GCPS
MCID: GRG001
MIFTS: 67

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
Cephalopolysyndactyly Syndrome 24 25
Polysyndactyly with Peculiars Skull Shape 12
Greig Cephalo-Poly-Syndactyly Syndrome 73
Cephalopolysyndactyly, Greig Syndrome 39
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 One case of apparent non-penetrance has been reported [debeer et al 2003]. it is difficult to estimate a rate of non-penetrance from a single instance, but it is probably a small fraction.

Classifications:

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 polydactyly 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 Ethambutol and Isoniazid 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 123)
# Related Disease Score Top Affiliating Genes
1 polydactyly 31.0 SHH LMBR1 HOXD13 GLI3 GLI2 GLI1
2 acrocallosal syndrome 30.9 SHH KIF7 IHH GLI3
3 brachydactyly 30.3 SHH PTCH1 IHH HOXD13 FGD1
4 craniosynostosis 30.0 IHH GLI3 FGF8 ALX4
5 synostosis 29.8 SHH LMBR1 HOXD13 GLI3 FGF8 ALX4
6 chromosome 2q35 duplication syndrome 29.4 ZP2 SHH PTCH1 LMBR1 IHH HOXD13
7 pallister-hall syndrome 29.2 ZP2 SHH PTCH1 KIF7 IHH HOXD13
8 carpenter syndrome 1 11.9
9 hypertelorism 10.8
10 polydactyly, postaxial, type a1 10.7
11 holoprosencephaly, recurrent infections, and monocytosis 10.5 PTCH1 GLI2
12 calcifying epithelial odontogenic tumor 10.5 PTCH1 GLI2
13 maturity-onset diabetes of the young, type 2 10.4
14 maturity-onset diabetes of the young 10.4
15 hydrocephalus 10.4
16 radial hemimelia 10.4 SHH LMBR1
17 hemimelia 10.4 GLI3 GLI2 GLI1
18 tibia, hypoplasia or aplasia of, with polydactyly 10.4 SHH LMBR1
19 esophageal atresia 10.4 SHH GLI3 GLI2
20 melanotic medulloblastoma 10.3 SHH PTCH1
21 syndactyly, type iv 10.3 SHH LMBR1
22 micronodular basal cell carcinoma 10.3 SHH PTCH1 GLI2
23 tooth size 10.3 SHH FGF8
24 polydactyly, preaxial ii 10.3 SHH LMBR1
25 corpus callosum lipoma 10.3 SHH GLI2
26 sugarman brachydactyly 10.3 IHH HOXD13
27 cerebellar medulloblastoma 10.3 SHH PTCH1 GLI1
28 cerebral hemisphere lipoma 10.3 SHH GLI2
29 laurin-sandrow syndrome 10.3 SHH LMBR1
30 cerebellum cancer 10.3 SHH PTCH1 GLI1
31 keratocystic odontogenic tumor 10.3 SHH PTCH1 GLI1
32 diabetes mellitus, noninsulin-dependent 10.3
33 polydactyly, preaxial iv 10.3
34 autism 10.3
35 c syndrome 10.3
36 alacrima, achalasia, and mental retardation syndrome 10.3
37 autism spectrum disorder 10.3
38 monocular esotropia 10.3
39 ichthyosis 10.3
40 hyperglycemia 10.3
41 myopathy 10.3
42 radiculopathy 10.3
43 esotropia 10.3
44 microcephaly 10.3
45 chromosome 7p deletion 10.3
46 monogenic diabetes 10.3
47 skin benign neoplasm 10.3 PTCH1 GLI2 GLI1
48 brachydactyly, type a4 10.3 IHH HOXD13
49 congenital hypopituitarism 10.2 SHH GLI2
50 skeletal muscle cancer 10.2 SHH PTCH1 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 31 (show all 39)
# 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 frontal bossing 58 31 very rare (1%) Frequent (79-30%) HP:0002007
6 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
7 wide nasal bridge 58 31 very rare (1%) Frequent (79-30%) HP:0000431
8 broad hallux phalanx 58 31 frequent (33%) Occasional (29-5%) HP:0010059
9 broad thumb 58 31 frequent (33%) Occasional (29-5%) HP:0011304
10 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
11 high forehead 58 31 very rare (1%) Frequent (79-30%) HP:0000348
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 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
18 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
19 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
20 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
21 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
22 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
23 postaxial foot polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001830
24 inguinal hernia 31 occasional (7.5%) HP:0000023
25 cryptorchidism 31 occasional (7.5%) HP:0000028
26 downslanted palpebral fissures 31 occasional (7.5%) HP:0000494
27 hypospadias 31 occasional (7.5%) HP:0000047
28 delayed cranial suture closure 31 occasional (7.5%) HP:0000270
29 abnormal heart morphology 31 occasional (7.5%) HP:0001627
30 hyperglycemia 31 occasional (7.5%) HP:0003074
31 hirsutism 31 occasional (7.5%) HP:0001007
32 camptodactyly of toe 31 occasional (7.5%) HP:0001836
33 joint contracture of the hand 31 occasional (7.5%) HP:0009473
34 metopic synostosis 31 occasional (7.5%) HP:0011330
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 trigonocephaly 31 HP:0000243
39 scaphocephaly 31 HP:0030799

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
trigonocephaly
scaphocephaly

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

Genitourinary External Genitalia Male:
inguinal hernia

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

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

Head And Neck Nose:
broad nasal root

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures

Head And Neck Face:
frontal bossing
high forehead

Abdomen External Features:
umbilical hernia

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

Skeletal:
advanced bone age

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

Clinical features from OMIM:

175700

MGI Mouse Phenotypes related to Greig Cephalopolysyndactyly Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ALX4 CCM2 CDON FGD1 FGF8 GCK
2 embryo MP:0005380 10.38 ALX4 CCM2 CDON FGD1 FGF8 GLI1
3 cellular MP:0005384 10.35 CCM2 CDON FGF8 GCK GLI1 GLI2
4 mortality/aging MP:0010768 10.35 ALX4 CCM2 CDON FGD1 FGF8 GCK
5 craniofacial MP:0005382 10.34 ALX4 CCM2 CDON FGD1 FGF8 GLI1
6 digestive/alimentary MP:0005381 10.29 ALX4 CDON FGF8 GLI1 GLI2 GLI3
7 limbs/digits/tail MP:0005371 10.27 ALX4 CDON FGF8 GLI1 GLI2 GLI3
8 endocrine/exocrine gland MP:0005379 10.22 FGF8 GCK GLI1 GLI2 GLI3 HOXD13
9 nervous system MP:0003631 10.17 ALX4 CCM2 CDON FGF8 GLI1 GLI2
10 muscle MP:0005369 10.11 ALX4 CCM2 FGF8 GLI2 HOXD13 IHH
11 normal MP:0002873 10.02 ALX4 CCM2 FGF8 GLI1 GLI2 GLI3
12 no phenotypic analysis MP:0003012 10.01 GLI1 GLI2 GLI3 HOXD13 IHH KIF7
13 reproductive system MP:0005389 9.91 FGF8 GLI1 GLI2 GLI3 HOXD13 KIF7
14 renal/urinary system MP:0005367 9.87 FGF8 GCK GLI1 GLI3 HOXD13 PTCH1
15 respiratory system MP:0005388 9.85 ALX4 CDON FGF8 GLI1 GLI2 GLI3
16 skeleton MP:0005390 9.7 ALX4 CDON FGF8 GLI2 GLI3 HOXD13
17 vision/eye MP:0005391 9.4 ALX4 CCM2 CDON FGD1 FGF8 GLI2

Drugs & Therapeutics for Greig Cephalopolysyndactyly Syndrome

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

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethambutol Approved Phase 4 74-55-5 3279 14052
2
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
3
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
4
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
5
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
6 Hypolipidemic Agents Phase 4
7 Antibiotics, Antitubercular Phase 4
8 Antitubercular Agents Phase 4
9 Cytochrome P-450 CYP3A Inducers Phase 4
10 Lipid Regulating Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Anti-Retroviral Agents Phase 4
13 Reverse Transcriptase Inhibitors Phase 4
14 Anti-HIV Agents Phase 4
15 Antiviral Agents Phase 4
16
Sofosbuvir Approved Phase 2, Phase 3 1190307-88-0 45375808
17
Ribavirin Approved Phase 2, Phase 3 36791-04-5 37542
18 Antimetabolites Phase 2, Phase 3
19
Hyaluronic acid Approved, Vet_approved Phase 2 9004-61-9 53477741
20
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
21 Immunologic Factors Phase 2
22 Protective Agents Phase 2
23 Viscosupplements Phase 2
24 Adjuvants, Immunologic Phase 2
25 Analgesics, Non-Narcotic Phase 2
26 Anti-Inflammatory Agents, Non-Steroidal Phase 2
27 Analgesics Phase 2
28 Antirheumatic Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Liver Extracts Phase 2
31
Apremilast Approved, Investigational Phase 1 608141-41-9 11561674
32
Lenalidomide Approved Phase 1 191732-72-6 216326
33
Ranibizumab Approved Phase 1 347396-82-1 459903
34
Triamcinolone Approved, Vet_approved Phase 1 124-94-7 31307
35 Anti-Bacterial Agents Phase 1
36 Angiogenesis Inhibitors Phase 1
37 Immunosuppressive Agents Phase 1
38 glucocorticoids Phase 1
39 Triamcinolone diacetate Phase 1
40 Hormone Antagonists Phase 1
41 Triamcinolone hexacetonide Phase 1
42 triamcinolone acetonide Phase 1
43 Hormones Phase 1
44
Hydrocortisone Approved, Vet_approved 50-23-7 5754
45
Hydrocortisone acetate Approved, Vet_approved 50-03-3
46
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338
47
Acetylcholine Approved, Investigational 51-84-3 187
48
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
49
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
50 Trace Elements

Interventional clinical trials:

(show all 23)
# 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 Neuroimaging Age-related Versus Pain-related Changes in Pain Modulation Recruiting NCT02488863
23 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, Bone, Cerebellum, Liver, Brain, Testes

Publications for Greig Cephalopolysyndactyly Syndrome

Articles related to Greig Cephalopolysyndactyly Syndrome:

(show top 50) (show all 411)
# 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 54 24 56 6
12794692 2003
2
Point mutations in human GLI3 cause Greig syndrome. 56 24 54 61 6
9302279 1997
3
The Greig cephalopolysyndactyly syndrome. 6 56 24 61
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. 61 6 56 24
15739154 2005
5
Metopic craniosynostosis due to mutations in GLI3: A novel association. 61 6 56
20583172 2010
6
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. 24 56 61 54
14608643 2003
7
De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. 24 56 54 61
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. 61 56 6
10678662 2000
9
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. 24 6 54 61
10441342 1999
10
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13. 6 56 61
1879832 1991
11
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 56 6
18000979 2007
12
Phenotype of five patients with Greig syndrome and microdeletion of 7p13. 61 24 56
11484201 2001
13
Greig cephalopolysyndactyly: report of 13 affected individuals in three families. 6 56
6641002 1983
14
A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. 61 54 56
8387379 1993
15
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
16
New insights into genotype-phenotype correlation for GLI3 mutations. 56 61
24736735 2015
17
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. 61 56
21326280 2011
18
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. 61 54 24
18154020 2007
19
Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. 61 6
15811011 2005
20
Greig Cephalopolysyndactyly Syndrome 61 6
20301619 2001
21
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. 24 61 54
9054938 1997
22
Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family. 61 56
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. 61 56
1981052 1990
26
Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). 61 56
3239570 1988
27
Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. 56 61
3239571 1988
28
The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature. 61 56
3901752 1985
29
A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome. 56 61
6316787 1983
30
The Greig cephalopolysyndactyly syndrome in a Canadian family. 56 61
6295159 1982
31
A de novo GLI3 mutation in a patient with acrocallosal syndrome. 61 24
23633388 2013
32
Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit. 56
20503312 2010
33
Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes. 61 24
17098889 2007
34
Spectrum of the acrocallosal syndrome. 61 24
11857542 2002
35
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum: an example of the variable clinical spectrum of the Acrocallosal syndrome? 56
9220202 1997
36
Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum. 56
8723570 1996
37
Regional and physical mapping studies characterizing the Greig polysyndactyly 3;7 chromosome translocation, t(3;7)(p21.1;p13). 56
2545596 1989
38
Greig syndrome in a large kindred due to reciprocal chromosome translocation t(6;7)(q27;p13). 56
2729360 1989
39
Schinzel acrocallosal syndrome: a variant example of the Greig syndrome? 56
3879437 1985
40
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
41
[Greig's syndrome: variable polysyndactyly associated with distinct craniofacial dymorphism]. 56
6306158 1982
42
The Greig polysyndactyly craniofacial dysmorphism syndrome: variable expression in a family. 56
6262085 1981
43
A newborn infant with craniofacial dysmorphism and polysyndactyly (Greig's syndrome). 56
6263040 1981
44
A family with syndactyly type II (synpolydactyly). 56
199388 1977
45
Familial polysyndactyly and craniofacial anomalies. 56
4340995 1972
46
Frontodigital syndrome: a dominantly inherited disorder with normal intelligence. 56
4317883 1970
47
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. 24
21552264 2011
48
Elements of morphology: standard terminology for the periorbital region. 24
19125427 2009
49
Elements of morphology: standard terminology for the hands and feet. 24
19125433 2009
50
Elements of morphology: standard terminology for the head and face. 24
19125436 2009

Variations for Greig Cephalopolysyndactyly Syndrome

ClinVar genetic disease variations for Greig Cephalopolysyndactyly Syndrome:

6 (show top 50) (show all 238) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FGD1 NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)SNV Pathogenic 10832 rs137853266 X:54494229-54494229 X:54467796-54467796
2 FGD1 NM_004463.3(FGD1):c.944dup (p.Ala316fs)duplication Pathogenic 10833 rs1569541255 X:54496606-54496606 X:54470173-54470173
3 FGD1 NM_004463.3(FGD1):c.1396A>G (p.Met466Val)SNV Pathogenic 10834 rs137853267 X:54492230-54492230 X:54465797-54465797
4 GLI3 GLI3, DELdeletion Pathogenic 13813
5 GLI3 NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter)SNV Pathogenic 13822 rs121917711 7:42018218-42018218 7:41978619-41978619
6 GLI3 NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)SNV Pathogenic 13824 rs121917712 7:42012166-42012166 7:41972567-41972567
7 GLI3 NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)SNV Pathogenic 13826 rs121917713 7:42079797-42079797 7:42040198-42040198
8 GLI3 NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)SNV Pathogenic 13828 rs121917714 7:42007251-42007251 7:41967653-41967653
9 GLI3 NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter)SNV Pathogenic 13830 rs121917715 7:42063078-42063078 7:42023479-42023479
10 GLI3 GLI3, 4-BP DEL, 4542CCACdeletion Pathogenic 13832
11 GLI3 NM_000168.6(GLI3):c.1018del (p.Ser340fs)deletion Pathogenic 13833 7:42079647-42079647 7:42040048-42040048
12 FGD1 NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)SNV Pathogenic 29974 rs387906718 X:54481930-54481930 X:54455497-54455497
13 GLI3 NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)SNV Pathogenic 38326 rs116840770 7:42005190-42005190 7:41965592-41965592
14 FGD1 FGD1, 1-BP DEL, 2189Adeletion Pathogenic 10831
15 FGD1 NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)SNV Pathogenic 10830 rs137853265 X:54494334-54494334 X:54467901-54467901
16 FGD1 FGD1, EX9-12DELdeletion Pathogenic 10827
17 FGD1 NM_004463.3(FGD1):c.1565G>A (p.Arg522His)SNV Pathogenic 10826 rs137853264 X:54491955-54491955 X:54465522-54465522
18 FGD1 NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)SNV Pathogenic 10825 rs28935497 X:54482666-54482666 X:54456233-54456233
19 FGD1 FGD1, 1-BP INS, 2122Ginsertion Pathogenic 10824
20 FGD1 NM_004463.3(FGD1):c.527del (p.Pro176fs)deletion Pathogenic 374329 rs756586058 X:54497148-54497148 X:54470715-54470715
21 GLI3 NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)duplication Pathogenic 376814 rs1057520063 7:42004240-42004240 7:41964642-41964642
22 GLI3 NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)SNV Pathogenic 435334 rs772948115 7:42005986-42005986 7:41966388-41966388
23 GLI3 NM_000168.6(GLI3):c.1878del (p.Lys626fs)deletion Pathogenic 459207 rs1554306093 7:42012161-42012161 7:41972562-41972562
24 GLI3 NM_000168.6(GLI3):c.4395del (p.Ser1466fs)deletion Pathogenic 459213 rs1554304380 7:42004276-42004276 7:41964678-41964678
25 GLI3 NM_000168.6(GLI3):c.750del (p.Tyr251fs)deletion Pathogenic 523635 rs1554317931 7:42085059-42085059 7:42045460-42045460
26 GLI3 NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)SNV Pathogenic 528805 rs1554306094 7:42012165-42012165 7:41972566-41972566
27 GLI3 NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)SNV Pathogenic 528800 rs116840766 7:42005347-42005347 7:41965749-41965749
28 GLI3 NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)indel Pathogenic 577666 rs1562657560 7:42004759-42004767 7:41965161-41965169
29 GLI3 NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)SNV Pathogenic 566915 rs1562656759 7:42004173-42004173 7:41964575-41964575
30 GLI3 NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)SNV Pathogenic 578154 rs1562690271 7:42063113-42063113 7:42023514-42023514
31 GLI3 NM_000168.6(GLI3):c.1778del (p.Arg593fs)deletion Pathogenic 642780 7:42017191-42017191 7:41977592-41977592
32 GLI3 NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)deletion Pathogenic 651052 7:42063130-42063131 7:42023532-42023533
33 GLI3 NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)SNV Pathogenic 664752 7:42065944-42065944 7:42026345-42026345
34 GLI3 NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)SNV Pathogenic 645072 7:42085056-42085056 7:42045457-42045457
35 GLI3 NM_000168.6(GLI3):c.4202del (p.Ser1401fs)deletion Pathogenic 694705 7:42004469-42004469 7:41964871-41964871
36 FGD1 NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)SNV Pathogenic 694686 X:54491930-54491930 X:54465497-54465497
37 FGD1 NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)deletion Pathogenic 694679 X:54495266-54495268 X:54468833-54468835
38 FGD1 NM_004463.3(FGD1):c.527dup (p.Leu177fs)duplication Pathogenic/Likely pathogenic 196389 rs756586058 X:54497148-54497148 X:54470715-54470715
39 FGD1 NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)SNV Likely pathogenic 547370 rs1269514277 X:54472700-54472700 X:54446267-54446267
40 FGD1 NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu)SNV Likely pathogenic 547365 rs1557189455 X:54494316-54494316 X:54467883-54467883
41 FGD1 NM_004463.3(FGD1):c.277dup (p.Tyr93fs)duplication Likely pathogenic 547364 rs1557191567 X:54521588-54521589 X:54495155-54495156
42 GLI3 NM_000168.6(GLI3):c.1028+1G>ASNV Likely pathogenic 528802 rs1375768446 7:42079636-42079636 7:42040037-42040037
43 FGD1 NM_004463.3(FGD1):c.892dup (p.Cys298fs)duplication Likely pathogenic 488057 rs1557189608 X:54496658-54496658 X:54470225-54470225
44 FGD1 NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)SNV Conflicting interpretations of pathogenicity 10828 rs28935498 X:54496615-54496615 X:54470182-54470182
45 GLI3 NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)SNV Conflicting interpretations of pathogenicity 283130 rs199875457 7:42004736-42004736 7:41965138-41965138
46 GLI3 NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)SNV Conflicting interpretations of pathogenicity 283570 rs146582871 7:42004842-42004842 7:41965244-41965244
47 GLI3 NM_000168.6(GLI3):c.1485G>A (p.Glu495=)SNV Conflicting interpretations of pathogenicity 284084 rs149248727 7:42063079-42063079 7:42023480-42023480
48 GLI3 NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)SNV Conflicting interpretations of pathogenicity 284525 rs148043302 7:42004909-42004909 7:41965311-41965311
49 GLI3 NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)SNV Conflicting interpretations of pathogenicity 284912 rs140048578 7:42007380-42007380 7:41967782-41967782
50 GLI3 NM_000168.6(GLI3):c.1959G>A (p.Pro653=)SNV Conflicting interpretations of pathogenicity 289071 rs148226583 7:42012080-42012080 7:41972481-41972481

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 cilium GO:0005929 9.55 PTCH1 KIF7 GLI3 GLI2 GLI1
2 axoneme GO:0005930 9.43 GLI3 GLI2 GLI1
3 ciliary base GO:0097546 9.13 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 77)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.27 SHH IHH HOXD13 GLI3 GLI2 GLI1
2 multicellular organism development GO:0007275 10.25 SHH IHH HOXD13 GLI2 GLI1 FGF8
3 positive regulation of transcription, DNA-templated GO:0045893 10.15 SHH PTCH1 GLI3 GLI2 GLI1
4 negative regulation of apoptotic process GO:0043066 10.14 SHH IHH GLI3 GLI2 FGF8
5 positive regulation of cell proliferation GO:0008284 10.14 SHH IHH GLI2 GLI1 FGF8
6 heart development GO:0007507 10.06 SHH GLI3 GLI2 FGF8 CCM2
7 in utero embryonic development GO:0001701 10.04 PTCH1 IHH GLI3 GLI2 CCM2
8 regulation of cell proliferation GO:0042127 10.03 SHH PTCH1 HOXD13 GLI3
9 skeletal system development GO:0001501 10.01 IHH HOXD13 GLI2 ALX4
10 kidney development GO:0001822 9.99 SHH GLI3 GLI2 FGF8
11 lung development GO:0030324 9.95 SHH GLI3 GLI2 GLI1 FGF8
12 osteoblast differentiation GO:0001649 9.92 IHH GLI2 GLI1
13 roof of mouth development GO:0060021 9.91 SHH GLI3 ALX4
14 camera-type eye development GO:0043010 9.91 SHH IHH GLI3
15 embryonic limb morphogenesis GO:0030326 9.91 SHH PTCH1 HOXD13 GLI3
16 heart looping GO:0001947 9.9 SHH IHH FGF8
17 negative regulation of cell differentiation GO:0045596 9.9 SHH IHH GLI3
18 odontogenesis of dentin-containing tooth GO:0042475 9.9 SHH GLI3 GLI2
19 inner ear development GO:0048839 9.9 SHH GLI3 CCM2
20 anatomical structure development GO:0048856 9.89 SHH GLI3 GLI2
21 metanephros development GO:0001656 9.88 SHH GLI3 FGF8
22 embryonic organ development GO:0048568 9.88 SHH PTCH1 GLI3
23 cell fate specification GO:0001708 9.88 SHH IHH CDON
24 mammary gland development GO:0030879 9.88 PTCH1 GLI3 GLI2
25 branching involved in ureteric bud morphogenesis GO:0001658 9.88 SHH PTCH1 GLI3 FGF8
26 anterior/posterior pattern specification GO:0009952 9.88 SHH HOXD13 GLI3 GLI2 CDON ALX4
27 developmental growth GO:0048589 9.86 SHH GLI3 GLI2
28 positive regulation of smoothened signaling pathway GO:0045880 9.86 SHH KIF7 IHH GLI1
29 embryonic hindlimb morphogenesis GO:0035116 9.85 SHH FGF8 ALX4
30 branching involved in blood vessel morphogenesis GO:0001569 9.85 SHH IHH FGF8
31 branching morphogenesis of an epithelial tube GO:0048754 9.85 SHH GLI3 GLI2
32 vasculature development GO:0001944 9.84 SHH IHH CCM2
33 liver regeneration GO:0097421 9.84 PTCH1 IHH GLI3 GLI1
34 proximal/distal pattern formation GO:0009954 9.83 GLI3 GLI2 GLI1
35 negative regulation of smoothened signaling pathway GO:0045879 9.82 PTCH1 KIF7 GLI3
36 embryonic morphogenesis GO:0048598 9.81 SHH GLI3 CDON
37 male genitalia development GO:0030539 9.81 SHH HOXD13 FGF8
38 anatomical structure formation involved in morphogenesis GO:0048646 9.8 SHH GLI3 GLI2
39 embryonic digestive tract morphogenesis GO:0048557 9.8 SHH IHH GLI3
40 somite development GO:0061053 9.79 SHH PTCH1 IHH
41 dorsal/ventral neural tube patterning GO:0021904 9.79 SHH PTCH1 GLI2
42 spinal cord motor neuron differentiation GO:0021522 9.78 SHH PTCH1 GLI3 GLI2
43 positive regulation of alpha-beta T cell differentiation GO:0046638 9.77 SHH IHH GLI3
44 dorsal/ventral pattern formation GO:0009953 9.77 SHH PTCH1 GLI3 GLI2 GLI1
45 positive regulation of T cell differentiation in thymus GO:0033089 9.76 SHH IHH GLI2
46 striated muscle cell differentiation GO:0051146 9.75 SHH CDON
47 osteoblast development GO:0002076 9.75 SHH GLI2
48 pharyngeal system development GO:0060037 9.75 PTCH1 FGF8
49 embryonic digestive tract development GO:0048566 9.75 GLI3 GLI2
50 digestive tract morphogenesis GO:0048546 9.74 SHH GLI1

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
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