MCID: GRG001
MIFTS: 52

Greig Cephalopolysyndactyly Syndrome

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

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

MalaCards integrated aliases for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 57 12 24 53 25 59 29 13 55 6 44 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 15 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 pallister-hall syndrome and acrocallosal syndrome. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Pathways in cancer and Signaling by Hedgehog. The drug Menthol has been mentioned in the context of this disorder. 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 14)
# Related Disease Score Top Affiliating Genes
1 pallister-hall syndrome 29.3 GLI2 GLI3 KIF7
2 acrocallosal syndrome 29.3 GLI3 KIF7
3 polydactyly 10.1
4 synostosis 10.1
5 esotropia 10.1
6 chromosome 7p deletion 10.1
7 prostate cancer 10.0
8 prostatitis 10.0
9 esophageal atresia 9.9 GLI2 GLI3
10 breast cancer 9.8
11 crohn's disease 9.8
12 hypertelorism 9.8
13 infratentorial cancer 9.8 GLI2 GLI3
14 basal cell nevus syndrome 9.4 GLI2 GLI3 KIF7

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

GenomeRNAi Phenotypes related to Greig Cephalopolysyndactyly Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-5 8.8 GLI2 GLI3 PGAM2

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

Drugs for Greig Cephalopolysyndactyly Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666

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, Pancreas

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 31)
# 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
Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome. ( 25714367 )
2015
3
Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report. ( 25297527 )
2014
4
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. ( 25606469 )
2014
5
Crossed polydactyly and Greig cephalopolysyndactyly syndrome. ( 24222286 )
2013
6
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. ( 21326280 )
2011
7
MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome. ( 22043488 )
2011
8
Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization. ( 19933491 )
2009
9
The clinical atlas of Greig cephalopolysyndactyly syndrome. ( 18241058 )
2008
10
The Greig cephalopolysyndactyly syndrome. ( 18435847 )
2008
11
Greig cephalopolysyndactyly syndrome in a family. ( 16927636 )
2006
12
Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations. ( 16912002 )
2006
13
Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS). ( 16829355 )
2006
14
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. ( 12794692 )
2003
15
Gene symbol: GLI3. Disease: Greig cephalopolysyndactyly syndrome. ( 12575660 )
2003
16
A Turkish family with Greig cephalopolysyndactyly syndrome. ( 10770668 )
1999
17
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. ( 9520255 )
1997
18
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. ( 8985483 )
1996
19
Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region. ( 8001967 )
1994
20
Greig cephalopolysyndactyly syndrome in a large family: a comparison of the clinical signs with those described in the literature. ( 8205322 )
1994
21
Greig Cephalopolysyndactyly Syndrome ( 20301619 )
1993
22
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. ( 8387379 )
1993
23
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). ( 1322743 )
1992
24
A 2.5-Mb physical map within 3p21.1 spans the breakpoint associated with Greig cephalopolysyndactyly syndrome. ( 1662666 )
1991
25
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). ( 3239570 )
1988
26
The occurrence of a fibro-osseous lesion and multiple dental anomalies in a patient with the Greig cephalopolysyndactyly syndrome. ( 2847100 )
1988
27
The Greig cephalopolysyndactyly syndrome. ( 3025136 )
1986
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. ( 3901752 )
1985
29
Greig cephalopolysyndactyly syndrome. Report of a sporadic case. ( 3007398 )
1985
30
The Greig cephalopolysyndactyly syndrome in a Canadian family. ( 6295159 )
1982
31
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 361)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLI3 GLI3, DEL deletion Pathogenic
2 GLI3 NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs121917711 GRCh37 Chromosome 7, 42018218: 42018218
3 GLI3 NM_000168.5(GLI3): c.1627G> T (p.Glu543Ter) single nucleotide variant Pathogenic rs121917711 GRCh38 Chromosome 7, 41978619: 41978619
4 GLI3 NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp) single nucleotide variant Pathogenic rs121917712 GRCh37 Chromosome 7, 42012166: 42012166
5 GLI3 NM_000168.5(GLI3): c.1873C> T (p.Arg625Trp) single nucleotide variant Pathogenic rs121917712 GRCh38 Chromosome 7, 41972567: 41972567
6 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh37 Chromosome 7, 42079797: 42079797
7 GLI3 NM_000168.5(GLI3): c.868C> T (p.Arg290Ter) single nucleotide variant Pathogenic rs121917713 GRCh38 Chromosome 7, 42040198: 42040198
8 GLI3 NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121917714 GRCh37 Chromosome 7, 42007251: 42007251
9 GLI3 NM_000168.5(GLI3): c.2374C> T (p.Arg792Ter) single nucleotide variant Pathogenic rs121917714 GRCh38 Chromosome 7, 41967653: 41967653
10 GLI3 NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs121917715 GRCh37 Chromosome 7, 42063078: 42063078
11 GLI3 NM_000168.5(GLI3): c.1486C> T (p.Gln496Ter) single nucleotide variant Pathogenic rs121917715 GRCh38 Chromosome 7, 42023479: 42023479
12 GLI3 GLI3, 4-BP DEL, 4542CCAC deletion Pathogenic
13 GLI3 GLI3, 1-BP DEL, 1018A deletion Pathogenic
14 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh37 Chromosome 7, 42005845: 42005845
15 GLI3 NM_000168.5(GLI3): c.2826G> C (p.Pro942=) single nucleotide variant Benign/Likely benign rs34245321 GRCh38 Chromosome 7, 41966247: 41966247
16 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh37 Chromosome 7, 42005007: 42005007
17 GLI3 NM_000168.5(GLI3): c.3664C> T (p.Pro1222Ser) single nucleotide variant Benign/Likely benign rs118149040 GRCh38 Chromosome 7, 41965409: 41965409
18 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh37 Chromosome 7, 42005836: 42005836
19 GLI3 NM_000168.5(GLI3): c.2835G> C (p.Leu945=) single nucleotide variant Benign/Likely benign rs61758978 GRCh38 Chromosome 7, 41966238: 41966238
20 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh38 Chromosome 7, 42026234: 42026234
21 GLI3 NM_000168.5(GLI3): c.1207G> A (p.Val403Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs201070431 GRCh37 Chromosome 7, 42065833: 42065833
22 GLI3 NM_000168.5(GLI3): c.2424A> G (p.Ile808Met) single nucleotide variant Benign/Likely benign rs62622373 GRCh37 Chromosome 7, 42007201: 42007201
23 GLI3 NM_000168.5(GLI3): c.2424A> G (p.Ile808Met) single nucleotide variant Benign/Likely benign rs62622373 GRCh38 Chromosome 7, 41967603: 41967603
24 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Likely benign rs77886553 GRCh37 Chromosome 7, 42003898: 42003898
25 GLI3 NM_000168.5(GLI3): c.*30G> T single nucleotide variant Likely benign rs77886553 GRCh38 Chromosome 7, 41964300: 41964300
26 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh37 Chromosome 7, 42003917: 42003917
27 GLI3 NM_000168.5(GLI3): c.*11A> G single nucleotide variant Likely benign rs139896177 GRCh38 Chromosome 7, 41964319: 41964319
28 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh37 Chromosome 7, 42004062: 42004062
29 GLI3 NM_000168.5(GLI3): c.4609C> T (p.Arg1537Cys) single nucleotide variant Benign/Likely benign rs35364414 GRCh38 Chromosome 7, 41964464: 41964464
30 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh38 Chromosome 7, 41965002: 41965002
31 GLI3 NM_000168.5(GLI3): c.4071C> T (p.Tyr1357=) single nucleotide variant Benign rs34089404 GRCh37 Chromosome 7, 42004600: 42004600
32 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh37 Chromosome 7, 42004651: 42004651
33 GLI3 NM_000168.5(GLI3): c.4020C> T (p.Pro1340=) single nucleotide variant Benign/Likely benign rs35139358 GRCh38 Chromosome 7, 41965053: 41965053
34 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh37 Chromosome 7, 42004664: 42004664
35 GLI3 NM_000168.5(GLI3): c.4007G> A (p.Gly1336Glu) single nucleotide variant Benign/Likely benign rs35280470 GRCh38 Chromosome 7, 41965066: 41965066
36 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh37 Chromosome 7, 42004777: 42004777
37 GLI3 NM_000168.5(GLI3): c.3894G> A (p.Pro1298=) single nucleotide variant Likely benign rs530418832 GRCh38 Chromosome 7, 41965179: 41965179
38 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh37 Chromosome 7, 42004897: 42004897
39 GLI3 NM_000168.5(GLI3): c.3774C> G (p.Leu1258=) single nucleotide variant Benign/Likely benign rs35448119 GRCh38 Chromosome 7, 41965299: 41965299
40 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh38 Chromosome 7, 41966080: 41966080
41 GLI3 NM_000168.5(GLI3): c.2993C> T (p.Pro998Leu) single nucleotide variant Benign rs929387 GRCh37 Chromosome 7, 42005678: 42005678
42 GLI3 NM_000168.5(GLI3): c.2373G> A (p.Pro791=) single nucleotide variant Benign/Likely benign rs61754622 GRCh37 Chromosome 7, 42007252: 42007252
43 GLI3 NM_000168.5(GLI3): c.2373G> A (p.Pro791=) single nucleotide variant Benign/Likely benign rs61754622 GRCh38 Chromosome 7, 41967654: 41967654
44 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh37 Chromosome 7, 42018336: 42018336
45 GLI3 NM_000168.5(GLI3): c.1509C> T (p.Asn503=) single nucleotide variant Benign/Likely benign rs34020684 GRCh38 Chromosome 7, 41978737: 41978737
46 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh37 Chromosome 7, 42063171: 42063171
47 GLI3 NM_000168.5(GLI3): c.1393G> C (p.Gly465Arg) single nucleotide variant Benign/Likely benign rs35488756 GRCh38 Chromosome 7, 42023572: 42023572
48 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh37 Chromosome 7, 42064852: 42064852
49 GLI3 NM_000168.5(GLI3): c.1356+11G> C single nucleotide variant Benign rs846273 GRCh38 Chromosome 7, 42025253: 42025253
50 GLI3 NM_000168.5(GLI3): c.1029-7C> T single nucleotide variant Benign rs78280303 GRCh37 Chromosome 7, 42066018: 42066018

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

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 cilium GO:0005929 9.33 GLI2 GLI3 KIF7
2 axoneme GO:0005930 9.26 GLI2 GLI3
3 ciliary base GO:0097546 8.96 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 all 28)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.8 ACY1 GCK PGAM2
2 kidney development GO:0001822 9.64 GLI2 GLI3
3 anterior/posterior pattern specification GO:0009952 9.63 GLI2 GLI3
4 lung development GO:0030324 9.63 GLI2 GLI3
5 smoothened signaling pathway GO:0007224 9.62 GLI2 GLI3
6 embryonic digit morphogenesis GO:0042733 9.61 GLI2 GLI3
7 odontogenesis of dentin-containing tooth GO:0042475 9.61 GLI2 GLI3
8 pattern specification process GO:0007389 9.6 GLI2 GLI3
9 neural tube development GO:0021915 9.59 GLI2 GLI3
10 dorsal/ventral pattern formation GO:0009953 9.58 GLI2 GLI3
11 glycolytic process GO:0006096 9.58 GCK PGAM2
12 mammary gland development GO:0030879 9.57 GLI2 GLI3
13 anatomical structure development GO:0048856 9.56 GLI2 GLI3
14 branching morphogenesis of an epithelial tube GO:0048754 9.55 GLI2 GLI3
15 developmental growth GO:0048589 9.54 GLI2 GLI3
16 canonical glycolysis GO:0061621 9.52 GCK PGAM2
17 negative regulation of smoothened signaling pathway GO:0045879 9.51 GLI3 KIF7
18 anatomical structure formation involved in morphogenesis GO:0048646 9.49 GLI2 GLI3
19 proximal/distal pattern formation GO:0009954 9.48 GLI2 GLI3
20 spinal cord motor neuron differentiation GO:0021522 9.46 GLI2 GLI3
21 embryonic digestive tract development GO:0048566 9.43 GLI2 GLI3
22 prostate gland development GO:0030850 9.4 GLI2 GLI3
23 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.37 GLI2 GLI3
24 spinal cord dorsal/ventral patterning GO:0021513 9.32 GLI2 GLI3
25 hindgut morphogenesis GO:0007442 9.26 GLI2 GLI3
26 tube development GO:0035295 9.16 GLI2 GLI3
27 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 8.96 GLI2 GLI3
28 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 8.62 GLI2 GLI3

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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