tyr429Ter) single nucleotide variant Pathogenic rs398124155 GRCh38 Chromosome X, 54467837: 54467837
39 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh37 Chromosome X, 54492158: 54492158
40 FGD1 NM_004463.2(FGD1): c.1468C> T (p.Gln490Ter) single nucleotide variant Pathogenic rs398124156 GRCh38 Chromosome X, 54465725: 54465725
41 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh37 Chromosome X, 54521691: 54521691
42 FGD1 NM_004463.2(FGD1): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs398124160 GRCh38 Chromosome X, 54495258: 54495258
43 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh37 Chromosome X, 54476127: 54476128
44 FGD1 NM_004463.2(FGD1): c.2112_2113insTT (p.Asn705Leufs) insertion Pathogenic rs398124161 GRCh38 Chromosome X, 54449694: 54449695
45 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh37 Chromosome X, 54476105: 54476105
46 FGD1 NM_004463.2(FGD1): c.2135dupC (p.Pro713Thrfs) duplication Pathogenic rs398124162 GRCh38 Chromosome X, 54449672: 54449672
47 FGD1 NM_004463.2(FGD1): c.395G> A (p.Arg132Gln) single nucleotide variant Benign/Likely benign rs145644275 GRCh37 Chromosome X, 54497833: 54497833
48 FGD1 NM_004463.2(FGD1): c.395G> A (p.Arg132Gln) single nucleotide variant Benign/Likely benign rs145644275 GRCh38 Chromosome X, 54471400: 54471400
49 GLI3 NM_000168.5(GLI3): c.3083G> T (p.Ser1028Ile) single nucleotide variant Benign/Likely benign rs79049330 GRCh37 Chromosome 7, 42005588: 42005588
50 GLI3 NM_000168.5(GLI3): c.3083G> T (p.Ser1028Ile) single nucleotide variant Benign/Likely benign rs79049330 GRCh38 Chromosome 7, 41965990: 41965990

Copy number variations for Greig Cephalopolysyndactyly Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 225048 7 41967072 42243321 Deletion GLI3 Greig cephalo-polysyndactyly syndrome
2 225147 7 43300000 46600000 Copy number GLI3 Greig cephalo-polysyndactyly syndrome

Expression for Greig Cephalopolysyndactyly Syndrome

Search GEO for disease gene expression data for Greig Cephalopolysyndactyly Syndrome.

Pathways for Greig Cephalopolysyndactyly Syndrome

Pathways related to Greig Cephalopolysyndactyly Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Greig Cephalopolysyndactyly Syndrome

Cellular components related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.56 FGD1 GLI2 GLI3 KIF7
2 cilium GO:0005929 9.26 GLI2 GLI3 KIF7 PTCH1
3 ciliary base GO:0097546 9.16 GLI2 GLI3
4 ciliary tip GO:0097542 8.8 GLI2 GLI3 KIF7

Biological processes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.9 GLI2 GLI3 SHH
2 axon guidance GO:0007411 9.89 GLI2 GLI3 SHH
3 in utero embryonic development GO:0001701 9.88 GLI2 GLI3 PTCH1
4 regulation of cell proliferation GO:0042127 9.86 GLI3 PTCH1 SHH
5 kidney development GO:0001822 9.84 GLI2 GLI3 SHH
6 anterior/posterior pattern specification GO:0009952 9.83 GLI2 GLI3 SHH
7 lung development GO:0030324 9.82 GLI2 GLI3 SHH
8 embryonic digit morphogenesis GO:0042733 9.81 GLI2 GLI3 SHH
9 odontogenesis of dentin-containing tooth GO:0042475 9.8 GLI2 GLI3 SHH
10 embryonic limb morphogenesis GO:0030326 9.8 GLI3 PTCH1 SHH
11 protein processing GO:0016485 9.74 GLI3 PTCH1
12 branching involved in ureteric bud morphogenesis GO:0001658 9.74 GLI3 PTCH1 SHH
13 inner ear development GO:0048839 9.73 GLI3 SHH
14 neural tube development GO:0021915 9.73 GLI2 GLI3
15 limb development GO:0060173 9.73 GLI3 SHH
16 glycolytic process GO:0006096 9.73 GCK PGAM2
17 liver regeneration GO:0097421 9.73 GLI3 PTCH1
18 mammary gland development GO:0030879 9.73 GLI2 GLI3 PTCH1
19 metanephros development GO:0001656 9.72 GLI3 SHH
20 positive regulation of protein import into nucleus GO:0042307 9.72 GLI3 SHH
21 positive regulation of smoothened signaling pathway GO:0045880 9.72 KIF7 SHH
22 oligodendrocyte differentiation GO:0048709 9.72 GLI3 SHH
23 embryonic organ development GO:0048568 9.72 GLI3 PTCH1 SHH
24 T cell differentiation in thymus GO:0033077 9.71 GLI3 SHH
25 neuron fate commitment GO:0048663 9.71 GLI3 SHH
26 developmental growth GO:0048589 9.71 GLI2 GLI3 SHH
27 smoothened signaling pathway GO:0007224 9.71 GLI2 GLI3 PTCH1 SHH
28 canonical glycolysis GO:0061621 9.7 GCK PGAM2
29 proximal/distal pattern formation GO:0009954 9.7 GLI2 GLI3
30 regulation of smoothened signaling pathway GO:0008589 9.7 GLI2 PTCH1
31 limb morphogenesis GO:0035108 9.7 GLI3 PTCH1
32 branching morphogenesis of an epithelial tube GO:0048754 9.7 GLI2 GLI3 SHH
33 renal system development GO:0072001 9.69 PTCH1 SHH
34 positive regulation of neuroblast proliferation GO:0002052 9.69 GLI3 SHH
35 anatomical structure development GO:0048856 9.69 GLI2 GLI3 SHH
36 hindbrain development GO:0030902 9.68 GLI2 SHH
37 osteoblast development GO:0002076 9.68 GLI2 SHH
38 embryonic digestive tract development GO:0048566 9.68 GLI2 GLI3
39 embryonic digestive tract morphogenesis GO:0048557 9.68 GLI3 SHH
40 embryonic morphogenesis GO:0048598 9.67 GLI3 SHH
41 somite development GO:0061053 9.67 PTCH1 SHH
42 negative regulation of smoothened signaling pathway GO:0045879 9.67 GLI3 KIF7 PTCH1
43 pattern specification process GO:0007389 9.67 GLI2 GLI3 PTCH1 SHH
44 negative thymic T cell selection GO:0045060 9.66 GLI3 SHH
45 positive regulation of alpha-beta T cell differentiation GO:0046638 9.65 GLI3 SHH
46 positive regulation of T cell differentiation in thymus GO:0033089 9.65 GLI2 SHH
47 anatomical structure formation involved in morphogenesis GO:0048646 9.65 GLI2 GLI3 SHH
48 artery development GO:0060840 9.64 GLI3 SHH
49 mammary gland duct morphogenesis GO:0060603 9.64 GLI2 PTCH1
50 prostate gland development GO:0030850 9.63 GLI3 PTCH1 SHH

Molecular functions related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 patched binding GO:0005113 8.62 PTCH1 SHH

Sources for Greig Cephalopolysyndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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