MCID: CSY001
MIFTS: 53

C Syndrome

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

Aliases & Classifications for C Syndrome

MalaCards integrated aliases for C Syndrome:

Name: C Syndrome 54 50 24 56 71 29 13
Opitz Trigonocephaly Syndrome 50 24 56 71 69
Trigonocephaly C Syndrome 50 56
Trigonocephaly Syndrome 50 71
Trigonocephaly 29 52
Opitz Trigonocephaly C Syndrome 56
Opitz C Trigonocephaly 56
Otcs 56
Csyn 71

Characteristics:

Orphanet epidemiological data:

56
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
c syndrome:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for C Syndrome

NIH Rare Diseases : 50 c syndrome, also known as opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corners of the eyes), epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. this condition is genetically heterogeneous, meaning that there is evidence of more than one type of inheritance. while many cases are sporadic, autosomal recessive, autosomal dominant, and germline mosaicism have all been suggested. at least some cases of c syndrome have been caused by dysfunction of the cd96 gene.   last updated: 6/19/2014

MalaCards based summary : C Syndrome, also known as opitz trigonocephaly syndrome, is related to trigonocephaly 2 and trigonocephaly 1, and has symptoms including short stature, strabismus and seizures. An important gene associated with C Syndrome is CD96 (CD96 Molecule). The drugs Orlistat and Glatiramer Acetate have been mentioned in the context of this disorder. Affiliated tissues include myeloid, liver and heart, and related phenotype is renal/urinary system.

UniProtKB/Swiss-Prot : 71 C syndrome: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

OMIM : 54
The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. (211750)

Wikipedia : 72 Trigonocephaly (Greek: \'trigonon\' = triangle, \'kephale\' = head) is a congenital condition of... more...

Related Diseases for C Syndrome

Graphical network of the top 20 diseases related to C Syndrome:



Diseases related to C Syndrome

Symptoms & Phenotypes for C Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
high-arched palate
macrostomia
oral frenula
thick anterior alveolar ridges

Neurologic- Central Nervous System:
hypotonia
seizures
psychomotor retardation

Abdomen- Liver:
hepatomegaly

Head And Neck- Ears:
low-set ears
posteriorly rotated ears

Cardiovascular- Vascular:
patent ductus arteriosus

Head And Neck- Nose:
short nose
anteverted nares
broad nasal bridge

Cardiovascular- Heart:
ventricular septal defect

Skeletal- Hands:
clinodactyly
postaxial polydactyly
ulnar deviation of the fingers
terminal transverse limb reduction
metacarpal hypoplasia

Skeletal- Feet:
syndactyly
postaxial polydactyly
terminal transverse limb reduction

Genitourinary- External Genitalia Female:
prominent clitoris

Genitourinary- Kidneys:
renal cortical cysts

Growth- Other:
failure to thrive

Skeletal- Spine:
scoliosis

Head And Neck- Eyes:
strabismus
epicanthal folds
upward slanting palpebral fissures

Head And Neck- Head:
microcephaly
trigonocephaly

Head And Neck- Face:
micrognathia

Skeletal- Pelvis:
hip dislocation

Genitourinary- Internal Genitalia Male:
cryptorchidism

Abdomen- External Features:
omphalocele

Skeletal- Limbs:
radial head dislocation
short limbs

Skeletal:
delayed skeletal maturation

Chest- Ribs Sternum Clavicles And Scapulae:
pectus deformities
anomalous ribs
fused sternal ossification centers

Skin Nails & Hair- Skin:
skin laxity


Clinical features from OMIM:

211750

Human phenotypes related to C Syndrome:

56 32 (show top 50) (show all 78)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
4 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
5 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
7 cleft palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000175
8 polyhydramnios 56 32 occasional (7.5%) Occasional (29-5%) HP:0001561
9 trigonocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000243
10 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
11 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
12 cryptorchidism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000028
13 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
14 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
15 thin vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0000233
16 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
17 omphalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0001539
18 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
19 horseshoe kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000085
20 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
21 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
22 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
23 high palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000218
24 micromelia 56 32 frequent (33%) Frequent (79-30%) HP:0002983
25 smooth philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000319
26 epicanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000286
27 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
28 redundant skin 56 32 frequent (33%) Frequent (79-30%) HP:0001582
29 talipes 56 32 frequent (33%) Frequent (79-30%) HP:0001883
30 sacral dimple 56 32 frequent (33%) Frequent (79-30%) HP:0000960
31 congenital diaphragmatic hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000776
32 dislocated radial head 56 32 frequent (33%) Frequent (79-30%) HP:0003083
33 midline facial capillary hemangioma 56 32 frequent (33%) Frequent (79-30%) HP:0007601
34 failure to thrive in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0001531
35 biparietal narrowing 56 32 hallmark (90%) Very frequent (99-80%) HP:0004422
36 gingival overgrowth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000212
37 renal hypoplasia/aplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0008678
38 bilateral single transverse palmar creases 56 32 frequent (33%) Frequent (79-30%) HP:0007598
39 aplasia/hypoplasia of the abdominal wall musculature 56 32 occasional (7.5%) Occasional (29-5%) HP:0010318
40 limitation of joint mobility 56 32 frequent (33%) Frequent (79-30%) HP:0001376
41 abnormality of immune system physiology 56 32 frequent (33%) Frequent (79-30%) HP:0010978
42 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
43 multicystic kidney dysplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000003
44 hypoplasia of the ear cartilage 56 32 hallmark (90%) Very frequent (99-80%) HP:0100720
45 upslanted palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0000582
46 hand polydactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001161
47 abnormal hair pattern 56 32 occasional (7.5%) Occasional (29-5%) HP:0010720
48 female pseudohermaphroditism 56 32 hallmark (90%) Very frequent (99-80%) HP:0010458
49 aplasia/hypoplasia of the corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0007370
50 abnormality of the anus 56 32 frequent (33%) Frequent (79-30%) HP:0004378

UMLS symptoms related to C Syndrome:


seizures

MGI Mouse Phenotypes related to C Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.8 FGFR1 HGSNAT IFT140

Drugs & Therapeutics for C Syndrome

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

(show top 50) (show all 1314)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
2
Glatiramer Acetate Approved, Investigational Phase 4,Phase 3,Phase 2 147245-92-9 3081884
3
Ticagrelor Approved Phase 4,Phase 2,Phase 3,Phase 1 274693-27-5 9871419
4
Ticlopidine Approved Phase 4,Phase 2,Phase 3,Phase 1 55142-85-3 5472
5
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
6
Telmisartan Approved, Investigational Phase 4,Phase 3,Phase 2 144701-48-4 65999
7
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
8
Pentoxifylline Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 6493-05-6 4740
9
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
10
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1 73590-58-6 4594
11
Pantoprazole Approved Phase 4 102625-70-7 4679
12
Cyproterone Acetate Approved, Investigational Phase 4,Early Phase 1 427-51-0
13
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 1,Early Phase 1 57-63-6 5991
14
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
15
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
16
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
17
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154598-52-4 64139
18
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 134678-17-4 60825
19
Lopinavir Approved Phase 4,Phase 3,Phase 2 192725-17-0 92727
20
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155213-67-5 392622
21
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1 30516-87-1 35370
22
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
23
Amlodipine Approved Phase 4,Phase 3,Phase 2 88150-42-9 2162
24
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
25
Losartan Approved Phase 4,Phase 3,Early Phase 1 114798-26-4 3961
26
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
27
Spironolactone Approved Phase 4,Phase 1,Early Phase 1 1952-01-7, 52-01-7 5833
28
Esomeprazole Approved, Investigational Phase 4,Phase 3,Phase 1 161796-78-7, 119141-88-7 4594 9579578
29
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
30 Beractant Approved Phase 4,Phase 2,Phase 3 108778-82-1
31
Budesonide Approved Phase 4 51333-22-3 63006 5281004
32
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
33
Propafenone Approved Phase 4 54063-53-5 4932
34
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
35
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
36
Povidone Approved Phase 4,Phase 3,Phase 2 9003-39-8
37
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
38
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
39
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
40
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
41
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
42
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 3,Phase 1 59467-70-8 4192
43
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1 57-27-2 5288826
44
Aripiprazole Approved, Investigational Phase 4,Phase 2,Phase 3 129722-12-9 60795
45
Cobicistat Approved Phase 4,Phase 3,Phase 2,Phase 1 1004316-88-4
46
Darunavir Approved Phase 4,Phase 3,Phase 2,Phase 1 635728-49-3, 206361-99-1 213039
47
Rilpivirine Approved Phase 4,Phase 3,Phase 2,Phase 1 500287-72-9
48
Zinc Approved Phase 4,Phase 3,Phase 2 7440-66-6 32051 23994
49
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3 137-58-6 3676
50
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 3590)

id Name Status NCT ID Phase Drugs
1 LDL-C Lowering Efficacy and Safety of Rosuvastatin 20 mg/Day to10 mg/Day in Chinese ACS(Acute Coronary Syndrome) Patients Unknown status NCT02077257 Phase 4 Rosuvastatin
2 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4 Orlistat
3 Optical Coherence Tomography: Glatiramer in Clinically Isolated Syndrome or Early Relapsing Remitting Multiple Sclerosis (MS) Unknown status NCT00910598 Phase 4 glatiramer acetate
4 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4 Ivabradine;Placebo
5 Platelet Resistance With Ticagrelor or Standard-Dose Clopidogrel Among CKD and ACS Patients Unknown status NCT02459288 Phase 4 Clopidogrel first;Ticagrelor first
6 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
7 Telmisartan Versus Ramipril After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4 TELMISARTAN;RAMIPRIL
8 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
9 Effect of Pentoxifylline on Tight Junctions (TJs) of Intestinal Mucosa in Patients With Irritable Bowel Syndrome(IBS) Unknown status NCT01542268 Phase 4 pentoxifylline;pentoxifylline placebo
10 Assessment of Coronary Flow Reserve by Doppler Flow Wire in Patients With Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention Differences Between the Loading Dose of Ticagrelor and Clopidogrel Unknown status NCT02032290 Phase 4 ticagrelor loading;Clopidogrel loading
11 Efficacy and Safety of Lobeglitazone Versus Sitagliptin Unknown status NCT02480465 Phase 4 Lobelitazone 0.5mg;Sitagliptin 100mg
12 "Pharmacodynamic Comparison of Omeprazole Versus Pantoprazole on Platelet Reactivity in Patients With Acute Coronary Syndromes on Dual Antiplatelet Therapy With New P2Y12 Inhibitors" -Trial dOPPLER- Unknown status NCT02028234 Phase 4 Pantoprazole,;Omeprazole
13 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
14 The Effect of Weight Loss on Anti-Müllerian Hormone Levels in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT01475019 Phase 4 Orlistat;Sibutramine
15 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4 probiotic (bacterial/dietary supplement)
16 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4 ticagrelor
17 PCOS, Therapy and Markers of Cardiovascular Risk Unknown status NCT01798875 Phase 4 oral metformin;oral contraceptive
18 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
19 Effect of Intravenous Acetadote on Incidence of Contrast Induced Nephropathy Unknown status NCT00939913 Phase 4 intravenous NAC;Placebo
20 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
21 Assessment of Coronary Flow Reserve by Doppler Flow WIre in Patients With Acute Coronary Syndrome Undergoing Percutaneous Coronary Intervention: Differences Between the Loading Dose of Prasugrel and Ticagrelor . Unknown status NCT02032303 Phase 4 Ticagrelor loading;Prasugrel loading
22 Strategies for Ovulation Induction in Anovulatory Infertile Patients With PCOS Unknown status NCT00461643 Phase 4 Clomiphene citrate, metformin, metformin plus clomiphene citrate, gonadotropins
23 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
24 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4 zidovudine+lamivudine+lopinavir/ritonavir;zidovudine + lamivudine + efavirenz
25 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
26 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
27 Hormones Inflammation and Thrombosis Unknown status NCT01875185 Phase 4 Aspirin 81 mg PO daily x 7 days
28 Changes in Endothelial Function and Biomarkers in African Americans (AA) With Metabolic Syndrome Unknown status NCT01271374 Phase 4 amlodipine and olmesartan;losartan and HCTZ
29 Gastric Functions & Proton Pump Inhibitor( PPI) Study Unknown status NCT00951431 Phase 4 Esomeprazole;Placebo
30 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4 l-123 Ioflupane
31 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4 Ranolazine
32 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4 curcumin
33 Participation and Detection Rate Diagnostic of a Colorectal Cancer Screening Program: CT Colonography vs. Flexible Sigmoidoscopy Unknown status NCT01739608 Phase 4
34 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
35 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
36 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4 Amiodarone;Propafenone;Sotalol
37 Korean AMADEUS Study Unknown status NCT01239849 Phase 4 Atorvastatin, 10mg, 20mg, 40mg
38 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
39 Safety and Efficacy of Low-dose Ticagrelor in Chinese Patients With Stable Coronary Artery Disease Unknown status NCT02514642 Phase 4 low-dose ticagrelor;Clopidogrel
40 A Trial to Study the Effect of Long Term Vitamin D Supplementation on Insulin Sensitivity Unknown status NCT01052181 Phase 4 Cholecalciferol;placebo
41 Efficacy of FreshKote and Systane for the Treatment of Dry Eye and Improvement of Osmolarity Unknown status NCT01386073 Phase 4 FreshKote;Systane
42 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4 flucinolone acetonide
43 Safety and Efficacy Study Comparing Raltegravir to a Protease Inhibitor in Treatment-naïve, HIV/Hepatitis C Drug Users Unknown status NCT01105611 Phase 4 Raltegravir;Atazanavir/Ritonavir
44 Efficacy of PTX+IFN Alpha+ RBV on Hepatitis C Virus Coinfected HIV Patients Unknown status NCT02008214 Phase 4 Pentoxifylline;Placebo
45 Clopidogrel Reloading in Patients With NSTEACS Undergoing Percutaneous Coronary Intervention on Chronic Clopidogrel Therapy Unknown status NCT01572129 Phase 4 Clopidogrel;Placebo
46 Efficacy of Ticagrelor vs Clopidogrel in High-risk NSTE-ACS Patients Undergoing Early PCI Unknown status NCT02201667 Phase 4 Ticagrelor;clopidogrel;Aspirin
47 Impact of Ticagrelor on the Endothelial Healing Following Drug-eluting Stent Implantation in the Patients With Acute Coronary Syndrome Unknown status NCT02037412 Phase 4 Ticagrelor;Clopidogrel
48 BLADE: Comparison of Once Daily Lopinavir/Ritonavir to Lopinavir/Ritonavir BID Dosing in HIV-Infected Subjects Unknown status NCT00388492 Phase 4
49 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
50 The Effect of Reloading Prasugrel in a Patient Who Has Already Received a Loading Dose (LD) of Clopidogrel Unknown status NCT01365221 Phase 4 Prasugrel;Prasugrel

Search NIH Clinical Center for C Syndrome

Genetic Tests for C Syndrome

Genetic tests related to C Syndrome:

id Genetic test Affiliating Genes
1 C Syndrome 29 24 CD96
2 Trigonocephaly 29

Anatomical Context for C Syndrome

MalaCards organs/tissues related to C Syndrome:

39
Myeloid, Liver, Heart, Eye, Bone, Testes, Lung

Publications for C Syndrome

Articles related to C Syndrome:

(show all 19)
id Title Authors Year
1
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. ( 27874174 )
2016
2
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. ( 26347037 )
2015
3
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). ( 20583299 )
2010
4
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. ( 19449408 )
2009
5
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. ( 17414277 )
2007
6
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. ( 17397050 )
2007
7
Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). ( 17033958 )
2006
8
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). ( 16835930 )
2006
9
Partial trisomy 13 with features similar to C syndrome. ( 15235171 )
2004
10
Opitz trigonocephaly C syndrome associated with hearing loss. ( 14651551 )
2003
11
Severe end of Opitz trigonocephaly C syndrome. ( 10861669 )
2000
12
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? ( 10405439 )
1999
13
Probable Opitz trigonocephaly C syndrome with medulloblastoma. ( 9098489 )
1997
14
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. ( 1472356 )
1992
15
C syndrome and omphalocele: another example. ( 1362631 )
1992
16
C syndrome with apparently normal development. ( 2260587 )
1990
17
Opitz C syndrome and pseudohypoaldosteronism. ( 2175542 )
1990
18
Familial type C syndrome of insulin resistance and short stature with possible autosomal dominant transmission. ( 2684618 )
1989
19
Ara-C syndrome during low-dose continuous infusion therapy. ( 3784982 )
1986

Variations for C Syndrome

UniProtKB/Swiss-Prot genetic disease variations for C Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

ClinVar genetic disease variations for C Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CD96 CD96, EXONIC BREAKPOINT undetermined variant Pathogenic
2 CD96 NM_198196.2(CD96): c.839C> T (p.Thr280Met) single nucleotide variant Pathogenic rs119477056 GRCh37 Chromosome 3, 111304209: 111304209

Expression for C Syndrome

Search GEO for disease gene expression data for C Syndrome.

Pathways for C Syndrome

GO Terms for C Syndrome

Biological processes related to C Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 skeletal system morphogenesis GO:0048705 8.62 FGFR1 IFT140

Sources for C Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....