GCPS
MCID: GRG001
MIFTS: 66

Greig Cephalopolysyndactyly Syndrome (GCPS)

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

Aliases & Classifications for Greig Cephalopolysyndactyly Syndrome

MalaCards integrated aliases for Greig Cephalopolysyndactyly Syndrome:

Name: Greig Cephalopolysyndactyly Syndrome 56 12 24 52 25 58 36 29 13 54 6 43 15
Gcps 56 52 25 58 73
Polysyndactyly with Peculiar Skull Shape 56 52
Polysyndactyly with Peculiars Skull Shape 12
Greig Cephalo-Poly-Syndactyly Syndrome 73
Cephalopolysyndactyly, Greig Syndrome 39
Cephalopolysyndactyly Syndrome 25
Aarskog Syndrome 71
Greig Syndrome 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Miscellaneous:
variable expressivity

Inheritance:
autosomal dominant


HPO:

31
greig cephalopolysyndactyly syndrome:
Inheritance autosomal dominant inheritance
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 bone diseases
Developmental anomalies during embryogenesis


Summaries for Greig Cephalopolysyndactyly Syndrome

NIH Rare Diseases : 52 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 chromosome 2q35 duplication 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 Rifampicin and Ethambutol 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.

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 : 56 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)

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 : 73 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 : 74 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 120)
# Related Disease Score Top Affiliating Genes
1 synostosis 30.5 SHH LMBR1 IHH GLI3
2 chromosome 2q35 duplication syndrome 30.1 ZP2 SHH PTCH1 LMBR1 IQCE IHH
3 acrocallosal syndrome 30.0 ZNF141 SHH KIF7 IHH GLI3 CIBAR1
4 pallister-hall syndrome 29.8 ZNF141 TAAR1 SHH PTCH1 KIF7 GLI3
5 brachydactyly 29.7 SHH PTCH1 IQCE IHH GLI1 FGD1
6 polydactyly 29.7 ZNF141 SHH PTCH1 LMBR1 KIF7 IQCE
7 carpenter syndrome 1 11.9
8 hypertelorism 10.8
9 maturity-onset diabetes of the young, type 2 10.4
10 maturity-onset diabetes of the young 10.4
11 holoprosencephaly, recurrent infections, and monocytosis 10.4 PTCH1 GLI2
12 calcifying epithelial odontogenic tumor 10.4 PTCH1 GLI2
13 radial hemimelia 10.4 SHH LMBR1
14 hemimelia 10.4 GLI3 GLI2 GLI1
15 white-sutton syndrome 10.3 GLI3 GLI2
16 syndactyly, type iv 10.3 SHH LMBR1
17 esophageal atresia 10.3 SHH GLI3 GLI2
18 melanotic medulloblastoma 10.3 SHH PTCH1 GLI2
19 diabetes mellitus, noninsulin-dependent 10.3
20 polydactyly, preaxial iv 10.3
21 alacrima, achalasia, and mental retardation syndrome 10.3
22 autism spectrum disorder 10.3
23 monocular esotropia 10.3
24 microcephaly 10.3
25 hydrocephalus 10.3
26 ichthyosis 10.3
27 craniosynostosis 10.3
28 hyperglycemia 10.3
29 myopathy 10.3
30 radiculopathy 10.3
31 esotropia 10.3
32 chromosome 7p deletion 10.3
33 monogenic diabetes 10.3
34 adult medulloblastoma 10.3 SHH PTCH1 GLI2
35 corpus callosum lipoma 10.3 SHH GLI2
36 cerebral hemisphere lipoma 10.3 SHH GLI2
37 holoprosencephaly 3 10.2 SHH LMBR1 GLI2
38 cerebellum cancer 10.2 SHH PTCH1 GLI1
39 cerebellar medulloblastoma 10.2 SHH PTCH1 GLI1
40 skin tag 10.2 PTCH1 IQCE GLI3
41 keratocystic odontogenic tumor 10.2 SHH PTCH1 GLI1
42 focal dermal hypoplasia 10.2 SHH PTCH1 GLI1
43 polydactyly, preaxial ii 10.2 SHH PTCH1 LMBR1
44 skin benign neoplasm 10.2 PTCH1 GLI2 GLI1
45 anus, imperforate 10.2 SHH GLI3 GLI2 GLI1
46 townes-brocks syndrome 10.2 ZP2 SHH GLI3
47 skeletal muscle cancer 10.2 SHH PTCH1 GLI1
48 congenital nervous system abnormality 10.2 SHH PTCH1 GLI2
49 nodular medulloblastoma 10.1 SHH PTCH1 GLI2 GLI1
50 acheiropody 10.1 ZP2 SHH LMBR1

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 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
5 wide nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000431
6 broad hallux phalanx 58 31 frequent (33%) Occasional (29-5%) HP:0010059
7 broad thumb 58 31 frequent (33%) Occasional (29-5%) HP:0011304
8 frontal bossing 58 31 very rare (1%) Frequent (79-30%) HP:0002007
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 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
16 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
17 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
18 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
19 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
20 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
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:

56
Genitourinary External Genitalia Male:
inguinal hernia

Head And Neck Head:
macrocephaly
trigonocephaly
scaphocephaly

Head And Neck Face:
frontal bossing
high forehead

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

Abdomen External Features:
umbilical hernia

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

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

MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 CDON FGD1 GCK GLI1 GLI2 GLI3
2 craniofacial MP:0005382 10.11 CDON FGD1 GLI1 GLI2 GLI3 IHH
3 embryo MP:0005380 10.1 CDON FGD1 GLI1 GLI2 GLI3 IHH
4 digestive/alimentary MP:0005381 10.03 CDON GLI1 GLI2 GLI3 IHH KIF7
5 limbs/digits/tail MP:0005371 10.02 CDON CIBAR1 GLI1 GLI2 GLI3 IHH
6 no phenotypic analysis MP:0003012 9.86 GLI1 GLI2 GLI3 IHH KIF7 PTCH1
7 respiratory system MP:0005388 9.76 CDON GLI1 GLI2 GLI3 IHH KIF7
8 skeleton MP:0005390 9.65 CDON CIBAR1 GLI2 GLI3 IHH IQCE
9 vision/eye MP:0005391 9.28 CDON FGD1 GLI2 GLI3 IHH IQCE

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
2
Ethambutol Approved Phase 4 74-55-5 3279 14052
3
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
4
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
5
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
6 Antitubercular Agents Phase 4
7 Lipid Regulating Agents Phase 4
8 Hypolipidemic Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Anti-Infective Agents Phase 4
11 Anti-HIV Agents Phase 4
12 Reverse Transcriptase Inhibitors Phase 4
13 Antiviral Agents Phase 4
14 Anti-Retroviral Agents Phase 4
15
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
16
Ribavirin Approved Phase 2, Phase 3 36791-04-5 37542
17 Antimetabolites Phase 2, Phase 3
18
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
19
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
20 Immunologic Factors Phase 2
21 Protective Agents Phase 2
22 Viscosupplements Phase 2
23 Adjuvants, Immunologic Phase 2
24 Analgesics, Non-Narcotic Phase 2
25 Analgesics Phase 2
26 Antirheumatic Agents Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Anti-Inflammatory Agents, Non-Steroidal Phase 2
29 Liver Extracts Phase 2
30
Apremilast Approved, Investigational Phase 1 608141-41-9 11561674
31
Lenalidomide Approved Phase 1 191732-72-6 216326
32
Ranibizumab Approved Phase 1 347396-82-1 459903
33
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
34 Anti-Bacterial Agents Phase 1
35 Angiogenesis Inhibitors Phase 1
36 Immunosuppressive Agents Phase 1
37 Hormones Phase 1
38 triamcinolone acetonide Phase 1
39 Hormone Antagonists Phase 1
40 Triamcinolone diacetate Phase 1
41 glucocorticoids Phase 1
42 Triamcinolone hexacetonide Phase 1
43
Hydrocortisone Approved, Vet_approved 50-23-7 5754
44
Hydrocortisone acetate Approved, Vet_approved 50-03-3
45
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
46
Acetylcholine Approved, Investigational 51-84-3 187
47
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
48 Trace Elements
49 Micronutrients
50 Vitamins

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Pharmacokinetics of Antituberculosis Drugs and Tuberculosis Treatment Outcomes in HIV-tuberculosis Co-infected Ugandan Adults Unknown status NCT01782950 Phase 4 Rifampicin, Isoniazid, Ethambutol, Pyrazinamide
2 Immediate Versus Deferred Antiretroviral Therapy in HIV-infected Patients Presenting With Acute AIDS-defining Events (IDEAL-Study) Completed NCT01417949 Phase 4
3 Efficacy and Safety of Tenofovir Alafenamide in Chronic Hepatitis B Patients With Suboptimal Response Following Nucleos(t)Ide Therapy Recruiting NCT04201808 Phase 4 Tenofovir Alafenamide 25 MG
4 Randomized, Open-Label, Study to Evaluate the Safety and Efficacy of Sofosbuvir Tablet Plus Ribavirin Tablet (Part A) Versus Single Dose (2 Tablets) of EHCV Containing Sofosbuvir, Ribavirin, and Natural Anti-hemolytic (B) in Egyptian Adults With Chronic Genotype 4 HCV Infection Completed NCT02483156 Phase 2, Phase 3 Two tablets of EHCV in Single Dose each tablet containing SOF 200 mg, RBV 500 mg and Natural anti-hemolytic (AH) at 200 mg;Sofosbuvir tablet (SOF) 400 mg - once daily;Ribavirin (RBV) 1000 mg - splitted on 2 doses daily - 600 mg on morning and 400 mg on evening
5 A Phase 3 Randomized, Open-Label, Study to Evaluate the Safety and Efficacy of the Combined Single Dose of Dactavira Plus (EPGCG, Sofosbuvir , Daclatasvir & Ribavirin) Versus Sofosbuvir + Daclatasvir + Ribavirin (Part A) and a Single Dose of Dactavira (EPGCG, Sofosbuvir & Daclatasvir) Versus Sofosbuvir + Daclatasvir (Part B) in Egyptian Adults With Chronic Genotype 4 HCV Infection Completed NCT03186313 Phase 3 Dactavira Plus;Sofosbuvir + Daclatasvir + Ribavirin;Dactavira;Sofosbuvir + Daclatasvir
6 A Phase 3, Multicenter, Open-label, Randomized Study to Evaluate the Efficacy and Safety of Fedratinib Compared to Best Available Therapy (BAT) in Subjects With DIPSS (Dynamic International Prognostic Scoring System)-Intermediate or High-risk Primary Myelofibrosis (PMF), Post-polycythemia Vera Myelofibrosis (Post-PV MF), or Post-essential Thrombocythemia Myelofibrosis (Post-ET MF) and Previously Treated With Ruxolitinib Recruiting NCT03952039 Phase 3 FEDRATINIB;Best Available Therapy (BAT)
7 A Phase 2, Open-Label, Multicenter Study to Explore the Efficacy and Safety of MONGERSON (GED-0301) in Subjects With Active Ulcerative Colitis. Completed NCT02601300 Phase 2 GED-0301
8 Management of Acute Ankle Sprain With Sodium Hyaluronate (AdantTM) Periarticular Injections Completed NCT02091674 Phase 2
9 Pirfenidone in Combination With Standard of Care Treatment in Patients With Advanced Liver Fibrosis. Multicenter, Open Trial Focused on Safety, Fibrosis Efficacy Evaluation, and Pharmacokinetic Data. Recruiting NCT04099407 Phase 2 Pirfenidone
10 A Phase 1, Open-Label, Randomized Three-Period, Six-Sequence Crossover Study In Healthy Adult Subjects To Evaluate The Bioavailablity Of An Oral Suspension Formulation Relative To The Tablet Formulation Of Apremilast And To Assess The Effect Of Food On The Pharmacokinetics Of The Oral Suspension Formulation Completed NCT02641353 Phase 1 Apremilast;Apremilast Oral Suspension
11 A Phase 1, Open-label, Randomized, Three-period, Two-way Crossover Study in Healthy Subjects to Evaluate the Bioavailability of a Test Lenalidomide Oral Suspension Relative to the Reference Capsule Formulation and to Assess the Effect of Food on the Bioavailability of Lenalidomide From the Oral Suspension Completed NCT02521714 Phase 1 Lenalidomide
12 CAPTAIN: Choroidal Neovascularization Assessment by Pattern Electroretinography After Ranibizumab in Naive Age-related Macular Degeneration Patients Completed NCT00500344 Phase 1 Lucentis (ranibizumab)
13 Acute Pseudophakic Cystoid Macular Edema Treatment Trial: Intravitreal Ranibizumab Versus Triamcinolone Acetonide Completed NCT02294656 Phase 1 Ranibizumab,;Triamcinolone acetonide
14 MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA Unknown status NCT02517944
15 Association Between Consumption of Different Dosages of Bioactive Wheat Peptides and Blood Pressure (BP) Level and Other Biomarkers of Cardiovascular Disease Risk in Healthy Subjects With High-normal BP: a Double-blind, Cross-over, RCT Unknown status NCT02197910
16 The Role of Oxidative Stress and Opiorphin in Temporomandibular Disorders Unknown status NCT03029494 Placebo Oral Tablet
17 Improving Outcomes in HIV Patients Using Mobile Phone Based Interactive Software Support Unknown status NCT02953080
18 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
19 Which One is Effective in Treatment of Bruxism? Occlusal Splints or Botulinum Toxin Completed NCT03891121 Botulinum toxin type A
20 Study of the Function of Immune System in Patients Undergoing Allogeneic Stem Cell Transplantation Completed NCT03233659
21 Predicting Fetal Outcome Using Third Trimester Modified Biophysical Profile Scan Compared to Standard of Care; an Open Label Randomized Controlled Trial at St. Francis Hospital Nsambya. Completed NCT03729089
22 Clinical Efficacy of Acupuncture in the Treatment of Temporomandibular Disorders(TMD) Recruiting NCT04210921
23 Neuroimaging Age-related Versus Pain-related Changes in Pain Modulation Recruiting NCT02488863
24 Addressing Vaccine Hesitancy: Pan-Canadian Validation of an Effective Strategy Recruiting NCT02984007

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
Eye, Skin, Cerebellum, Bone, Liver, Brain, Testes

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show top 50) (show all 429)
# 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. 6 56 54 24 61
12794692 2003
2
Point mutations in human GLI3 cause Greig syndrome. 54 61 24 56 6
9302279 1997
3
The Greig cephalopolysyndactyly syndrome. 61 56 24 6
18435847 2008
4
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. 24 6 56 61
15739154 2005
5
Metopic craniosynostosis due to mutations in GLI3: A novel association. 6 56 61
20583172 2010
6
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. 24 54 56 61
14608643 2003
7
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 61 56 54 24
12414818 2002
8
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 56 61
10678662 2000
9
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 61 54 6 24
10441342 1999
10
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. 61 56 6
1879832 1991
11
New insights into genotype-phenotype correlation for GLI3 mutations. 61 56 24
24736735 2015
12
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 61 24 56
21326280 2011
13
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 6 56
18000979 2007
14
Phenotype of five patients with Greig syndrome and microdeletion of 7p13. 24 61 56
11484201 2001
15
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. 56 24 61
6316787 1983
16
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. 56 6
6641002 1983
17
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. 61 54 56
8387379 1993
18
Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). 56 61 54
1322743 1992
19
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). 56 24
2729360 1989
20
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 61 6
15811011 2005
21
Greig Cephalopolysyndactyly Syndrome 61 6
20301619 2001
22
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. 56 61
8985483 1996
23
Expression of the zinc finger gene Gli3 is affected in the morphogenetic mouse mutant extra-toes (Xt). 61 56
1289066 1992
24
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. 61 56
1650914 1991
25
Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. 56 61
1981052 1990
26
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). 56 61
3239570 1988
27
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. 61 56
3239571 1988
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. 56 61
3901752 1985
29
The Greig cephalopolysyndactyly syndrome in a Canadian family. 56 61
6295159 1982
30
Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome. 24 61
31573334 2019
31
A novel GLI3c.750delC truncation mutation in a multiplex Greig cephalopolysyndactyly syndrome family with an unusual phenotypic combination in a patient. 61 24
25606469 2014
32
A de novo GLI3 mutation in a patient with acrocallosal syndrome. 24 61
23633388 2013
33
Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. 24 61
22903559 2012
34
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. 61 24
20672375 2010
35
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. 56
20503312 2010
36
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). 61 24
23776344 2008
37
The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. 24 61
19308487 2007
38
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. 61 24
17098889 2007
39
Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality. 61 24
9520255 1997
40
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? 56
9220202 1997
41
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 56
8723570 1996
42
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13). 56
2545596 1989
43
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. 56
4043965 1985
44
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? 56
3879437 1985
45
[Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism]. 56
6306158 1982
46
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. 56
6262085 1981
47
A newborn infant with craniofacial dysmorphism and polysyndactyly (Greig's syndrome). 56
6263040 1981
48
A family with syndactyly type II (synpolydactyly). 56
199388 1977
49
Familial polysyndactyly and craniofacial anomalies. 56
4340995 1972
50
Frontodigital syndrome: a dominantly inherited disorder with normal intelligence. 56
4317883 1970

Variations for Greig Cephalopolysyndactyly Syndrome

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6 (show top 50) (show all 343) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLI3 NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)SNV Pathogenic 435334 rs772948115 7:42005986-42005986 7:41966388-41966388
2 GLI3 NM_000168.6(GLI3):c.1878del (p.Lys626fs)deletion Pathogenic 459207 rs1554306093 7:42012161-42012161 7:41972562-41972562
3 GLI3 NM_000168.6(GLI3):c.4395del (p.Ser1466fs)deletion Pathogenic 459213 rs1554304380 7:42004276-42004276 7:41964678-41964678
4 GLI3 NM_000168.6(GLI3):c.750del (p.Tyr251fs)deletion Pathogenic 523635 rs1554317931 7:42085059-42085059 7:42045460-42045460
5 GLI3 NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)SNV Pathogenic 528805 rs1554306094 7:42012165-42012165 7:41972566-41972566
6 GLI3 NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)SNV Pathogenic 528800 rs116840766 7:42005347-42005347 7:41965749-41965749
7 GLI3 NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)SNV Pathogenic 566915 rs1562656759 7:42004173-42004173 7:41964575-41964575
8 GLI3 NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)indel Pathogenic 577666 rs1562657560 7:42004759-42004767 7:41965161-41965169
9 GLI3 NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)SNV Pathogenic 578154 rs1562690271 7:42063113-42063113 7:42023514-42023514
10 GLI3 NM_000168.6(GLI3):c.1778del (p.Arg593fs)deletion Pathogenic 642780 7:42017191-42017191 7:41977592-41977592
11 GLI3 NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)deletion Pathogenic 651052 7:42063130-42063131 7:42023531-42023532
12 GLI3 NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)SNV Pathogenic 664752 7:42065944-42065944 7:42026345-42026345
13 GLI3 NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)SNV Pathogenic 645072 7:42085056-42085056 7:42045457-42045457
14 GLI3 NM_000168.6(GLI3):c.4202del (p.Ser1401fs)deletion Pathogenic 694705 7:42004469-42004469 7:41964871-41964871
15 FGD1 NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)SNV Pathogenic 694686 X:54491930-54491930 X:54465497-54465497
16 FGD1 NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)deletion Pathogenic 694679 X:54495266-54495268 X:54468833-54468835
17 FGD1 NM_004463.3(FGD1):c.1843-1G>ASNV Pathogenic 804011 X:54482218-54482218 X:54455785-54455785
18 FGD1 NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)SNV Pathogenic 804012 X:54492174-54492174 X:54465741-54465741
19 GLI3 , INHBA GRCh37/hg19 7p14.1(chr7:41430185-42807426)x1copy number loss Pathogenic 813836 7:41397582-42870176
20 GLI3 NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs)duplication Pathogenic 844774 7:42004883-42004884 7:41965285-41965286
21 GLI3 NM_000168.6(GLI3):c.3454del (p.Glu1152fs)deletion Pathogenic 850624 7:42005217-42005217 7:41965619-41965619
22 GLI3 NM_000168.6(GLI3):c.885del (p.Ile296fs)deletion Pathogenic 835724 7:42079780-42079780 7:42040181-42040181
23 GLI3 NM_000168.6(GLI3):c.877_881del (p.Thr293fs)deletion Pathogenic 857479 7:42079784-42079788 7:42040185-42040189
24 GLI3 NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)SNV Pathogenic 864278 7:42262762-42262762 7:42223163-42223163
25 GLI3 NM_000168.6(GLI3):c.1497+1G>ASNV Pathogenic 839677 7:42063066-42063066 7:42023467-42023467
26 FGD1 NM_004463.3(FGD1):c.679del (p.Ser227fs)deletion Pathogenic 869445 X:54496871-54496871 X:54470438-54470438
27 GLI3 NM_000168.6(GLI3):c.3874del (p.Gln1292fs)deletion Pathogenic 852063 7:42004797-42004797 7:41965199-41965199
28 FGD1 NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)SNV Pathogenic 29974 rs387906718 X:54481930-54481930 X:54455497-54455497
29 FGD1 FGD1, 1-BP INS, 2122Ginsertion Pathogenic 10824
30 FGD1 NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)SNV Pathogenic 10825 rs28935497 X:54482666-54482666 X:54456233-54456233
31 FGD1 NM_004463.3(FGD1):c.1565G>A (p.Arg522His)SNV Pathogenic 10826 rs137853264 X:54491955-54491955 X:54465522-54465522
32 FGD1 FGD1, EX9-12DELdeletion Pathogenic 10827
33 FGD1 NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)SNV Pathogenic 10830 rs137853265 X:54494334-54494334 X:54467901-54467901
34 FGD1 FGD1, 1-BP DEL, 2189Adeletion Pathogenic 10831
35 FGD1 NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)SNV Pathogenic 10832 rs137853266 X:54494229-54494229 X:54467796-54467796
36 FGD1 NM_004463.3(FGD1):c.944dup (p.Ala316fs)duplication Pathogenic 10833 rs1569541255 X:54496605-54496606 X:54470172-54470173
37 FGD1 NM_004463.3(FGD1):c.1396A>G (p.Met466Val)SNV Pathogenic 10834 rs137853267 X:54492230-54492230 X:54465797-54465797
38 GLI3 GLI3, DELdeletion Pathogenic 13813
39 GLI3 NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter)SNV Pathogenic 13822 rs121917711 7:42018218-42018218 7:41978619-41978619
40 GLI3 NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)SNV Pathogenic 13824 rs121917712 7:42012166-42012166 7:41972567-41972567
41 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)SNV Pathogenic 13826 rs121917713 7:42079797-42079797 7:42040198-42040198
42 GLI3 NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)SNV Pathogenic 13828 rs121917714 7:42007251-42007251 7:41967653-41967653
43 GLI3 NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter)SNV Pathogenic 13830 rs121917715 7:42063078-42063078 7:42023479-42023479
44 GLI3 GLI3, 4-BP DEL, 4542CCACdeletion Pathogenic 13832
45 GLI3 NM_000168.6(GLI3):c.1018del (p.Ser340fs)deletion Pathogenic 13833 7:42079647-42079647 7:42040048-42040048
46 GLI3 NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)SNV Pathogenic 38326 rs116840770 7:42005190-42005190 7:41965592-41965592
47 FGD1 NM_004463.3(FGD1):c.527del (p.Pro176fs)deletion Pathogenic 374329 rs756586058 X:54497148-54497148 X:54470715-54470715
48 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)duplication Pathogenic 376814 rs1057520063 7:42004239-42004240 7:41964641-41964642
49 FGD1 NM_004463.3(FGD1):c.527dup (p.Leu177fs)duplication Pathogenic/Likely pathogenic 196389 rs756586058 X:54497147-54497148 X:54470714-54470715
50 GLI3 NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu)SNV Likely pathogenic 802305 7:42004595-42004595 7:41964997-41964997

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:

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 cell projection GO:0042995 9.8 KIF7 IQCE GLI3 GLI2 FGD1 CIBAR1
2 ciliary tip GO:0097542 9.46 KIF7 GLI3 GLI2 GLI1
3 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
4 ciliary base GO:0097546 9.26 GLI3 GLI2 GLI1 CIBAR1
5 cilium GO:0005929 9.17 PTCH1 KIF7 IQCE 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 positive regulation of transcription, DNA-templated GO:0045893 10.12 SHH PTCH1 GLI3 GLI2 GLI1
2 in utero embryonic development GO:0001701 10.01 PTCH1 IHH GLI3 GLI2
3 anterior/posterior pattern specification GO:0009952 9.95 SHH GLI3 GLI2 CDON
4 lung development GO:0030324 9.92 SHH GLI3 GLI2 GLI1
5 kidney development GO:0001822 9.9 SHH GLI3 GLI2
6 osteoblast differentiation GO:0001649 9.89 IHH GLI2 GLI1
7 camera-type eye development GO:0043010 9.87 SHH IHH GLI3
8 negative regulation of cell differentiation GO:0045596 9.87 SHH IHH GLI3
9 anatomical structure development GO:0048856 9.87 SHH GLI3 GLI2
10 odontogenesis of dentin-containing tooth GO:0042475 9.87 SHH GLI3 GLI2
11 embryonic limb morphogenesis GO:0030326 9.86 SHH PTCH1 GLI3
12 embryonic organ development GO:0048568 9.86 SHH PTCH1 GLI3
13 branching involved in ureteric bud morphogenesis GO:0001658 9.85 SHH PTCH1 GLI3
14 cell fate specification GO:0001708 9.85 SHH IHH CDON
15 liver regeneration GO:0097421 9.85 PTCH1 IHH GLI3 GLI1
16 mammary gland development GO:0030879 9.83 PTCH1 GLI3 GLI2
17 negative regulation of smoothened signaling pathway GO:0045879 9.83 PTCH1 KIF7 GLI3 GLI2
18 developmental growth GO:0048589 9.82 SHH GLI3 GLI2
19 branching morphogenesis of an epithelial tube GO:0048754 9.82 SHH GLI3 GLI2
20 proximal/distal pattern formation GO:0009954 9.81 GLI3 GLI2 GLI1
21 embryonic digit morphogenesis GO:0042733 9.8 SHH LMBR1 IHH GLI3 GLI2
22 embryonic morphogenesis GO:0048598 9.79 SHH GLI3 CDON
23 anatomical structure formation involved in morphogenesis GO:0048646 9.79 SHH GLI3 GLI2
24 embryonic digestive tract morphogenesis GO:0048557 9.78 SHH IHH GLI3
25 spinal cord motor neuron differentiation GO:0021522 9.78 SHH PTCH1 GLI3 GLI2
26 somite development GO:0061053 9.77 SHH PTCH1 IHH
27 smooth muscle tissue development GO:0048745 9.77 SHH PTCH1 IHH
28 pattern specification process GO:0007389 9.77 SHH PTCH1 IHH GLI3 GLI2
29 dorsal/ventral neural tube patterning GO:0021904 9.76 SHH PTCH1 GLI2
30 positive regulation of alpha-beta T cell differentiation GO:0046638 9.75 SHH IHH GLI3
31 positive regulation of T cell differentiation in thymus GO:0033089 9.74 SHH IHH GLI2
32 hindbrain development GO:0030902 9.73 SHH GLI2
33 smoothened signaling pathway involved in dorsal/ventral neural tube patterning GO:0060831 9.73 PTCH1 GLI3 GLI2
34 striated muscle cell differentiation GO:0051146 9.72 SHH CDON
35 osteoblast development GO:0002076 9.72 SHH GLI2
36 embryonic digestive tract development GO:0048566 9.72 GLI3 GLI2
37 protein autoprocessing GO:0016540 9.72 SHH IHH
38 digestive tract morphogenesis GO:0048546 9.71 SHH GLI1
39 negative thymic T cell selection GO:0045060 9.71 SHH GLI3
40 metanephric collecting duct development GO:0072205 9.71 SHH PTCH1
41 spinal cord dorsal/ventral patterning GO:0021513 9.71 SHH GLI3 GLI2
42 artery development GO:0060840 9.7 SHH GLI3
43 positive regulation of skeletal muscle tissue development GO:0048643 9.7 SHH CDON
44 smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation GO:0021938 9.69 SHH GLI2 GLI1
45 mammary gland duct morphogenesis GO:0060603 9.68 PTCH1 GLI2
46 cerebellar cortex morphogenesis GO:0021696 9.68 GLI2 GLI1
47 cell differentiation involved in kidney development GO:0061005 9.67 PTCH1 GLI3
48 tube development GO:0035295 9.67 GLI3 GLI2
49 hindgut morphogenesis GO:0007442 9.67 SHH GLI3 GLI2
50 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification GO:0021776 9.66 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 8.8 SHH PTCH1 IHH

Sources for Greig Cephalopolysyndactyly Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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