GCPS
MCID: GRG001
MIFTS: 63

Greig Cephalopolysyndactyly Syndrome (GCPS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

MalaCards integrated aliases for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 57 11 24 19 42 58 28 12 53 5 43 14 75
Gcps 57 19 42 58 73
Polysyndactyly with Peculiar Skull Shape 57 19
Polysyndactyly with Peculiars Skull Shape 11
Greig Cephalo-Poly-Syndactyly Syndrome 73
Cephalopolysyndactyly, Greig Syndrome 38
Cephalopolysyndactyly Syndrome 42
Aarskog Syndrome 71
Greig Syndrome 19

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

Antenatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable expressivity


HPO:

30
greig cephalopolysyndactyly syndrome:
Onset and clinical course variable expressivity


GeneReviews:

24
Penetrance Apparent non-penetrance has been reported [debeer et al 2003, démurger et al 2015]. however, it is difficult to estimate the rate of non-penetrance because the genetic status of the parents is often unknown in simplex families (i.e., families in which the proband is the only affected individual).

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Greig Cephalopolysyndactyly Syndrome

MedlinePlus Genetics: 42 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.

MalaCards based summary: Greig Cephalopolysyndactyly Syndrome, also known as gcps, is related to polydactyly, postaxial, type a1 and craniosynostosis. An important gene associated with Greig Cephalopolysyndactyly Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. Affiliated tissues include limb, head and face, and related phenotypes are macrocephaly and postaxial hand polydactyly

GARD: 19 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. Greig cephalopolysyndactyly syndrome is caused by genetic changes in the GLI3 gene. This condition is inherited in an autosomal dominant pattern.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 Autosomal dominant disorder affecting limb and craniofacial development. It is characterized by pre- and postaxial polydactyly, syndactyly of fingers and toes, macrocephaly and hypertelorism.

Orphanet: 58 A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.

Disease Ontology: 11 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.

Wikipedia: 75 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 top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 polydactyly, postaxial, type a1 30.4 ZNF141 PTCH1 IQCE GLI3 GLI1 CIBAR1
2 craniosynostosis 29.8 SHH IHH GLI3 GLI2 GLI1 FGF8
3 brachydactyly 29.8 SHH PTCH1 IQCE IHH HOXD13 GLI1
4 synostosis 29.5 ZP2 SHH LMBR1 IHH HOXD13 GLI3
5 acrocallosal syndrome 29.2 ZNF141 TAAR1 SUFU SHH LMBR1 KIF7
6 polydactyly 29.2 ZNF141 SUFU SHH PTCH1 LMBR1 KIF7
7 chromosome 2q35 duplication syndrome 28.9 ZP2 SUFU SHH PTCH1 LMBR1 IQCE
8 basal cell nevus syndrome 28.7 IHH GLI3 GLI2 GLI1 DHH CDON
9 pallister-hall syndrome 27.1 ZP2 ZNF141 TAAR1 SHH PTCH1 LMBR1
10 carpenter syndrome 1 11.4
11 polydactyly, preaxial iv 10.7
12 hypertelorism 10.7
13 polydactyly, preaxial i 10.6
14 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
15 maturity-onset diabetes of the young, type 2 10.3
16 ataxia with vitamin e deficiency 10.3
17 maturity-onset diabetes of the young 10.3
18 radial hemimelia 10.3 SHH LMBR1
19 holoprosencephaly, recurrent infections, and monocytosis 10.3 PTCH1 GLI2
20 fibroepithelial basal cell carcinoma 10.3 PTCH1 GLI1
21 vulva basal cell carcinoma 10.3 SHH PTCH1
22 holoprosencephaly 9 10.2 SHH GLI3 GLI2
23 pericytoma with t(7;12) 10.2 PTCH1 GLI1
24 basosquamous carcinoma 10.2 PTCH1 GLI1
25 holoprosencephaly 6 10.2 SHH PTCH1
26 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.2 SHH LMBR1 GLI3
27 micronodular basal cell carcinoma 10.2 SHH PTCH1 GLI2
28 trachea leiomyoma 10.2 SHH GLI1
29 polydactyly, preaxial ii 10.2 SHH PTCH1 LMBR1
30 acheiropody 10.2 ZP2 SHH LMBR1
31 type 2 diabetes mellitus 10.2
32 small cell cancer of the lung 10.2
33 autism 10.2
34 c syndrome 10.2
35 corpus callosum, agenesis of 10.2
36 autism spectrum disorder 10.2
37 body dysmorphic disorder 10.2
38 microcephaly 10.2
39 hydrocephalus 10.2
40 prediabetes syndrome 10.2
41 enterocele 10.2
42 ichthyosis 10.2
43 hyperglycemia 10.2
44 myopathy 10.2
45 radiculopathy 10.2
46 esotropia 10.2
47 chromosome 7p deletion 10.2
48 monogenic diabetes 10.2
49 cleft palate, cardiac defects, and mental retardation 10.2 SHH LMBR1
50 skin benign neoplasm 10.2 PTCH1 GLI2 GLI1

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



Diseases related to Greig Cephalopolysyndactyly Syndrome

Symptoms & Phenotypes for Greig Cephalopolysyndactyly Syndrome

Human phenotypes related to Greig Cephalopolysyndactyly Syndrome:

58 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000256
2 postaxial hand polydactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001162
3 preaxial foot polydactyly 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001841
4 frontal bossing 58 30 Very rare (1%) Frequent (79-30%)
HP:0002007
5 hypertelorism 58 30 Very rare (1%) Frequent (79-30%)
HP:0000316
6 wide nasal bridge 58 30 Very rare (1%) Frequent (79-30%)
HP:0000431
7 broad hallux phalanx 58 30 Frequent (33%) Occasional (29-5%)
HP:0010059
8 broad thumb 58 30 Frequent (33%) Occasional (29-5%)
HP:0011304
9 telecanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000506
10 high forehead 58 30 Very rare (1%) Frequent (79-30%)
HP:0000348
11 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006101
12 toe syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001770
13 accelerated skeletal maturation 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0005616
14 3-4 finger syndactyly 30 Frequent (33%) HP:0006097
15 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
16 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
17 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
18 umbilical hernia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001537
19 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
20 congenital diaphragmatic hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000776
21 preaxial hand polydactyly 58 30 Very rare (1%) Occasional (29-5%)
HP:0001177
22 craniosynostosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0001363
23 postaxial foot polydactyly 58 30 Very rare (1%) Occasional (29-5%)
HP:0001830
24 inguinal hernia 30 Occasional (7.5%) HP:0000023
25 cryptorchidism 30 Occasional (7.5%) HP:0000028
26 downslanted palpebral fissures 30 Occasional (7.5%) HP:0000494
27 hypospadias 30 Occasional (7.5%) HP:0000047
28 delayed cranial suture closure 30 Occasional (7.5%) HP:0000270
29 abnormal heart morphology 30 Occasional (7.5%) HP:0001627
30 hirsutism 30 Occasional (7.5%) HP:0001007
31 abnormal muscle fiber morphology 30 Occasional (7.5%) HP:0004303
32 camptodactyly of toe 30 Occasional (7.5%) HP:0001836
33 metopic synostosis 30 Occasional (7.5%) HP:0011330
34 hyperglycemia 30 Occasional (7.5%) HP:0003074
35 joint contracture of the hand 30 Occasional (7.5%) HP:0009473
36 global developmental delay 30 Very rare (1%) HP:0001263
37 ventriculomegaly 30 Very rare (1%) HP:0002119
38 broad hallux 30 Very rare (1%) HP:0010055
39 1-3 toe syndactyly 30 Very rare (1%) HP:0001459
40 trigonocephaly 30 HP:0000243
41 scaphocephaly 30 HP:0030799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
trigonocephaly
scaphocephaly

Head And Neck Face:
frontal bossing
high forehead

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

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

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

Genitourinary External Genitalia Male:
inguinal hernia

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 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 10.32 CDON CIBAR1 FGF8 GLI1 GLI2 GLI3
2 growth/size/body region MP:0005378 10.3 ANKUB1 CDON CIBAR1 FGF8 GLI1 GLI2
3 nervous system MP:0003631 10.29 CDON DHH FGF8 GLI1 GLI2 GLI3
4 no phenotypic analysis MP:0003012 10.22 GLI1 GLI2 GLI3 HOXD13 IHH KIF7
5 embryo MP:0005380 10.18 CDON FGF8 GLI1 GLI2 GLI3 HOXD13
6 digestive/alimentary MP:0005381 10.15 CDON DHH FGF8 GLI1 GLI2 GLI3
7 normal MP:0002873 10.14 FGF8 GLI1 GLI2 GLI3 LMBR1 PTCH1
8 endocrine/exocrine gland MP:0005379 10.13 DHH FGF8 GLI1 GLI2 GLI3 HOXD13
9 muscle MP:0005369 10.1 CIBAR1 FGF8 GLI2 HOXD13 IHH KIF7
10 craniofacial MP:0005382 10.02 CDON FGF8 GLI1 GLI2 GLI3 IHH
11 respiratory system MP:0005388 9.96 CDON FGF8 GLI1 GLI2 GLI3 IHH
12 reproductive system MP:0005389 9.85 DHH FGF8 GLI1 GLI2 GLI3 HOXD13
13 skeleton MP:0005390 9.83 ANKUB1 CDON CIBAR1 FGF8 GLI1 GLI2
14 vision/eye MP:0005391 9.36 CDON FGF8 GLI2 GLI3 HOXD13 IHH

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

Search Clinical Trials, 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 28 GLI3

Anatomical Context for Greig Cephalopolysyndactyly Syndrome

Organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

FMA: Limb, Head, Face
MalaCards : Bone, Skin, Heart, Cerebellum, Olfactory Bulb, Brain, Cortex

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show top 50) (show all 544)
# Title Authors PMID Year
1
Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. 53 62 24 57 5
12794692 2003
2
Point mutations in human GLI3 cause Greig syndrome. 53 62 24 57 5
9302279 1997
3
New insights into genotype-phenotype correlation for GLI3 mutations. 62 24 57 5
24736735 2015
4
The Greig cephalopolysyndactyly syndrome. 62 24 57 5
18435847 2008
5
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 62 24 57 5
15739154 2005
6
Metopic craniosynostosis due to mutations in GLI3: A novel association. 62 57 5
20583172 2010
7
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. 53 62 24 57
14608643 2003
8
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 53 62 24 57
12414818 2002
9
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual. 62 57 5
10678662 2000
10
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 53 62 24 5
10441342 1999
11
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. 62 57 5
1879832 1991
12
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 62 24 57
21326280 2011
13
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 57 5
18000979 2007
14
Phenotype of five patients with Greig syndrome and microdeletion of 7p13. 62 24 57
11484201 2001
15
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). 62 24 57
2729360 1989
16
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. 62 24 57
6316787 1983
17
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. 57 5
6641002 1983
18
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. 53 62 57
8387379 1993
19
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). 53 62 57
1322743 1992
20
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 62 5
15811011 2005
21
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. 62 57
8985483 1996
22
Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). 62 57
1289066 1992
23
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 62 57
1650914 1991
24
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. 62 57
1981052 1990
25
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13). 62 57
2545596 1989
26
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. 62 57
3239571 1988
27
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). 62 57
3239570 1988
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. 62 57
3901752 1985
29
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? 62 57
3879437 1985
30
The Greig cephalopolysyndactyly syndrome in a Canadian family. 62 57
6295159 1982
31
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 62 24
31573334 2019
32
Monogenic causes of chronic kidney disease in adults. 5
30773290 2019
33
GLI3-related polydactyly: a review. 5
28224613 2017
34
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. 62 24
25606469 2014
35
A de novo GLI3 mutation in a patient with acrocallosal syndrome. 62 24
23633388 2013
36
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. 62 24
22903559 2012
37
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 62 24
20672375 2010
38
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. 57
20503312 2010
39
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). 62 24
23776344 2008
40
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. 62 24
19308487 2007
41
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. 5
17576681 2007
42
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. 62 24
17098889 2007
43
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
44
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations. 5
10441570 1999
45
Statistical features of human exons and their flanking regions. 5
9536098 1998
46
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. 62 24
9520255 1997
47
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? 57
9220202 1997
48
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 57
8723570 1996
49
A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21. 57
4043965 1985
50
[Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism]. 57
6306158 1982

Variations for Greig Cephalopolysyndactyly Syndrome

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

5 (show top 50) (show all 469)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI3 GLI3, DEL DEL Pathogenic
13813 GRCh37:
GRCh38:
2 GLI3 NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter) SNV Pathogenic
13822 rs121917711 GRCh37: 7:42018218-42018218
GRCh38: 7:41978619-41978619
3 GLI3 NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) SNV Pathogenic
13830 rs121917715 GRCh37: 7:42063078-42063078
GRCh38: 7:42023479-42023479
4 GLI3 NM_000168.6(GLI3):c.1018del (p.Ser340fs) DEL Pathogenic
13833 rs1583500982 GRCh37: 7:42079647-42079647
GRCh38: 7:42040048-42040048
5 GLI3 NM_000168.6(GLI3):c.750del (p.Tyr251fs) DEL Pathogenic
523635 rs1554317931 GRCh37: 7:42085059-42085059
GRCh38: 7:42045460-42045460
6 GLI3 NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) INDEL Pathogenic
577666 rs1562657560 GRCh37: 7:42004759-42004767
GRCh38: 7:41965161-41965169
7 GLI3 NM_000168.6(GLI3):c.1778del (p.Arg593fs) DEL Pathogenic
642780 rs1583747773 GRCh37: 7:42017191-42017191
GRCh38: 7:41977592-41977592
8 GLI3 NM_000168.6(GLI3):c.4202del (p.Ser1401fs) DEL Pathogenic
694705 rs1583728165 GRCh37: 7:42004469-42004469
GRCh38: 7:41964871-41964871
9 overlap with 2 genes GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1 CN LOSS Pathogenic
813836 GRCh37: 7:41397582-42870176
GRCh38:
10 GLI3 NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu) SNV Pathogenic
977930 rs1787394130 GRCh37: 7:42012177-42012177
GRCh38: 7:41972578-41972578
11 GLI3 NM_000168.6(GLI3):c.1793dup (p.Asn598fs) DUP Pathogenic
1120235 GRCh37: 7:42017175-42017176
GRCh38: 7:41977576-41977577
12 GLI3 NM_000168.6(GLI3):c.650C>G (p.Ser217Ter) SNV Pathogenic
1120237 GRCh37: 7:42088119-42088119
GRCh38: 7:42048520-42048520
13 GLI3 NM_000168.6(GLI3):c.1133dup (p.Pro379fs) DUP Pathogenic
1120241 GRCh37: 7:42065906-42065907
GRCh38: 7:42026307-42026308
14 GLI3 NM_000168.6(GLI3):c.3667_3670delinsATCAA (p.Tyr1223fs) INDEL Pathogenic
1120243 GRCh37: 7:42005001-42005004
GRCh38: 7:41965403-41965406
15 GLI3 NM_000168.6(GLI3):c.2432-1G>A SNV Pathogenic
1406215 GRCh37: 7:42006240-42006240
GRCh38: 7:41966642-41966642
16 GLI3 NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs) DEL Pathogenic
972686 rs1787109472 GRCh37: 7:42004232-42004241
GRCh38: 7:41964634-41964643
17 GLI3 NM_000168.6(GLI3):c.602_675del (p.Met201fs) DEL Pathogenic
1358687 GRCh37: 7:42088094-42088167
GRCh38: 7:42048495-42048568
18 GLI3 NM_000168.6(GLI3):c.3956dup (p.Gln1320fs) DUP Pathogenic
1411219 GRCh37: 7:42004714-42004715
GRCh38: 7:41965116-41965117
19 GLI3 NM_000168.6(GLI3):c.473+1G>A SNV Pathogenic
1679890 GRCh37: 7:42116350-42116350
GRCh38: 7:42076751-42076751
20 GLI3 NM_000168.6(GLI3):c.877_881del (p.Thr293fs) DEL Pathogenic
857479 rs1784103216 GRCh37: 7:42079784-42079788
GRCh38: 7:42040185-42040189
21 GLI3 NM_000168.6(GLI3):c.91G>T (p.Glu31Ter) SNV Pathogenic
864278 rs1788520333 GRCh37: 7:42262762-42262762
GRCh38: 7:42223163-42223163
22 GLI3 NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) SNV Pathogenic
578154 rs1562690271 GRCh37: 7:42063113-42063113
GRCh38: 7:42023514-42023514
23 GLI3 NC_000007.13:g.(?_42187805)_(42262872_?)del DEL Pathogenic
1070264 GRCh37: 7:42187805-42262872
GRCh38:
24 GLI3 NM_000168.6(GLI3):c.2090del (p.Ala697fs) DEL Pathogenic
1072899 GRCh37: 7:42011949-42011949
GRCh38: 7:41972350-41972350
25 GLI3 NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) SNV Pathogenic
Uncertain Significance
13831 rs121917716 GRCh37: 7:42007506-42007506
GRCh38: 7:41967908-41967908
26 GLI3 NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) SNV Pathogenic
435334 rs772948115 GRCh37: 7:42005986-42005986
GRCh38: 7:41966388-41966388
27 GLI3 NM_000168.6(GLI3):c.4542_4545del (p.His1515fs) DEL Pathogenic
13832 GRCh37: 7:42004126-42004129
GRCh38: 7:41964528-41964531
28 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) SNV Pathogenic
Pathogenic
13826 rs121917713 GRCh37: 7:42079797-42079797
GRCh38: 7:42040198-42040198
29 GLI3 NM_000168.6(GLI3):c.4283dup (p.Pro1429fs) DUP Pathogenic
1691822 GRCh37: 7:42004387-42004388
GRCh38: 7:41964789-41964790
30 GLI3 NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter) SNV Pathogenic
1120233 GRCh37: 7:42012040-42012040
GRCh38: 7:41972441-41972441
31 GLI3 NM_000168.6(GLI3):c.4395del (p.Ser1466fs) DEL Pathogenic
459213 rs1554304380 GRCh37: 7:42004276-42004276
GRCh38: 7:41964678-41964678
32 GLI3 NM_000168.6(GLI3):c.1878del (p.Lys626fs) DEL Pathogenic
459207 rs1554306093 GRCh37: 7:42012161-42012161
GRCh38: 7:41972562-41972562
33 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) DUP Pathogenic
Pathogenic
376814 rs1057520063 GRCh37: 7:42004239-42004240
GRCh38: 7:41964641-41964642
34 GLI3 NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) SNV Pathogenic
528800 rs116840766 GRCh37: 7:42005347-42005347
GRCh38: 7:41965749-41965749
35 GLI3 NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) SNV Pathogenic
566915 rs1562656759 GRCh37: 7:42004173-42004173
GRCh38: 7:41964575-41964575
36 GLI3 NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer) DEL Pathogenic
651052 rs1583801167 GRCh37: 7:42063130-42063131
GRCh38: 7:42023531-42023532
37 GLI3 NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter) SNV Pathogenic
645072 rs1583505882 GRCh37: 7:42085056-42085056
GRCh38: 7:42045457-42045457
38 GLI3 NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) SNV Pathogenic
664752 rs1583805203 GRCh37: 7:42065944-42065944
GRCh38: 7:42026345-42026345
39 GLI3 NM_000168.6(GLI3):c.885del (p.Ile296fs) DEL Pathogenic
835724 rs1784103136 GRCh37: 7:42079780-42079780
GRCh38: 7:42040181-42040181
40 GLI3 NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs) DUP Pathogenic
844774 rs1787131313 GRCh37: 7:42004883-42004884
GRCh38: 7:41965285-41965286
41 GLI3 NM_000168.6(GLI3):c.3454del (p.Glu1152fs) DEL Pathogenic
850624 rs1787146494 GRCh37: 7:42005217-42005217
GRCh38: 7:41965619-41965619
42 GLI3 NM_000168.6(GLI3):c.3874del (p.Gln1292fs) DEL Pathogenic
852063 rs1787127981 GRCh37: 7:42004797-42004797
GRCh38: 7:41965199-41965199
43 GLI3 NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs) DEL Pathogenic
949814 rs1787098071 GRCh37: 7:42003947-42004355
GRCh38: 7:41964349-41964757
44 GLI3 NM_000168.6(GLI3):c.2720del (p.Ser907fs) DEL Pathogenic
951633 rs1787182897 GRCh37: 7:42005951-42005951
GRCh38: 7:41966353-41966353
45 GLI3 NC_000007.13:g.(?_42116331)_(42188087_?)del DEL Pathogenic
1072387 GRCh37: 7:42116331-42188087
GRCh38:
46 GLI3 NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs) DEL Pathogenic
1075151 GRCh37: 7:42005305-42005306
GRCh38: 7:41965707-41965708
47 GLI3 NM_000168.6(GLI3):c.4172del (p.Gly1391fs) DEL Pathogenic
Pathogenic
1120232 GRCh37: 7:42004499-42004499
GRCh38: 7:41964901-41964901
48 GLI3 NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter) SNV Pathogenic
1381542 GRCh37: 7:42004164-42004164
GRCh38: 7:41964566-41964566
49 GLI3 NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter) SNV Pathogenic
1425074 GRCh37: 7:42004909-42004909
GRCh38: 7:41965311-41965311
50 GLI3 NM_000168.6(GLI3):c.4413del (p.Thr1472fs) DEL Pathogenic
1350813 GRCh37: 7:42004258-42004258
GRCh38: 7:41964660-41964660

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

73
# 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

Copy number variations for Greig Cephalopolysyndactyly Syndrome from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 225147 7 43300000 46600000 Copy number GLI3 Greig cephalo-polysyndactyly syndrome
2 225048 7 41967072 42243321 Deletion 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 GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1 13.59 TAAR1 SUFU SHH PTCH1 KIF7 IQCE
2
Show member pathways
12.3 SHH PTCH1 IHH DHH
3 12.21 SUFU SHH PTCH1 GLI2 GLI1
4
Show member pathways
12.03 SUFU PTCH1 KIF7 IQCE GLI3
5 11.91 SUFU KIF7 GLI3 GLI2
6
Show member pathways
11.87 PTCH1 IHH GLI3
7
Show member pathways
11.78 SUFU SHH PTCH1 KIF7 IQCE IHH
9
Show member pathways
11.54 IHH GLI3 GLI2
10 11.43 SHH GLI3 GLI2 GLI1
11 11.39 SHH GLI3 FGF8
12 11.31 SHH PTCH1 IHH GLI2 GLI1
13 11.31 SUFU SHH PTCH1 GLI3 GLI2 GLI1
14
Show member pathways
11.29 PTCH1 GLI3 GLI2 GLI1
15 11.28 SUFU SHH PTCH1 KIF7 IHH GLI3
16
Show member pathways
11.26 CDON DHH GLI2 GLI3 IHH PTCH1
17 11.21 SHH GLI2 GLI1 FGF8
18 11.1 GLI1 GLI2 PTCH1 SHH
19 10.74 SHH PTCH1 GLI1
20
Show member pathways
10.69 SHH GLI3 FGF8
21 10.49 SHH PTCH1

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 10.03 SUFU PTCH1 KIF7 IQCE GLI3 GLI2
2 ciliary tip GO:0097542 9.85 SUFU KIF7 GLI3 GLI2 GLI1
3 ciliary base GO:0097546 9.65 SUFU GLI3 GLI2 GLI1 CIBAR1
4 GLI-SUFU complex GO:1990788 9.17 SUFU GLI3 GLI2 GLI1

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

(show top 50) (show all 72)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 10.29 DHH GLI1 GLI2 GLI3 IHH
2 heart looping GO:0001947 10.26 FGF8 IHH SHH SUFU
3 lung development GO:0030324 10.24 FGF8 GLI1 GLI2 GLI3 SHH
4 neuron differentiation GO:0030182 10.23 CDON FGF8 GLI2 GLI3 SHH
5 regulation of cell population proliferation GO:0042127 10.22 SHH PTCH1 HOXD13 GLI3
6 branching involved in ureteric bud morphogenesis GO:0001658 10.22 SHH PTCH1 GLI3 FGF8
7 odontogenesis of dentin-containing tooth GO:0042475 10.21 SHH GLI3 GLI2
8 anterior/posterior pattern specification GO:0009952 10.21 SHH HOXD13 GLI3 GLI2 CDON
9 cell fate specification GO:0001708 10.2 SHH IHH DHH CDON
10 metanephros development GO:0001656 10.19 FGF8 GLI3 SHH
11 branching involved in blood vessel morphogenesis GO:0001569 10.19 SHH IHH FGF8
12 liver regeneration GO:0097421 10.19 PTCH1 IHH GLI1
13 protein autoprocessing GO:0016540 10.18 DHH IHH SHH
14 proximal/distal pattern formation GO:0009954 10.17 GLI3 GLI2 GLI1
15 embryonic digit morphogenesis GO:0042733 10.17 GLI2 GLI3 HOXD13 IHH LMBR1 SHH
16 stem cell proliferation GO:0072089 10.16 SHH PTCH1 GLI3 GLI2 FGF8
17 male genitalia development GO:0030539 10.15 FGF8 HOXD13 SHH
18 embryonic digestive tract morphogenesis GO:0048557 10.14 SHH IHH GLI3
19 somite development GO:0061053 10.14 SHH PTCH1 IHH
20 smooth muscle tissue development GO:0048745 10.13 SHH PTCH1 IHH
21 kidney development GO:0001822 10.12 SHH GLI3 GLI2 FGF8
22 self proteolysis GO:0097264 10.12 SHH IHH DHH
23 negative regulation of smoothened signaling pathway GO:0045879 10.11 SUFU PTCH1 KIF7 GLI3 GLI2
24 cell population proliferation GO:0008283 10.1 SHH IHH GLI3 GLI2 FGF8
25 developmental growth GO:0048589 10.1 SHH GLI3 GLI2
26 positive regulation of T cell differentiation in thymus GO:0033089 10.1 SHH IHH GLI2
27 embryonic limb morphogenesis GO:0030326 10.1 SHH PTCH1 HOXD13 GLI3
28 branching morphogenesis of an epithelial tube GO:0048754 10.09 GLI2 GLI3 SHH
29 positive regulation of alpha-beta T cell differentiation GO:0046638 10.09 GLI3 IHH SHH
30 negative regulation of chondrocyte differentiation GO:0032331 10.08 IHH GLI3 GLI2
31 branching involved in salivary gland morphogenesis GO:0060445 10.05 SHH FGF8
32 metanephric collecting duct development GO:0072205 10.05 SHH PTCH1
33 artery development GO:0060840 10.04 SHH GLI3
34 alpha-beta T cell differentiation GO:0046632 10.04 GLI3 SHH
35 embryonic neurocranium morphogenesis GO:0048702 10.04 FGF8 GLI3
36 dorsal/ventral neural tube patterning GO:0021904 10.04 SHH PTCH1 GLI2
37 hindgut morphogenesis GO:0007442 10.04 SHH GLI3 GLI2
38 camera-type eye development GO:0043010 10.03 SHH IHH GLI3
39 chondrocyte differentiation GO:0002062 10.03 IHH GLI3 GLI2
40 positive regulation of skeletal muscle tissue development GO:0048643 10.03 SHH CDON
41 forebrain dorsal/ventral pattern formation GO:0021798 10.03 GLI3 FGF8
42 negative regulation of T cell differentiation in thymus GO:0033085 10.03 IHH SHH
43 spinal cord motor neuron differentiation GO:0021522 10.03 SHH PTCH1 GLI3 GLI2
44 embryonic organ development GO:0048568 10.02 SHH PTCH1 GLI3
45 cerebellar cortex morphogenesis GO:0021696 10.02 GLI2 GLI1
46 ventral midline development GO:0007418 10.02 GLI1 GLI2 SHH
47 prostate gland development GO:0030850 10.02 SHH PTCH1 HOXD13 GLI1
48 cell differentiation involved in kidney development GO:0061005 10.01 PTCH1 GLI3
49 mammary gland development GO:0030879 10.01 PTCH1 GLI3 GLI2
50 smoothened signaling pathway involved in ventral spinal cord interneuron specification GO:0021775 10.01 GLI2 GLI3 SUFU

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

# Name GO ID Score Top Affiliating Genes
1 cholesterol-protein transferase activity GO:0140853 9.43 SHH IHH DHH
2 patched binding GO:0005113 9.23 SHH PTCH1 IHH DHH

Sources for Greig Cephalopolysyndactyly Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....