GCPS
MCID: GRG001
MIFTS: 64

Greig Cephalopolysyndactyly Syndrome (GCPS)

Categories: Bone diseases, Eye 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 25 20 43 58 36 29 13 54 6 44 15
Gcps 57 20 43 58 72
Polysyndactyly with Peculiar Skull Shape 57 20
Polysyndactyly with Peculiars Skull Shape 12
Greig Cephalo-Poly-Syndactyly Syndrome 72
Cephalopolysyndactyly, Greig Syndrome 39
Cephalopolysyndactyly Syndrome 43
Aarskog Syndrome 70
Greig Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
greig cephalopolysyndactyly syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable expressivity

Inheritance:
autosomal dominant


HPO:

31
greig cephalopolysyndactyly syndrome:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


GeneReviews:

25
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 bone diseases
Developmental anomalies during embryogenesis


Summaries for Greig Cephalopolysyndactyly Syndrome

GARD : 20 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 synostosis 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 Hedgehog signaling pathway and Pathways in cancer. The drugs Formaldehyde and Genistein have been mentioned in the context of this disorder. Affiliated tissues include limb, head and face, and related phenotypes are macrocephaly and postaxial hand polydactyly

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.

MedlinePlus Genetics : 43 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) (Updated 05-Apr-2021)

KEGG : 36 The Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital anomaly syndrome. The clinical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern.

UniProtKB/Swiss-Prot : 72 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 : 73 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 99)
# Related Disease Score Top Affiliating Genes
1 synostosis 30.6 SHH LMBR1 GLI3
2 acrocallosal syndrome 30.0 ZNF141 SHH KIF7 IQCE GLI3 GLI1
3 brachydactyly 29.9 SHH PTCH1 IQCE GLI1
4 polydactyly 29.8 ZNF141 SHH PTCH1 LMBR1 KIF7 IQCE
5 chromosome 2q35 duplication syndrome 29.7 ZP2 SHH PTCH1 LMBR1 IQCE GLI3
6 pallister-hall syndrome 29.2 ZNF141 TAAR1 SHH PTCH1 KIF7 GLI3
7 carpenter syndrome 1 11.3
8 hypertelorism 10.7
9 maturity-onset diabetes of the young, type 2 10.3
10 maturity-onset diabetes of the young 10.3
11 holoprosencephaly 1 10.3 SHH GLI2
12 corpus callosum lipoma 10.2 SHH GLI2
13 radial hemimelia 10.2 SHH LMBR1
14 cerebral hemisphere lipoma 10.2 SHH GLI2
15 holoprosencephaly, recurrent infections, and monocytosis 10.2 PTCH1 GLI2
16 white-sutton syndrome 10.2 GLI3 GLI2
17 holoprosencephaly 2 10.2 SHH GLI2
18 calcifying epithelial odontogenic tumor 10.2 PTCH1 GLI2
19 joubert syndrome 13 10.2 KIF7 GLI3
20 culler-jones syndrome 10.2 SHH GLI3 GLI2
21 hemimelia 10.2 GLI3 GLI2 GLI1
22 type 2 diabetes mellitus 10.2
23 gallbladder, agenesis of 10.2
24 polydactyly, preaxial iv 10.2
25 alacrima, achalasia, and mental retardation syndrome 10.2
26 autism spectrum disorder 10.2
27 monocular esotropia 10.2
28 microcephaly 10.2
29 hydrocephalus 10.2
30 ichthyosis 10.2
31 craniosynostosis 10.2
32 hyperglycemia 10.2
33 myopathy 10.2
34 radiculopathy 10.2
35 esotropia 10.2
36 chromosome 7p deletion 10.2
37 monogenic diabetes 10.2
38 esophageal atresia 10.2 SHH GLI3 GLI2
39 holoprosencephaly 3 10.1 SHH LMBR1 GLI2
40 melanotic medulloblastoma 10.1 SHH PTCH1 GLI2
41 midline interhemispheric variant of holoprosencephaly 10.1 SHH PTCH1 GLI2
42 septopreoptic holoprosencephaly 10.1 SHH PTCH1 GLI2
43 holoprosencephaly 9 10.1 SHH PTCH1 GLI2
44 adult medulloblastoma 10.1 SHH PTCH1 GLI2
45 alobar holoprosencephaly 10.1 SHH PTCH1 GLI2
46 lobar holoprosencephaly 10.1 SHH PTCH1 GLI2
47 holoprosencephaly 11 10.1 SHH PTCH1 GLI2
48 holoprosencephaly 5 10.1 SHH PTCH1 GLI2
49 microform holoprosencephaly 10.1 SHH PTCH1 GLI2
50 bone development disease 10.1 SHH LMBR1 GLI3

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH
2 limbs/digits/tail MP:0005371 9.56 GLI1 GLI2 GLI3 IQCE KIF7 LMBR1
3 no phenotypic analysis MP:0003012 9.17 GLI1 GLI2 GLI3 KIF7 PTCH1 SHH

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Formaldehyde Approved, Vet_approved Phase 2, Phase 3 50-00-0 712
2
Genistein Investigational Phase 2, Phase 3 446-72-0 5280961
3 Protective Agents Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Phytoestrogens Phase 2, Phase 3
6 Protein Kinase Inhibitors Phase 2, Phase 3
7 Hormone Antagonists Phase 2, Phase 3
8 Estrogens Phase 2, Phase 3
9 Immunologic Factors Phase 3
10 Adjuvants, Immunologic Phase 3
11 Wobenzym Phase 3
12 Hemagglutinins Phase 2, Phase 3
13 Vaccines Phase 2, Phase 3
14 Viscum album peptide Phase 1, Phase 2
15 European Mistletoe Phase 1, Phase 2
16 Anti-Retroviral Agents Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2
18 Antiviral Agents Phase 1, Phase 2
19 Anti-HIV Agents Phase 1, Phase 2
20 Lemon Balm
21 Antibiotics, Antitubercular
22 Anti-Bacterial Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Effects of a Genistein Concentrated Polysaccharide (GCP) on Patients With a Diagnosis of Prostate Cancer on Active Surveillance. Completed NCT00584532 Phase 2, Phase 3 Placebo;GCP - Genistein Combined Polysaccharide
2 Phlogenzym® in Patients With Acute Thrombophlebitis - Efficacy and Tolerance - Randomised Double-blind Study Phase III With Parallel Groups vs. Placebo According to the Guidelines of Good Clinical Practice (GCP) Completed NCT03470337 Phase 3 Phlogenzym
3 A Phase 2/3 Double Blinded, Randomized, Placebo-Controlled Study in Healthy Adult Volunteers in Vietnam to Examine the Safety and Immunogenicity of a Seasonal Trivalent Inactivated Split Virion Influenza Vaccine (IVACFLU-S) Produced by IVAC Completed NCT03095599 Phase 2, Phase 3
4 Dose-Escalation-Study With abnobaVISCUM® Fraxini 2 (AVF2) as Intravesical Instillation in Patients With Superficial Bladder Cancer According to ICH/GCP (International Conference on Harmonisation/Good Clinical Practice) - Guidelines: a Phase Ib/IIa Study Completed NCT02007005 Phase 1, Phase 2 abnobaVISCUM Fraxini
5 HLA-Haploidentical Hematopoietic Cell Transplantation and Subsequent Donor Natural Killer Cell Infusion in Refractory Acute Leukemia - A Phase 1-2a STUDY Completed NCT01795378 Phase 1, Phase 2
6 Effects of a Genistein Combined Polysaccharide (GCP) on Patients With a Diagnosis of Prostate Cancer on Active Surveillance. Completed NCT00269555 Genistein Combined Polysaccharide (GCP)
7 A Prospective Open Pilot Study With Functional Placebo-control to Evaluate the Efficacy and Tolerability/Safety of a Subretinal Implant in Blind Patients in Accordance With ICH/GCP Guidelines Completed NCT00515814
8 Platelets Count Alterations in Patients With Acute Coronary Syndrome: Epidemiology and Prognostic Role Completed NCT03583411
9 Disruption of Immune Homeostasis in Type 2 Diabetics With Generalized Chronic Periodontitis Completed NCT02172716
10 Neuroimaging Age-related Versus Pain-related Changes in Pain Modulation Recruiting NCT02488863
11 Prospective, Multicentre Evaluation of the Accuracy of CAD4TB and C-reactive Protein Assay as Triage Tests for the Diagnosis of Pulmonary Tuberculosis in Presumptive Adult TB Patients (TB TRIAGE+ Accuracy) Recruiting NCT04666311
12 18F-DCFPyL PET/CT in High-grade Epithelial Ovarian Cancer Recruiting NCT03811899
13 The Effectiveness of Pre-medical Consultation (PMC) Diabetes Self-care Education Programme on Glycemic Control in Adults With Type 2 Diabetes Recruiting NCT04092569
14 Impact of Two Lifestyle Strategies for Improving Diabetes Related Health Outcomes in a Specialty Care Setting: A Randomized Controlled Trial Not yet recruiting NCT02210845

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

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

19
Limb, Head, Face

MalaCards organs/tissues related to Greig Cephalopolysyndactyly Syndrome:

40
Cerebellum, Prostate, Bone, Brain, Heart, Liver, Cortex

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show top 50) (show all 453)
# 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. 61 25 54 57 6
12794692 2003
2
Point mutations in human GLI3 cause Greig syndrome. 57 25 54 6 61
9302279 1997
3
New insights into genotype-phenotype correlation for GLI3 mutations. 57 6 25 61
24736735 2015
4
The Greig cephalopolysyndactyly syndrome. 57 61 6 25
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. 61 57 6 25
15739154 2005
6
Metopic craniosynostosis due to mutations in GLI3: A novel association. 6 57 61
20583172 2010
7
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. 57 25 61 54
14608643 2003
8
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 57 25 54 61
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. 6 61 57
10678662 2000
10
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 61 54 25 6
10441342 1999
11
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. 61 57 6
1879832 1991
12
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 61 25 57
21326280 2011
13
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 61 6 25
20672375 2010
14
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 6 57
18000979 2007
15
Phenotype of five patients with Greig syndrome and microdeletion of 7p13. 25 61 57
11484201 2001
16
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. 25 57 61
6316787 1983
17
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. 6 57
6641002 1983
18
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. 57 54 61
8387379 1993
19
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). 54 61 57
1322743 1992
20
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). 25 57
2729360 1989
21
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families. 6 61
26508445 2016
22
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 6 61
15811011 2005
23
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. 61 57
8985483 1996
24
Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). 61 57
1289066 1992
25
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 57 61
1650914 1991
26
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. 57 61
1981052 1990
27
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. 61 57
3239571 1988
28
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). 57 61
3239570 1988
29
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. 61 57
3901752 1985
30
The Greig cephalopolysyndactyly syndrome in a Canadian family. 57 61
6295159 1982
31
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 25 61
31573334 2019
32
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma. 6
27231705 2016
33
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. 25 61
25606469 2014
34
A de novo GLI3 mutation in a patient with acrocallosal syndrome. 61 25
23633388 2013
35
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. 25 61
22903559 2012
36
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. 57
20503312 2010
37
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). 25 61
23776344 2008
38
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. 61 25
19308487 2007
39
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. 25 61
17098889 2007
40
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. 6
10441570 1999
41
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. 61 25
9520255 1997
42
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? 57
9220202 1997
43
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 57
8723570 1996
44
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13). 57
2545596 1989
45
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? 57
3879437 1985
46
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
47
[Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism]. 57
6306158 1982
48
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. 57
6262085 1981
49
A newborn infant with craniofacial dysmorphism and polysyndactyly (Greig's syndrome). 57
6263040 1981
50
A family with syndactyly type II (synpolydactyly). 57
199388 1977

Variations for Greig Cephalopolysyndactyly Syndrome

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6 (show top 50) (show all 378)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLI3 GLI3, DEL Deletion 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.1873C>T (p.Arg625Trp) SNV Pathogenic 13824 rs121917712 GRCh37: 7:42012166-42012166
GRCh38: 7:41972567-41972567
4 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) SNV Pathogenic 13826 rs121917713 GRCh37: 7:42079797-42079797
GRCh38: 7:42040198-42040198
5 GLI3 NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter) SNV Pathogenic 13830 rs121917715 GRCh37: 7:42063078-42063078
GRCh38: 7:42023479-42023479
6 GLI3 NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) SNV Pathogenic 13831 rs121917716 GRCh37: 7:42007506-42007506
GRCh38: 7:41967908-41967908
7 GLI3 GLI3, 4-BP DEL, 4542CCAC Deletion Pathogenic 13832 GRCh37:
GRCh38:
8 GLI3 NM_000168.6(GLI3):c.1018del (p.Ser340fs) Deletion Pathogenic 13833 rs1583500982 GRCh37: 7:42079647-42079647
GRCh38: 7:42040048-42040048
9 GLI3 NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter) SNV Pathogenic 435334 rs772948115 GRCh37: 7:42005986-42005986
GRCh38: 7:41966388-41966388
10 GLI3 NM_000168.6(GLI3):c.4395del (p.Ser1466fs) Deletion Pathogenic 459213 rs1554304380 GRCh37: 7:42004276-42004276
GRCh38: 7:41964678-41964678
11 GLI3 NM_000168.6(GLI3):c.1878del (p.Lys626fs) Deletion Pathogenic 459207 rs1554306093 GRCh37: 7:42012161-42012161
GRCh38: 7:41972562-41972562
12 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) SNV Pathogenic 13826 rs121917713 GRCh37: 7:42079797-42079797
GRCh38: 7:42040198-42040198
13 GLI3 NM_000168.6(GLI3):c.750del (p.Tyr251fs) Deletion Pathogenic 523635 rs1554317931 GRCh37: 7:42085059-42085059
GRCh38: 7:42045460-42045460
14 GLI3 NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter) SNV Pathogenic 528800 rs116840766 GRCh37: 7:42005347-42005347
GRCh38: 7:41965749-41965749
15 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) Duplication Pathogenic 376814 rs1057520063 GRCh37: 7:42004239-42004240
GRCh38: 7:41964641-41964642
16 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter) Duplication Pathogenic 376814 rs1057520063 GRCh37: 7:42004239-42004240
GRCh38: 7:41964641-41964642
17 GLI3 NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter) SNV Pathogenic 566915 rs1562656759 GRCh37: 7:42004173-42004173
GRCh38: 7:41964575-41964575
18 GLI3 NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs) Indel Pathogenic 577666 rs1562657560 GRCh37: 7:42004759-42004767
GRCh38: 7:41965161-41965169
19 GLI3 NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter) SNV Pathogenic 578154 rs1562690271 GRCh37: 7:42063113-42063113
GRCh38: 7:42023514-42023514
20 GLI3 NM_000168.6(GLI3):c.1778del (p.Arg593fs) Deletion Pathogenic 642780 rs1583747773 GRCh37: 7:42017191-42017191
GRCh38: 7:41977592-41977592
21 GLI3 NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter) SNV Pathogenic 645072 rs1583505882 GRCh37: 7:42085056-42085056
GRCh38: 7:42045457-42045457
22 GLI3 NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer) Deletion Pathogenic 651052 rs1583801167 GRCh37: 7:42063130-42063131
GRCh38: 7:42023531-42023532
23 GLI3 NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter) SNV Pathogenic 38326 rs116840770 GRCh37: 7:42005190-42005190
GRCh38: 7:41965592-41965592
24 GLI3 NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter) SNV Pathogenic 664752 rs1583805203 GRCh37: 7:42065944-42065944
GRCh38: 7:42026345-42026345
25 GLI3 NM_000168.6(GLI3):c.4202del (p.Ser1401fs) Deletion Pathogenic 694705 rs1583728165 GRCh37: 7:42004469-42004469
GRCh38: 7:41964871-41964871
26 overlap with 2 genes GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1 copy number loss Pathogenic 813836 GRCh37: 7:41397582-42870176
GRCh38:
27 GLI3 NM_000168.6(GLI3):c.885del (p.Ile296fs) Deletion Pathogenic 835724 GRCh37: 7:42079780-42079780
GRCh38: 7:42040181-42040181
28 GLI3 NM_000168.6(GLI3):c.3454del (p.Glu1152fs) Deletion Pathogenic 850624 GRCh37: 7:42005217-42005217
GRCh38: 7:41965619-41965619
29 GLI3 NM_000168.6(GLI3):c.3874del (p.Gln1292fs) Deletion Pathogenic 852063 GRCh37: 7:42004797-42004797
GRCh38: 7:41965199-41965199
30 GLI3 NM_000168.6(GLI3):c.877_881del (p.Thr293fs) Deletion Pathogenic 857479 GRCh37: 7:42079784-42079788
GRCh38: 7:42040185-42040189
31 GLI3 NM_000168.6(GLI3):c.91G>T (p.Glu31Ter) SNV Pathogenic 864278 GRCh37: 7:42262762-42262762
GRCh38: 7:42223163-42223163
32 GLI3 NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs) Duplication Pathogenic 844774 GRCh37: 7:42004883-42004884
GRCh38: 7:41965285-41965286
33 GLI3 NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs) Deletion Pathogenic 949814 GRCh37: 7:42003947-42004355
GRCh38: 7:41964349-41964757
34 GLI3 NM_000168.6(GLI3):c.2720del (p.Ser907fs) Deletion Pathogenic 951633 GRCh37: 7:42005951-42005951
GRCh38: 7:41966353-41966353
35 GLI3 NM_000168.6(GLI3):c.4430_4439del (p.Ser1477fs) Deletion Pathogenic 972686 GRCh37: 7:42004232-42004241
GRCh38: 7:41964634-41964643
36 GLI3 NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu) SNV Pathogenic 977930 GRCh37: 7:42012177-42012177
GRCh38: 7:41972578-41972578
37 GLI3 NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) SNV Pathogenic 13828 rs121917714 GRCh37: 7:42007251-42007251
GRCh38: 7:41967653-41967653
38 GLI3 NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter) SNV Pathogenic 13828 rs121917714 GRCh37: 7:42007251-42007251
GRCh38: 7:41967653-41967653
39 GLI3 NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln) SNV Pathogenic 528805 rs1554306094 GRCh37: 7:42012165-42012165
GRCh38: 7:41972566-41972566
40 GLI3 NM_000168.6(GLI3):c.1497+1G>A SNV Pathogenic 839677 GRCh37: 7:42063066-42063066
GRCh38: 7:42023467-42023467
41 GLI3 NM_000168.6(GLI3):c.1622C>T (p.Thr541Met) SNV Likely pathogenic 627565 rs1562667078 GRCh37: 7:42018223-42018223
GRCh38: 7:41978624-41978624
42 GLI3 NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu) SNV Likely pathogenic 802305 rs1583728402 GRCh37: 7:42004595-42004595
GRCh38: 7:41964997-41964997
43 GLI3 NM_000168.6(GLI3):c.1028+1G>A SNV Likely pathogenic 528802 rs1375768446 GRCh37: 7:42079636-42079636
GRCh38: 7:42040037-42040037
44 GLI3 NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 528803 rs886320788 GRCh37: 7:42063090-42063090
GRCh38: 7:42023491-42023491
45 GLI3 NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe) SNV Uncertain significance 528801 rs746534141 GRCh37: 7:42005592-42005592
GRCh38: 7:41965994-41965994
46 GLI3 NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr) SNV Uncertain significance 459211 rs770430876 GRCh37: 7:42005556-42005556
GRCh38: 7:41965958-41965958
47 GLI3 NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) SNV Uncertain significance 517140 rs912576738 GRCh37: 7:42064876-42064876
GRCh38: 7:42025277-42025277
48 GLI3 NM_000168.6(GLI3):c.1242+6del Deletion Uncertain significance 528810 rs772496012 GRCh37: 7:42065792-42065792
GRCh38: 7:42026193-42026193
49 GLI3 NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg) SNV Uncertain significance 571948 rs747875277 GRCh37: 7:42005549-42005549
GRCh38: 7:41965951-41965951
50 GLI3 NM_000168.6(GLI3):c.847A>T (p.Arg283Trp) SNV Uncertain significance 528806 rs746870989 GRCh37: 7:42079818-42079818
GRCh38: 7:42040219-42040219

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

72
# 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:

7
# CNVD ID Chromosome 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:

36
# 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 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
2 cilium GO:0005929 9.43 PTCH1 KIF7 IQCE GLI3 GLI2 GLI1
3 ciliary base GO:0097546 9.33 GLI3 GLI2 GLI1
4 ciliary tip GO:0097542 8.92 KIF7 GLI3 GLI2 GLI1

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

(show top 50) (show all 60)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.12 ZNF141 SHH PTCH1 GLI3 GLI2
2 positive regulation of transcription, DNA-templated GO:0045893 10.1 SHH PTCH1 GLI3 GLI2 GLI1
3 kidney development GO:0001822 9.89 SHH GLI3 GLI2
4 anterior/posterior pattern specification GO:0009952 9.87 SHH GLI3 GLI2
5 lung development GO:0030324 9.86 SHH GLI3 GLI2 GLI1
6 anatomical structure development GO:0048856 9.85 SHH GLI3 GLI2
7 odontogenesis of dentin-containing tooth GO:0042475 9.84 SHH GLI3 GLI2
8 embryonic limb morphogenesis GO:0030326 9.83 SHH PTCH1 GLI3
9 embryonic organ development GO:0048568 9.83 SHH PTCH1 GLI3
10 pattern specification process GO:0007389 9.83 SHH PTCH1 GLI3 GLI2
11 branching involved in ureteric bud morphogenesis GO:0001658 9.82 SHH PTCH1 GLI3
12 embryonic digit morphogenesis GO:0042733 9.81 SHH LMBR1 GLI3 GLI2
13 positive regulation of smoothened signaling pathway GO:0045880 9.79 SHH KIF7 GLI1
14 liver regeneration GO:0097421 9.78 PTCH1 GLI3 GLI1
15 mammary gland development GO:0030879 9.77 PTCH1 GLI3 GLI2
16 branching morphogenesis of an epithelial tube GO:0048754 9.76 SHH GLI3 GLI2
17 developmental growth GO:0048589 9.75 SHH GLI3 GLI2
18 proximal/distal pattern formation GO:0009954 9.74 GLI3 GLI2 GLI1
19 positive regulation of DNA replication GO:0045740 9.73 GLI2 GLI1
20 pituitary gland development GO:0021983 9.73 GLI2 GLI1
21 negative regulation of smoothened signaling pathway GO:0045879 9.73 PTCH1 KIF7 GLI3 GLI2
22 neuron fate commitment GO:0048663 9.72 SHH GLI3
23 hair follicle morphogenesis GO:0031069 9.72 SHH GLI2
24 canonical glycolysis GO:0061621 9.72 PGAM2 GCK
25 regulation of smoothened signaling pathway GO:0008589 9.72 PTCH1 GLI1
26 anatomical structure formation involved in morphogenesis GO:0048646 9.72 SHH GLI3 GLI2
27 positive regulation of neuroblast proliferation GO:0002052 9.71 SHH GLI3
28 embryonic morphogenesis GO:0048598 9.71 SHH GLI3
29 hindbrain development GO:0030902 9.71 SHH GLI2
30 osteoblast development GO:0002076 9.71 SHH GLI2
31 dorsal/ventral neural tube patterning GO:0021904 9.71 SHH PTCH1 GLI2
32 somite development GO:0061053 9.7 SHH PTCH1
33 embryonic digestive tract development GO:0048566 9.7 GLI3 GLI2
34 embryonic digestive tract morphogenesis GO:0048557 9.7 SHH GLI3
35 digestive tract morphogenesis GO:0048546 9.69 SHH GLI1
36 smooth muscle tissue development GO:0048745 9.69 SHH PTCH1
37 negative thymic T cell selection GO:0045060 9.68 SHH GLI3
38 metanephric collecting duct development GO:0072205 9.68 SHH PTCH1
39 positive regulation of alpha-beta T cell differentiation GO:0046638 9.68 SHH GLI3
40 positive regulation of T cell differentiation in thymus GO:0033089 9.68 SHH GLI2
41 artery development GO:0060840 9.67 SHH GLI3
42 mammary gland duct morphogenesis GO:0060603 9.67 PTCH1 GLI2
43 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.67 PTCH1 GLI3 GLI2
44 limb morphogenesis GO:0035108 9.67 ZNF141 PTCH1 IQCE GLI3
45 cerebellar cortex morphogenesis GO:0021696 9.65 GLI2 GLI1
46 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.65 SHH GLI2 GLI1
47 regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:1901620 9.64 GLI3 GLI2
48 cell differentiation involved in kidney development GO:0061005 9.64 PTCH1 GLI3
49 negative regulation of alpha-beta T cell differentiation GO:0046639 9.63 SHH GLI3
50 tube development GO:0035295 9.63 GLI3 GLI2

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 SHH PTCH1

Sources for Greig Cephalopolysyndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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