CSYN
MCID: CSY001
MIFTS: 50

C Syndrome (CSYN) malady

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

Aliases & Classifications for C Syndrome

Aliases & Descriptions for C Syndrome:

Name: C Syndrome 54 50 24 56 66 13
Opitz Trigonocephaly Syndrome 50 24 56 66 69
Trigonocephaly Syndrome 50 66 29
Trigonocephaly C Syndrome 50 56
Opitz Trigonocephaly C Syndrome 56
Opitz C Trigonocephaly 56
Trigonocephaly 52
Otcs 56
Csyn 66
Cs 29

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 211750
Orphanet 56 ORPHA1308
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0796095
MeSH 42 D003398

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 1 and trigonocephaly 2, and has symptoms including constipation, seizures and short neck. 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 skin, bone and eye.

OMIM : 54 The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by... (211750) more...

UniProtKB/Swiss-Prot : 66 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.

Wikipedia : 71 Trigonocephaly (Greek: \'trigonon\' = triangle, \'kephale\' = head) is a congenital condition of... more...

Related Diseases for C Syndrome

Diseases related to C Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
id Related Disease Score Top Affiliating Genes
1 trigonocephaly 1 12.2
2 trigonocephaly 2 12.2
3 ornithine transcarbamylase deficiency 12.0
4 cockayne syndrome 11.6
5 xeroderma pigmentosum, group d 11.5
6 cowden syndrome 1 11.4
7 xeroderma pigmentosum, group f 11.4
8 xeroderma pigmentosum, group b 11.4
9 xeroderma pigmentosum, group g 11.4
10 cockayne syndrome, type a 11.2
11 diabetes mellitus, noninsulin-dependent 11.0
12 cerebral creatine deficiency syndrome 2 11.0
13 bartonellosis 11.0
14 cat-scratch disease 11.0
15 mitochondrial cardiomyopathy 11.0
16 critical illness polyneuropathy 11.0
17 cerebral creatine deficiency syndrome 11.0
18 x-linked sideroblastic anemia with ataxia 10.9
19 cowden disease 10.9
20 cpt deficiency, hepatic, type ii 10.9
21 carnitine palmitoyltransferase ii deficiency 10.9
22 xeroderma pigmentosum-cockayne syndrome complex 10.7
23 crouzon syndrome 10.7
24 bohring-opitz syndrome 10.6
25 cranioectodermal dysplasia 1 9.9 CD96 FGFR1
26 cushing's syndrome 9.9
27 hemoglobin constant spring 9.8
28 allergic rhinitis 9.8
29 hyperammonemia 9.8
30 encephalopathy 9.8
31 rhinitis 9.8
32 vaginitis 9.8
33 wolff-parkinson-white syndrome 9.7
34 dry eye syndrome 9.7
35 common cold 9.7
36 mental retardation epilepsy 9.7
37 hyperlysinemia 9.7
38 cerebritis 9.7
39 cerebral atrophy 9.7
40 hepatitis 9.7
41 epilepsy 9.7
42 gastroesophageal reflux 9.7
43 constipation 9.7
44 hiv-1 9.6
45 dermatitis 9.6
46 contact dermatitis 9.6
47 gastroschisis 9.6
48 testicular seminoma 9.6
49 sudden infant death syndrome 9.6
50 testicular cancer 9.6

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



Diseases related to C Syndrome

Symptoms & Phenotypes for C Syndrome

Symptoms by clinical synopsis from OMIM:

211750

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 constipation 56 32 Occasional (29-5%) HP:0002019
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
5 high palate 56 32 Very frequent (99-80%) HP:0000218
6 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 gingival overgrowth 56 32 Very frequent (99-80%) HP:0000212
9 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
10 short nose 56 32 Very frequent (99-80%) HP:0003196
11 microcephaly 56 32 Very frequent (99-80%) HP:0000252
12 smooth philtrum 56 32 Very frequent (99-80%) HP:0000319
13 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
14 short stature 56 32 Frequent (79-30%) HP:0004322
15 cleft palate 56 32 Occasional (29-5%) HP:0000175
16 long philtrum 56 32 Very frequent (99-80%) HP:0000343
17 micrognathia 56 32 Very frequent (99-80%) HP:0000347
18 aplasia/hypoplasia of the abdominal wall musculature 56 32 Occasional (29-5%) HP:0010318
19 strabismus 56 32 Frequent (79-30%) HP:0000486
20 micromelia 56 32 Frequent (79-30%) HP:0002983
21 epicanthus 56 32 Very frequent (99-80%) HP:0000286
22 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
23 biparietal narrowing 56 32 Very frequent (99-80%) HP:0004422
24 cryptorchidism 56 32 Very frequent (99-80%) HP:0000028
25 horseshoe kidney 56 32 Occasional (29-5%) HP:0000085
26 abnormality of immune system physiology 56 32 Frequent (79-30%) HP:0010978
27 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
28 multicystic kidney dysplasia 56 32 Occasional (29-5%) HP:0000003
29 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
30 renal hypoplasia/aplasia 56 32 Occasional (29-5%) HP:0008678
31 hypoplasia of the ear cartilage 56 32 Very frequent (99-80%) HP:0100720
32 upslanted palpebral fissure 56 32 Very frequent (99-80%) HP:0000582
33 bilateral single transverse palmar creases 56 32 Frequent (79-30%) HP:0007598
34 polyhydramnios 56 32 Occasional (29-5%) HP:0001561
35 hand polydactyly 56 32 Occasional (29-5%) HP:0001161
36 abnormal hair pattern 56 32 Occasional (29-5%) HP:0010720
37 sacral dimple 56 32 Frequent (79-30%) HP:0000960
38 failure to thrive in infancy 56 32 Frequent (79-30%) HP:0001531
39 redundant skin 56 32 Frequent (79-30%) HP:0001582
40 female pseudohermaphroditism 56 32 Very frequent (99-80%) HP:0010458
41 thin vermilion border 56 32 Frequent (79-30%) HP:0000233
42 toe syndactyly 56 32 Occasional (29-5%) HP:0001770
43 aplasia/hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0007370
44 talipes 56 32 Frequent (79-30%) HP:0001883
45 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
46 omphalocele 56 32 Occasional (29-5%) HP:0001539
47 trigonocephaly 56 32 Very frequent (99-80%) HP:0000243
48 abnormality of the anus 56 32 Frequent (79-30%) HP:0004378
49 accessory oral frenulum 56 32 Frequent (79-30%) HP:0000191
50 dislocated radial head 56 32 Frequent (79-30%) HP:0003083

UMLS symptoms related to C Syndrome:


seizures

Drugs & Therapeutics for C Syndrome

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

(show top 50) (show all 1434)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Orlistat Approved, Investigational Phase 4,Phase 2 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
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 111025-46-8 4829
10
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
11
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 73590-58-6 4594
12
Pantoprazole Approved Phase 4 102625-70-7 4679
13
Cyproterone Acetate Approved, Investigational Phase 4,Early Phase 1 427-51-0
14
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 1,Early Phase 1 57-63-6 5991
15
Acetylcysteine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 616-91-1 12035
16
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
17
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
18
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154598-52-4 64139
19
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 134678-17-4 60825
20
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 192725-17-0 92727
21
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 155213-67-5 392622
22
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 30516-87-1 35370
23
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-78-2 2244
24
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
25
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
26
Losartan Approved Phase 4,Phase 3,Phase 1,Early Phase 1 114798-26-4 3961
27
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
28
Spironolactone Approved Phase 4,Phase 2,Phase 1,Early Phase 1 1952-01-7, 52-01-7 5833
29
Esomeprazole Approved, Investigational Phase 4,Phase 3,Phase 1 161796-78-7, 119141-88-7 4594 9579578
30
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
31 Beractant Approved Phase 4,Phase 2,Phase 3 108778-82-1
32
Budesonide Approved Phase 4 51333-22-3 63006 5281004
33
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
34
Propafenone Approved Phase 4 54063-53-5 4932
35
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
36
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
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
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
42
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
43
Midazolam Approved, Illicit Phase 4,Phase 2,Phase 3,Phase 1 59467-70-8 4192
44
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1 57-27-2 5288826
45
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129722-12-9 60795
46
Cobicistat Approved Phase 4,Phase 3,Phase 2,Phase 1 1004316-88-4
47
Darunavir Approved Phase 4,Phase 3,Phase 2,Phase 1 635728-49-3, 206361-99-1 213039
48
Rilpivirine Approved Phase 4,Phase 3,Phase 2,Phase 1 500287-72-9
49
Erythromycin Approved, Vet_approved Phase 4 114-07-8 12560
50
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 52485-79-7 40400 644073

Interventional clinical trials:

(show top 50) (show all 4518)
id Name Status NCT ID Phase
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
2 Increasing Cure Rate of Hepatitis C Therapy in Obese Hepatitis C Patients Unknown status NCT00871845 Phase 4
3 Optical Coherence Tomography: Glatiramer in Clinically Isolated Syndrome or Early Relapsing Remitting Multiple Sclerosis (MS) Unknown status NCT00910598 Phase 4
4 Effects of the Ivabradine on Reduction of Inflammatory Markers in Patients With Acute Coronary Syndrome Unknown status NCT00815100 Phase 4
5 Platelet Resistance With Ticagrelor or Standard-Dose Clopidogrel Among CKD and ACS Patients Unknown status NCT02459288 Phase 4
6 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
7 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Unknown status NCT00598585 Phase 4
8 Telmisartan Versus Ramipril After Acute Coronary Syndrome Unknown status NCT00702936 Phase 4
9 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
10 Effect of Pentoxifylline on Tight Junctions (TJs) of Intestinal Mucosa in Patients With Irritable Bowel Syndrome(IBS) Unknown status NCT01542268 Phase 4
11 Pioglitazone Vs Placebo in Combination With Niacin Extended Release on Low HDL Unknown status NCT00300365 Phase 4
12 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
13 Efficacy and Safety of Lobeglitazone Versus Sitagliptin Unknown status NCT02480465 Phase 4
14 "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
15 The ACT-OUT Trial: ACTivity OUTcomes Based on High Carbohydrate or High Fat Diet in Metabolic Syndrome Unknown status NCT01357382 Phase 4
16 The Effect of Weight Loss on Anti-Müllerian Hormone Levels in Women With Polycystic Ovary Syndrome (PCOS) Unknown status NCT01475019 Phase 4
17 Manipulation of Visceral Sensitivity and Immune System in IBS Unknown status NCT00418340 Phase 4
18 Effects and Plasma Concentration of Ticagrelor, After Crushed and Non-crushed Intake, After Acute Coronary Syndrome Unknown status NCT02341729 Phase 4
19 PCOS, Therapy and Markers of Cardiovascular Risk Unknown status NCT01798875 Phase 4
20 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
21 Effect of Intravenous Acetadote on Incidence of Contrast Induced Nephropathy Unknown status NCT00939913 Phase 4
22 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
23 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
24 Strategies for Ovulation Induction in Anovulatory Infertile Patients With PCOS Unknown status NCT00461643 Phase 4
25 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4
26 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4
27 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
28 Trial of Supplementation With Aged Garlic Extract to Improve Endothelial Function in Patients With Metabolic Syndrome Unknown status NCT01168700 Phase 4
29 Hormones Inflammation and Thrombosis Unknown status NCT01875185 Phase 4
30 Changes in Endothelial Function and Biomarkers in African Americans (AA) With Metabolic Syndrome Unknown status NCT01271374 Phase 4
31 Gastric Functions & Proton Pump Inhibitor( PPI) Study Unknown status NCT00951431 Phase 4
32 Validation of DaTscan for Detection of Parkinson Disease Related Disorders Unknown status NCT02138682 Phase 4
33 Ranolazine, Ethnicity and the Metabolic Syndrome Unknown status NCT01304095 Phase 4
34 Curcumin for Type 2 Diabetic Patients Unknown status NCT01052597 Phase 4
35 Participation and Detection Rate Diagnostic of a Colorectal Cancer Screening Program: CT Colonography vs. Flexible Sigmoidoscopy Unknown status NCT01739608 Phase 4
36 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4
37 The Incidence and Treatment of Insulin Resistance Among Men With Erectile Dysfunction Unknown status NCT00284960 Phase 4
38 Cost-effectiveness of Genotype Guided Treatment With Antiplatelet Drugs in STEMI Patients: Optimization of Treatment Unknown status NCT01761786 Phase 4
39 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
40 Antiarrhythmic Drugs Assessment in Preventing Atrial Fibrillation Unknown status NCT02145546 Phase 4
41 Korean AMADEUS Study Unknown status NCT01239849 Phase 4
42 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4
43 A Trial to Study the Effect of Long Term Vitamin D Supplementation on Insulin Sensitivity Unknown status NCT01052181 Phase 4
44 Efficacy of FreshKote and Systane for the Treatment of Dry Eye and Improvement of Osmolarity Unknown status NCT01386073 Phase 4
45 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4
46 Safety and Efficacy Study Comparing Raltegravir to a Protease Inhibitor in Treatment-naïve, HIV/Hepatitis C Drug Users Unknown status NCT01105611 Phase 4
47 Efficacy of PTX+IFN Alpha+ RBV on Hepatitis C Virus Coinfected HIV Patients Unknown status NCT02008214 Phase 4
48 Clopidogrel Reloading in Patients With NSTEACS Undergoing Percutaneous Coronary Intervention on Chronic Clopidogrel Therapy Unknown status NCT01572129 Phase 4
49 Efficacy of Ticagrelor vs Clopidogrel in High-risk NSTE-ACS Patients Undergoing Early PCI Unknown status NCT02201667 Phase 4
50 Impact of Ticagrelor on the Endothelial Healing Following Drug-eluting Stent Implantation in the Patients With Acute Coronary Syndrome Unknown status NCT02037412 Phase 4

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
Skin, Bone, Eye, Kidney, Heart

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:

66
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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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