CSYN
MCID: CSY001
MIFTS: 61

C Syndrome (CSYN)

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

Aliases & Classifications for C Syndrome

MalaCards integrated aliases for C Syndrome:

Name: C Syndrome 57 12 73 20 58 72 36 29 13 6 15 39
Opitz Trigonocephaly Syndrome 57 12 20 58 72 44
Trigonocephaly 73 36 29 54 6
Trigonocephaly C Syndrome 12 20 58
Trigonocephaly Syndrome 57 20 72
Opitz Trigonocephaly C Syndrome 12 58
Opitz C Trigonocephaly 12 58
Otcs 12 58
Csyn 72

Characteristics:

Orphanet epidemiological data:

58
c syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
c syndrome:
Onset and clinical course death in infancy
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for C Syndrome

GARD : 20 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.

MalaCards based summary : C Syndrome, also known as opitz trigonocephaly syndrome, is related to mucopolysaccharidosis iii and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures An important gene associated with C Syndrome is CD96 (CD96 Molecule), and among its related pathways/superpathways are MAPK signaling pathway and Adherens junction. The drugs Ibuprofen and sodium fluoride have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and skin, and related phenotypes are intellectual disability and high palate

Disease Ontology : 12 A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has material basis in heterozygous mutation in CD96 on chromosome 3q13.1-q13.2.

OMIM® : 57 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) (Updated 05-Apr-2021)

KEGG : 36 Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.

UniProtKB/Swiss-Prot : 72 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 : 73 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... 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 209)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis iii 30.1 TFEB SMPD1 NPC2 NPC1 LIPA HGSNAT
2 mucopolysaccharidosis-plus syndrome 30.1 TFEB SMPD1 NPC2 NPC1 LIPA HGSNAT
3 trigonocephaly 2 11.6
4 trigonocephaly 1 11.5
5 trigonocephaly with short stature and developmental delay 11.5
6 cat eye syndrome 11.2
7 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.2
8 trigonocephaly-broad thumbs syndrome 11.0
9 jacobsen syndrome 11.0
10 chromosome 3pter-p25 deletion syndrome 11.0
11 congenital disorder of glycosylation, type iu 11.0
12 sandestig-stefanova syndrome 11.0
13 ben ari shuper mimouni syndrome 11.0
14 bohring-opitz syndrome 11.0
15 isolated trigonocephaly 11.0
16 chromosome 9p deletion syndrome 10.9
17 baraitser-winter syndrome 10.9
18 opitz gbbb syndrome, type i 10.9
19 lowry-maclean syndrome 10.9
20 orofaciodigital syndrome xiv 10.9
21 niemann-pick disease type c, juvenile neurologic onset 10.5 NPC2 NPC1
22 niemann-pick disease type c, adult neurologic onset 10.4 NPC2 NPC1
23 niemann-pick disease type c, severe early infantile neurologic onset 10.4 NPC2 NPC1
24 niemann-pick disease type c, late infantile neurologic onset 10.4 NPC2 NPC1
25 niemann-pick disease type c, severe perinatal form 10.4 NPC2 NPC1
26 acid sphingomyelinase deficiency 10.4 SMPD1 NPC1
27 cerebral lipidosis 10.4 UGCG SMPD1 NPC1
28 niemann-pick disease, type c2 10.4 SMPD1 NPC2 NPC1
29 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 10.4 RAB7B RAB7A
30 malignant pineal area germ cell neoplasm 10.4 NPC2 AFP
31 gm1-gangliosidosis, type i 10.4 SMPD1 NPC2 NPC1
32 farber lipogranulomatosis 10.4 UGCG SMPD1 NPC1
33 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 10.4 FGFR1 CD4
34 anti-basement membrane glomerulonephritis 10.4 CFHR2 CD4
35 scheie syndrome 10.4 NPC2 NPC1 HGSNAT
36 mucolipidosis iv 10.3 TFEB NPC2 NPC1
37 leukodystrophy, hypomyelinating, 12 10.3 RAB7B RAB7A
38 sandhoff disease 10.3 UGCG SMPD1 NPC2 NPC1
39 mucopolysaccharidosis iv 10.3 SMPD1 LIPA HGSNAT
40 gm2 gangliosidosis 10.3 UGCG SMPD1 NPC2 NPC1
41 metachromatic leukodystrophy 10.3 SMPD1 NPC2 NPC1
42 gm1 gangliosidosis 10.3 UGCG SMPD1 NPC2 NPC1
43 krabbe disease 10.3 UGCG SMPD1 NPC2 NPC1
44 niemann-pick disease, type b 10.3 SMPD1 NPC2 NPC1 LIPA
45 neuropathy, hereditary sensory, type id 10.3 RAB7B RAB7A
46 niemann-pick disease, type a 10.3 SMPD1 NPC2 NPC1 LIPA
47 cholesterol ester storage disease 10.3 TFEB LIPA
48 ceroid lipofuscinosis, neuronal, 3 10.3 TFEB SMPD1 NPC2 NPC1
49 mucolipidosis 10.3 TFEB SMPD1 NPC2 NPC1
50 hepatocellular clear cell carcinoma 10.3 FGFR1 AFP

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



Diseases related to C Syndrome

Symptoms & Phenotypes for C Syndrome

Human phenotypes related to C Syndrome:

58 31 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
6 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
8 smooth philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000319
9 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
10 biparietal narrowing 58 31 hallmark (90%) Very frequent (99-80%) HP:0004422
11 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
12 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
13 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
14 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
15 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
16 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
17 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
18 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
19 hypoplasia of the ear cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100720
20 female pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0010458
21 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
22 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
23 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
24 pectus excavatum 58 31 frequent (33%) Frequent (79-30%) HP:0000767
25 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
26 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
27 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
28 sacral dimple 58 31 frequent (33%) Frequent (79-30%) HP:0000960
29 redundant skin 58 31 frequent (33%) Frequent (79-30%) HP:0001582
30 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
31 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
32 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
33 abnormality of the anus 58 31 frequent (33%) Frequent (79-30%) HP:0004378
34 dislocated radial head 58 31 frequent (33%) Frequent (79-30%) HP:0003083
35 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
36 midline facial capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0007601
37 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
38 seizure 31 frequent (33%) HP:0001250
39 hypotonia 31 frequent (33%) HP:0001252
40 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
41 aplasia/hypoplasia of the abdominal wall musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0010318
42 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
43 horseshoe kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000085
44 renal hypoplasia/aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008678
45 polyhydramnios 58 31 occasional (7.5%) Occasional (29-5%) HP:0001561
46 hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001161
47 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
48 multicystic kidney dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000003
49 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
50 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
psychomotor retardation
hypotonia

Skeletal Spine:
scoliosis

Skeletal:
delayed skeletal maturation

Head And Neck Head:
microcephaly
trigonocephaly

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

Head And Neck Face:
micrognathia

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
ventricular septal defect

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

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

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

Genitourinary External Genitalia Female:
prominent clitoris

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

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

Growth Height:
short stature

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Skeletal Pelvis:
hip dislocation

Abdomen External Features:
omphalocele

Skeletal Feet:
syndactyly
postaxial polydactyly
terminal transverse limb reduction

Genitourinary Kidneys:
renal cortical cysts

Skeletal Limbs:
radial head dislocation
short limbs

Skin Nails Hair Skin:
skin laxity

Clinical features from OMIM®:

211750 (Updated 05-Apr-2021)

UMLS symptoms related to C Syndrome:


seizures

GenomeRNAi Phenotypes related to C Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HPV16-GFP infection GR00350-A 8.8 AFP CD96 NPC2

MGI Mouse Phenotypes related to C Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 ABCA1 AFP CD4 CD96 CPB1 FGFR1
2 cellular MP:0005384 10.23 ABCA1 CD4 FGFR1 HGSNAT IFT140 LIPA
3 hematopoietic system MP:0005397 10.21 ABCA1 CD4 CD96 CPB1 FGFR1 HGSNAT
4 immune system MP:0005387 10.15 ABCA1 CD4 CD96 FGFR1 HGSNAT IFT140
5 mortality/aging MP:0010768 10.1 ABCA1 AFP CD4 FGFR1 HGSNAT IFT140
6 nervous system MP:0003631 9.9 ABCA1 CD4 FGFR1 HGSNAT IFT140 LIPA
7 liver/biliary system MP:0005370 9.87 ABCA1 AFP HGSNAT LIPA NPC1 NPC2
8 renal/urinary system MP:0005367 9.5 ABCA1 FGFR1 HGSNAT IFT140 LIPA MMACHC
9 respiratory system MP:0005388 9.23 ABCA1 HGSNAT IFT140 LIPA MMACHC NPC1

Drugs & Therapeutics for C Syndrome

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

(show top 50) (show all 157)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4 15687-27-1 3672
2
sodium fluoride Approved Phase 4 7681-49-4
3
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
4
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
5
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
6
Nicotine Approved Phase 4 54-11-5 942 89594
7
Acetaminophen Approved Phase 4 103-90-2 1983
8
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
9
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
10
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
11 Fluorides Phase 4
12 Anti-Infective Agents Phase 4
13 Listerine Phase 4
14 Gastrointestinal Agents Phase 4
15 Anti-Ulcer Agents Phase 4
16 Antacids Phase 4
17 Proton Pump Inhibitors Phase 4
18 Anti-Infective Agents, Local Phase 4
19 Omeprazole, sodium bicarbonate drug combination Phase 4
20 Protective Agents Phase 4
21 Fluorides, Topical Phase 4
22 Analgesics, Non-Narcotic Phase 4
23 Analgesics Phase 4
24 Antirheumatic Agents Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Anti-Inflammatory Agents, Non-Steroidal Phase 4
27 Neurotransmitter Agents Phase 4
28 Cyclooxygenase Inhibitors Phase 4
29 Narcotics Phase 4
30 Analgesics, Opioid Phase 4
31 Antipyretics Phase 4
32 Cholinergic Agents Phase 4
33 Nicotinic Agonists Phase 4
34
Lovastatin Approved, Investigational Phase 3 75330-75-5 53232
35
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
36
Tamsulosin Approved, Investigational Phase 3 106133-20-4 129211
37
Promethazine Approved, Investigational Phase 3 60-87-7 4927
38
Diphenhydramine Approved, Investigational Phase 3 58-73-1, 147-24-0 3100
39
Desonide Approved, Investigational Phase 3 638-94-8 5311066
40
Norgestrel Approved Phase 3 6533-00-2 13109
41 Dihydromevinolin Phase 3
42 Antimetabolites Phase 3
43 Anticholesteremic Agents Phase 3
44 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
45 Lipid Regulating Agents Phase 3
46 L 647318 Phase 3
47 Hypolipidemic Agents Phase 3
48 Adrenergic Agents Phase 3
49 Anticonvulsants Phase 3
50 Psychotropic Drugs Phase 3

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Evaluation of Provase in the Post Burn Rehabilitation Population for Itch Control and Moisturization Properties Completed NCT00782054 Phase 4
2 A Study to Investigate the Gastrointestinal Safety of OTC Analgesics in Healthy Volunteers by Endoscopic Examination Completed NCT01822665 Phase 4 Ibuprofen;Paracetamol
3 Comparison of Prilosec OTC® Versus Prevacid ® for Gastric Acid Suppression Completed NCT00903448 Phase 4 Prilosec OTC (omeprazole-magnesium);Prevacid
4 Comparison of Prilosec OTC® Versus Zegerid® for Gastric Acid Suppression Completed NCT00808769 Phase 4 Zegerid®;Prilosec OTC®
5 MI Varnish and MI Paste Plus in a Caries Prevention and Remineralization Study Completed NCT02424097 Phase 4 CPP-ACP 5% sodium fluoride varnish & 900ppm fluoride paste;1,100pm F-toothpaste and 0.5%NaF rinse
6 Demonstration of OTC Naproxen Sodium's (Aleve's) Anti-inflammatory Action in Dental Implant Surgery Patients Recruiting NCT04694300 Phase 4 Naproxen;Acetaminophen;Tramadol
7 Varenicline OTC Trial on Efficacy and Safety Recruiting NCT03557294 Phase 4 1.0mg Varenicline b.i.d.;0.5mg Varenicline b.i.d.;0.0mg placebo Varenicline b.i.d.
8 A Consumer Use Study of OTC Lovastatin (CUSTOM): A 6-Month Consumer Behavior Study of the Lovastatin OTC Self-Management System Completed NCT00092846 Phase 3 MK0803, lovastatin
9 A 3-Month, Open-Label, Pharmacy-Based, Actual-Use Trial in a Simulated Over-The-Counter (OTC) Environment to Assess Self-Selection and Consumer Use Patterns of Gabapentin 250 mg for Occasional Sleeplessness Completed NCT00659100 Phase 3 Gabapentin
10 A Multi-Center, Open-Label Trial Investigating Behavior Related to Ella® Use in a Simulated OTC Environment (LIBRella) Completed NCT03208985 Phase 3 Use Phase (Ulipristal Acetate, 30 mg)
11 A Single-Center, Randomized, Controlled Study to Evaluate the Efficacy of Two Investigational OTC Eye Drops in Healthy Adults With Red Eye Completed NCT03198000 Phase 3 F# 13418-148 Eye Drops;F#13418-158 Eye Drops;F# PF-004390 Eye Drops
12 An Actual Use Trial In A Simulated OTC Environment of an Extended-Release Over-the-Counter NSAID Completed NCT01427803 Phase 3 Naproxen Sodium ER (BAYH6689)
13 A 6-month OTC-simulated, Open Label, Uncontrolled Study of Tamsulosin 0.4 mg in Men Completed NCT02573311 Phase 3 tamsulosin hydrochloride
14 A Multicenter, Randomized, Double-Blind, Placebo Controlled, Parallel Group Safety and Tolerability Trial of Naproxen Sodium/ Diphenhydramine Combination in an OTC Population Completed NCT01365052 Phase 3 Naproxen sodium 440 mg/DPH 50 mg (BAY98-7111);Placebo
15 Randomized, Crossover Pharmacodynamic Study Comparing the Effects of Zegerid® (20 mg Omeprazole/Sodium Bicarbonate) and Prilosec OTC® Tablets (20 Mg-equivalent Omeprazole) Completed NCT00765206 Phase 3 Omeprazole/sodium bicarbonate;omeprazole magnesium (20 mg equivalent)
16 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Actual Use Study of the Safety and Tolerability of Gabapentin 500 mg in a Potential OTC Population Completed NCT00666575 Phase 3 Gabapentin;Placebo
17 Randomized, Crossover Pharmacodynamic Study Comparing the Effects of Zegerid® (20 mg Omeprazole/Sodium Bicarbonate) and Prilosec OTC® (20 Mg-equivalent Omeprazole) Completed NCT00674115 Phase 3 Omeprazole/sodium bicarbonate;omeprazole magnesium;sodium bicarbonate
18 Randomized, Placebo-Controlled, Crossover Pharmacodynamic Study Comparing the Effects of Two Different Forms of Omeprazole Completed NCT01077076 Phase 3 Zegerid;Prilosec OTC™ Tablets
19 In-Home Study of Intraoral Device for Reducing Snoring Among Habitual Snorers Completed NCT03128307 Phase 3
20 8-Week Atopic Dermatitis (AD) Treatment Study Completed NCT03386032 Phase 3 Investigational OTC Cream;0.05% Desonide
21 A Multi-Center Oral Contraceptive Pill Use Trial Conducted In an OTC Naturalistic Environment (OPTION) Terminated NCT03559010 Phase 3 Norgestrel 0.075 mg tablets
22 A Double-blind, Placebo-controlled, Randomized, Parallel Group Study of the Efficacy and Safety of Oral Doses of 20 mg Hyoscine Butylbromide When Used On-demand up to 7 Episodes Over a Period of 6 Weeks for the Treatment of Occasional Episodes of Self-reported Abdominal Pain, Cramping, and Discomfort Associated With Cramping in an OTC-like Study Population Completed NCT02242292 Phase 2 Hyoscine butylbromide;Placebo
23 A Prospective, Single Center, Open, Equivalence, Two Phase Study Comparing the Sleep Strip OTC™ Accuracy in Screening for Sleep Apnea Syndrome Against the Reference Method, an In-lab Full Night Polysomnographic (PSG) Study. Completed NCT00942669 Phase 1, Phase 2
24 A Phase 2, Open-Label, Switch-Over, Dose-Escalation Study of the Safety and Tolerability of HPN-100 Compared to Buphenyl® (Sodium Phenylbutyrate) in Patients With Urea Cycle Disorders Completed NCT00551200 Phase 2 HPN-100;BUPHENYL®
25 A Pilot RCT on the Effect of Resveratrol on Mood, Memory Deficits, Hippocampal Inflammation and Neurogenesis in Veterans With Gulf War Illness Recruiting NCT03665740 Phase 2 Resveratrol
26 A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency Active, not recruiting NCT02991144 Phase 1, Phase 2 Oral prednisone
27 Clinical Effectiveness of Next Science Oral Rinse in Controlling Plaques and Gingival Inflammation Completed NCT03154021 Phase 1
28 A Phase I, Open-Label, Randomized, Four Period Crossover Drug Interaction Study to Evaluate the Pharmacokinetic Profiles of VYVANSE™ and ADDERALL XR When Each is Administered Alone and in Combination With the Proton Pump Inhibitor Prilosec OTC™ in Healthy Adult Volunteers Completed NCT00746733 Phase 1 Lisdexamfetamine Dimesylate;Adderall XR (mixed salts amphetamine)
29 A Phase 1 Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Healthy Adult Subjects Completed NCT04416126 Phase 1
30 Study to Evaluate the Effect of Efavirenz Coadministration on the Pharmacokinetics of the Active Moieties of a Combined Oral Contraceptive Containing Ethinyl Estradiol and Norgestimate in Healthy Female Subjects Completed NCT00399685 Phase 1 Ortho Tri-Cyclen LO;Ortho Cyclen;Ortho Cyclen + Efavirenz;Ortho Cyclen
31 A Phase 1b Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Clinically Stable Patients With Ornithine Transcarbamylase Deficiency Recruiting NCT04442347 Phase 1
32 "A Comparison Study of the WaterWorks® Douching Device vs. Commercial OTC Douching Device for the Reduction or Abatement of Perceived Vaginal Odor With or Without Complaints of Discharge in Women With no Infectious Causes of Vaginitis" Unknown status NCT00417365
33 Efficacy of Tobacco Cessation for Improving Oral Diseases - Multicenter Prospective Trial Unknown status NCT02737176
34 Effectiveness and Cost-effectiveness of the Application of an Electronic Medication Management Support System in Patients With Polypharmacy in General Practice (AdAM). Unknown status NCT03430336
35 CAMBRA - PBRN Caries Management By Risk Assessment In A Practice-Based Research Network Completed NCT01176396
36 A Prospective,Randomized,Masked,Study to Evaluate the Interaction of Non-Steroidal Anti-Inflammatory Agent With IOP-Lowering Effect of Brimonidine or Latanoprost. Completed NCT00402493 ibuprofen, latanoprost, brimonidine;Ibuprofen, brimonidine, latanoprost;Ibuprofen
37 Developing Genetic Education for Smoking Cessation Completed NCT01186016
38 Induced Gingivitis & Intra-oral Imaging Completed NCT03750955
39 A Non-interventional, Non-controlled, Post-marketing Study to Obtain Knowledge of the Safety of ZyComb® (Xylometazoline Hydrochloride 0.5 mg/mL and Ipratropium Bromide 0.6 mg/mL) for Symptoms of Common Cold in a Real-life OTC Setting Completed NCT00480194 xylometazoline hydrochloride and ipratropium bromide (ZyComb)
40 A Single-Center Study Evaluating the Safety of a New Preservative in an OTC Lubricant Eye Drop Used QID in Healthy Adults and in Subjects Diagnosed With Dry Eye Completed NCT01434277
41 Usage Patterns of OTC Nicotine Patches: Consumer Survey Completed NCT00134927
42 The Stork™ Conception System (OTC) Clinical Trial: Semen Collection, Placement and Delivery Completed NCT02038322
43 A Multi-Center, Open-Label, All-Comers, Single Group Observational Study to Investigate Use Patterns and Safety in Simulated Actual Over-the-counter (OTC )Use of Rabeprazole Sodium for the Treatment of Heartburn Symptoms Completed NCT01286194 Rabeprazole sodium
44 Residence Time Evaluation of Marketed OTC Ophthalmic Products Completed NCT00804791
45 Efficacy of Lidocaine and Xylometazoline Intranasal Spray in Anesthetizing Maxillary Teeth: An Open Label Randomized Controlled Trial Completed NCT04732104 Early Phase 1 Lidocaine topical;Lidocaine Hydrochloride
46 Reduction of Staph Aureus Carriage by Non-Antibiotic NOZIN® Nasal Sanitizer® Completed NCT01861457
47 A Single Center, Clinical Study to Determine the Safety and Efficacy of an Avena Sativa Skincare Regimen for Therapy-Related Pruritus and Xerosis in Cancer Patients Completed NCT03796052
48 Preventive Treatment Approach of Early Caries Lesions With Contemporary Methods of Remineralization Completed NCT03780270
49 A Multi-Center, Controlled Clinical Trial to Assess the Effects of Topical Lotions on Changes in the Skin Microbiome and Associations With Itch Completed NCT03673059 OTC Eczema Moisturizer Regimen
50 Ceramide Containing Multivesicular Emulsion Application as a Skin Hydration Treatment for Feet of Subjects With Non-insulin Dependent Diabetes Mellitus. Completed NCT00947726 CeraVe

Search NIH Clinical Center for C Syndrome

Cochrane evidence based reviews: opitz trigonocephaly syndrome

Genetic Tests for C Syndrome

Genetic tests related to C Syndrome:

# Genetic test Affiliating Genes
1 C Syndrome 29 CD96
2 Trigonocephaly 29

Anatomical Context for C Syndrome

MalaCards organs/tissues related to C Syndrome:

40
Eye, Kidney, Skin, Heart, Brain, Endothelial

Publications for C Syndrome

Articles related to C Syndrome:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. 61 57 6
17847009 2007
2
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1). 57 61
16835930 2006
3
Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome. 57 61
11038445 2000
4
Severe end of Opitz trigonocephaly (C) syndrome or new syndrome? 61 57
10405439 1999
5
Probable Opitz trigonocephaly C syndrome with medulloblastoma. 57 61
9098489 1997
6
Opitz-C syndrome: on the nosology of mental retardation and trigonocephaly. 61 57
1472356 1992
7
Opitz trigonocephaly syndrome. 61 57
1746609 1991
8
"C" trigonocephaly syndrome: clinical variability and possibility of surgical treatment. 61 57
2260586 1990
9
C syndrome with apparently normal development. 61 57
2260587 1990
10
Opitz C syndrome and pseudohypoaldosteronism. 61 57
2175542 1990
11
Trigonocephaly and the Opitz C syndrome. 61 57
3981579 1985
12
Optiz trigonocephaly syndrome: report of two cases. 57 61
6698065 1984
13
Further delineation of the C (trigonocephaly) syndrome. 61 57
7258228 1981
14
The Opitz trigonocephaly syndrome. A case report. 61 57
1190170 1975
15
A Japanese boy with apparent Bohring-Opitz or "C-like" syndrome. 57
16528754 2006
16
"C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. 57
7625448 1995
17
"C" trigonocephaly syndrome with diaphragmnatic hernia. 57
7546453 1995
18
"C" trigonocephaly syndrome: two additional cases. 57
2260588 1990
19
Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development. 61
32121121 2020
20
Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome. 61
31731183 2019
21
A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 61
29330474 2018
22
Bohring-opitz syndrome - A case of a rare genetic disorder. 61
28889139 2017
23
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy. 61
27874174 2017
24
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes. 61
28281571 2017
25
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. 61
26768331 2016
26
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks. 61
26411903 2015
27
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome. 61
26347037 2015
28
Genes associated with low serum high-density lipoprotein cholesterol. 61
24916532 2014
29
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 61
23301227 2013
30
Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome. 61
24255872 2013
31
Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case report. 61
21689463 2011
32
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 61
20583299 2010
33
Atrioventricular block and diastolic dysfunction in a patient with Sanfilippo C. 61
21048366 2010
34
"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion. 61
19449408 2009
35
Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. 61
18058159 2008
36
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 61
18024218 2008
37
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007
38
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 61
17397050 2007
39
Interdisciplinary rehabilitation of a patient with Opitz C-syndrome and extensive craniofacial malformation. 61
17414277 2007
40
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 61
17033958 2006
41
Mortality and pathological findings in C (Opitz trigonocephaly) syndrome. 61
17162528 2006
42
Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients. 54
16526918 2006
43
A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. 61
15389716 2004
44
Partial trisomy 13 with features similar to C syndrome. 61
15235171 2004
45
Opitz trigonocephaly C syndrome associated with hearing loss. 61
14651551 2003
46
Managing occupational risks for hepatitis C transmission in the health care setting. 61
12857782 2003
47
[C syndrome]. 61
11462451 2001
48
Severe end of Opitz trigonocephaly C syndrome. 61
10861669 2000
49
The tetraspanin CD63/lamp3 cycles between endocytic and secretory compartments in human endothelial cells. 61
10793155 2000
50
[Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome]. 61
10719681 2000

Variations for C Syndrome

ClinVar genetic disease variations for C Syndrome:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD96 CD96, EXONIC BREAKPOINT Variation Pathogenic 4639 GRCh37:
GRCh38:
2 CD96 NM_005816.5(CD96):c.791C>T (p.Thr264Met) SNV Pathogenic 4640 rs119477056 GRCh37: 3:111304209-111304209
GRCh38: 3:111585362-111585362
3 CD96 , ZBED2 NM_005816.5(CD96):c.808-4525G>A SNV Pathogenic 1032591 GRCh37: 3:111312442-111312442
GRCh38: 3:111593595-111593595
4 overlap with 54 genes GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Pathogenic 1047891 GRCh37: 9:204193-18654812
GRCh38:
5 CD96 NM_005816.5(CD96):c.54dup (p.Val19fs) Duplication Conflicting interpretations of pathogenicity 225311 rs200703204 GRCh37: 3:111261145-111261146
GRCh38: 3:111542298-111542299
6 CD96 NM_005816.5(CD96):c.1390A>G (p.Asn464Asp) SNV Uncertain significance 1028426 GRCh37: 3:111356928-111356928
GRCh38: 3:111638081-111638081
7 CD96 NM_005816.5(CD96):c.1618C>T (p.Pro540Ser) SNV Uncertain significance 1028427 GRCh37: 3:111368561-111368561
GRCh38: 3:111649714-111649714
8 CD96 NM_005816.5(CD96):c.794A>G (p.Asp265Gly) SNV Uncertain significance 1028428 GRCh37: 3:111304212-111304212
GRCh38: 3:111585365-111585365
9 CD96 NM_005816.5(CD96):c.718dup (p.Ile240fs) Duplication Uncertain significance 816889 rs766366613 GRCh37: 3:111298044-111298045
GRCh38: 3:111579197-111579198
10 FREM1 NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys) SNV Uncertain significance 992743 GRCh37: 9:14848692-14848692
GRCh38: 9:14848694-14848694
11 CD96 NM_005816.5(CD96):c.*844A>G SNV Uncertain significance 342565 rs886057776 GRCh37: 3:111369497-111369497
GRCh38: 3:111650650-111650650
12 CD96 NM_005816.5(CD96):c.*2093_*2097del Deletion Uncertain significance 342585 rs771511889 GRCh37: 3:111370743-111370747
GRCh38: 3:111651896-111651900
13 CD96 NM_005816.5(CD96):c.*1364G>A SNV Uncertain significance 342571 rs368097665 GRCh37: 3:111370017-111370017
GRCh38: 3:111651170-111651170
14 CD96 NM_005816.5(CD96):c.*2076del Deletion Uncertain significance 342583 rs886057782 GRCh37: 3:111370729-111370729
GRCh38: 3:111651882-111651882
15 CD96 NM_005816.5(CD96):c.*2094del Deletion Uncertain significance 342589 rs886057786 GRCh37: 3:111370747-111370747
GRCh38: 3:111651900-111651900
16 CD96 NM_005816.5(CD96):c.*2092_*2093insGAA Insertion Uncertain significance 342586 rs557338377 GRCh37: 3:111370743-111370744
GRCh38: 3:111651896-111651897
17 CD96 NM_005816.5(CD96):c.*172G>T SNV Uncertain significance 342552 rs886057770 GRCh37: 3:111368825-111368825
GRCh38: 3:111649978-111649978
18 CD96 NM_005816.5(CD96):c.*2092_*2093insGAAAGAA Insertion Uncertain significance 342587 rs557338377 GRCh37: 3:111370743-111370744
GRCh38: 3:111651896-111651897
19 CD96 NM_005816.5(CD96):c.*869G>C SNV Likely benign 342566 rs566078679 GRCh37: 3:111369522-111369522
GRCh38: 3:111650675-111650675
20 CD96 NM_005816.5(CD96):c.*2093del Deletion Benign 342584 rs200341777 GRCh37: 3:111370731-111370731
GRCh38: 3:111651884-111651884

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

72
# Symbol AA change Variation ID SNP ID
1 CD96 p.Thr280Met VAR_037578 rs119477056

Expression for C Syndrome

Search GEO for disease gene expression data for C Syndrome.

Pathways for C Syndrome

Pathways related to C Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 MAPK signaling pathway hsa04010
2 Adherens junction hsa04520
3 Regulation of actin cytoskeleton hsa04810

GO Terms for C Syndrome

Cellular components related to C Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.56 TFEB RAB7A NPC1 HGSNAT
2 late endosome membrane GO:0031902 9.5 RAB7B RAB7A NPC1
3 lysosomal lumen GO:0043202 9.33 SMPD1 NPC2 LIPA
4 lysosome GO:0005764 9.23 TFEB SMPD1 RAB7B RAB7A NPC2 NPC1
5 phagocytic vesicle GO:0045335 9.13 RAB7B RAB7A ABCA1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 UGCG RAB7A NPC2 NPC1 LIPA ABCA1
2 steroid metabolic process GO:0008202 9.71 NPC2 NPC1 ABCA1
3 cholesterol homeostasis GO:0042632 9.67 NPC2 NPC1 ABCA1
4 lipid transport GO:0006869 9.67 OSBP NPC2 NPC1 ABCA1
5 cholesterol metabolic process GO:0008203 9.62 SMPD1 NPC2 NPC1 ABCA1
6 intermembrane lipid transfer GO:0120009 9.61 OSBP NPC2 ABCA1
7 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.55 NPC1 ABCA1
8 sterol transport GO:0015918 9.52 OSBP NPC2
9 lysosomal transport GO:0007041 9.51 NPC1 HGSNAT
10 protein lipidation GO:0006497 9.48 UGCG ABCA1
11 phagosome-lysosome fusion GO:0090385 9.46 RAB7B RAB7A
12 cholesterol efflux GO:0033344 9.43 NPC2 NPC1 ABCA1
13 low-density lipoprotein particle clearance GO:0034383 9.33 NPC2 NPC1 LIPA
14 cholesterol transport GO:0030301 9.13 NPC2 NPC1 ABCA1
15 intracellular cholesterol transport GO:0032367 8.92 OSBP NPC2 NPC1 ABCA1

Molecular functions related to C Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermembrane cholesterol transfer activity GO:0120020 9.26 NPC2 ABCA1
2 sterol binding GO:0032934 9.16 OSBP NPC2
3 sterol transporter activity GO:0015248 8.96 OSBP NPC1
4 cholesterol binding GO:0015485 8.8 NPC2 NPC1 ABCA1

Sources for C Syndrome

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