COH1
MCID: CHN016
MIFTS: 54

Cohen Syndrome (COH1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Cohen Syndrome

Aliases & Descriptions for Cohen Syndrome:

Name: Cohen Syndrome 54 23 50 24 25 66 29 13 52
Pepper Syndrome 50 25 66
Hypotonia, Obesity, and Prominent Incisors 50 25
Coh1 50 66
Prominent Incisors-Obesity-Hypotonia Syndrome 25
Hypotonia-Obesity-Prominent Incisors 66
Obesity-Hypotonia Syndrome 25
Stage 4s Neuroblastoma 69
Muscle Hypotonia 42
Norio Syndrome 25
Chs1 66

Characteristics:

HPO:

32
cohen syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 216550
MedGen 40 C0265223

Summaries for Cohen Syndrome

NIH Rare Diseases : 50 cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by dr. m.m. cohen, jr. when the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. since cohen syndrome was first described, over 100 cases have been reported worldwide. it is now known that the signs and symptoms present in people with cohen syndrome may vary considerably. although the exact cause of cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called coh1 (also referred to as vps13b). when cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. no cure is currently available; however, treatment for cohen syndrome is focused on improving or alleviating signs and symptoms as they arise. last updated: 3/21/2013

MalaCards based summary : Cohen Syndrome, also known as pepper syndrome, is related to camera marugo cohen syndrome and salt and pepper syndrome, and has symptoms including seizures, pectus excavatum and obesity. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and Cell adhesion molecules (CAMs). The drugs Citalopram and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin.

Genetics Home Reference : 25 Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features include progressive nearsightedness (myopia), degeneration of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. Characteristic facial features include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open-mouth appearance.

OMIM : 54 Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial... (216550) more...

UniProtKB/Swiss-Prot : 66 Cohen syndrome: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.

Wikipedia : 71 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William... more...

GeneReviews: NBK1482

Related Diseases for Cohen Syndrome

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

(show all 50)
id Related Disease Score Top Affiliating Genes
1 camera marugo cohen syndrome 11.9
2 salt and pepper syndrome 11.9
3 gay feinmesser cohen syndrome 11.8
4 richieri-costa guion-almeida cohen syndrome 11.7
5 hydrolethalus syndrome 11.4
6 amish infantile epilepsy syndrome 11.4
7 chediak-higashi syndrome 11.2
8 mental retardation, truncal obesity, retinal dystrophy, and micropenis 10.9
9 holoprosencephaly, semilobar, with craniosynostosis 10.9
10 deafness nephritis anorectal malformation 10.9
11 ehlers-danlos syndrome, type vi 10.7
12 pontocerebellar hypoplasia type 1a 10.5
13 canavan disease 10.5
14 mulibrey nanism 10.5
15 shprintzen-goldberg syndrome 10.5
16 arthrogryposis, mental retardation, and seizures 10.5
17 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.5
18 galactosemia 10.5
19 myopathy, myofibrillar, 6 10.1 INPP5E VPS13B
20 omsk hemorrhagic fever 10.0 ITGAM SELL
21 grix blankenship peterson syndrome 10.0 ITGAM SELL
22 perrault syndrome 9.9 ITGAM SELL
23 craniopharyngioma 9.9 ITGAM SELL
24 eating disorder 9.9 ITGAM SELL
25 xerophthalmia 9.9 ITGAM SELL
26 frontometaphyseal dysplasia 9.9
27 granulocytopenia 9.9
28 hypotonia 9.9
29 sporotrichosis 9.8
30 calpainopathy 9.8 ITGAM SELL
31 retinitis 9.8
32 periodontitis 9.8
33 neutropenia 9.8
34 obesity 9.8
35 microcephaly 9.8
36 acanthosis nigricans 9.6
37 prader-willi syndrome 9.6
38 chorioretinitis 9.6
39 polymicrogyria 9.6
40 rheumatoid arthritis 9.6
41 cerebellar hypoplasia 9.6
42 cutis verticis gyrata 9.6
43 arthritis 9.6
44 thrombocytopenia 9.6
45 asthma 9.6
46 growth hormone deficiency 9.6
47 myopia 9.6
48 synostosis 9.6
49 corneal ectasia 9.6
50 nablus mask-like facial syndrome 9.0 BAMBI COHEN1 COHEN2 INPP5E ITGAM SELL

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



Diseases related to Cohen Syndrome

Symptoms & Phenotypes for Cohen Syndrome

Symptoms by clinical synopsis from OMIM:

216550

Clinical features from OMIM:

216550

Human phenotypes related to Cohen Syndrome:

32 (show top 50) (show all 82)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 pectus excavatum 32 HP:0000767
3 obesity 32 HP:0001513
4 genu valgum 32 HP:0002857
5 finger syndactyly 32 HP:0006101
6 nystagmus 32 HP:0000639
7 intellectual disability 32 HP:0001249
8 muscular hypotonia 32 HP:0001252
9 neurological speech impairment 32 HP:0002167
10 scoliosis 32 HP:0002650
11 kyphosis 32 HP:0002808
12 gingival overgrowth 32 HP:0000212
13 global developmental delay 32 HP:0001263
14 pes planus 32 HP:0001763
15 microcephaly 32 HP:0000252
16 sensorineural hearing impairment 32 HP:0000407
17 visual impairment 32 HP:0000505
18 thick eyebrow 32 HP:0000574
19 optic atrophy 32 HP:0000648
20 neonatal hypotonia 32 HP:0001319
21 short stature 32 HP:0004322
22 abnormality of retinal pigmentation 32 HP:0007703
23 feeding difficulties in infancy 32 HP:0008872
24 delayed puberty 32 HP:0000823
25 laryngomalacia 32 HP:0001601
26 micrognathia 32 HP:0000347
27 strabismus 32 HP:0000486
28 joint hyperflexibility 32 HP:0005692
29 abnormality of the hip bone 32 HP:0003272
30 cryptorchidism 32 HP:0000028
31 cubitus valgus 32 HP:0002967
32 high, narrow palate 32 HP:0002705
33 reduced visual acuity 32 HP:0007663
34 prominent nasal bridge 32 HP:0000426
35 myopia 32 HP:0000545
36 cerebellar hypoplasia 32 HP:0001321
37 short philtrum 32 HP:0000322
38 microphthalmia 32 HP:0000568
39 intrauterine growth retardation 32 HP:0001511
40 clinodactyly of the 5th finger 32 HP:0004209
41 hypoplasia of the maxilla 32 HP:0000327
42 arachnodactyly 32 HP:0001166
43 joint hypermobility 32 HP:0001382
44 mitral valve prolapse 32 HP:0001634
45 downslanted palpebral fissures 32 HP:0000494
46 open mouth 32 HP:0000194
47 sandal gap 32 HP:0001852
48 ventricular septal defect 32 HP:0001629
49 reduced number of teeth 32 HP:0009804
50 neutropenia 32 HP:0001875

Drugs & Therapeutics for Cohen Syndrome

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

(show top 50) (show all 644)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4,Phase 3 59729-33-8 2771
2
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
3
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
4
Rocuronium Approved Phase 4,Phase 3,Phase 1,Phase 2 119302-91-9, 143558-00-3 441290
5
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
6
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1 50-48-6 2160
7
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1 303-53-7 2895
8
Hydrocodone Approved, Illicit Phase 4,Phase 3 125-29-1 5284569
9
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
10
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
11
Succinylcholine Approved Phase 4,Phase 2,Phase 3 306-40-1 5314
12
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3 5908-99-6, 51-55-8 174174
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 437-38-7 3345
14
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
15
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-99-4 4456
16
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
17
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 2078-54-8 4943
18
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 119380 68911
19
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
20
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 22916-47-8 4189
21
Quinine Approved Phase 4,Phase 3,Phase 2,Phase 1 130-95-0 8549 3034034
22
Artesunate Approved Phase 4,Phase 3,Phase 2 88495-63-0 6917864 5464098
23
Biperiden Approved Phase 4,Phase 3 514-65-8 2381
24
Diazepam Approved, Illicit, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 439-14-5 3016
25
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
26
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
27
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1 846-49-1 3958
28
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59467-70-8 4192
29
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
30
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 2180-92-9, 38396-39-3 2474
31
Remifentanil Approved Phase 4,Phase 3,Phase 2 132875-61-7 60815
32
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
33
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
34
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1 83-98-7 4601
35
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1134-47-0 2284
36
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
37
Bupropion Approved Phase 4,Phase 3,Phase 1,Phase 2 34841-39-9, 34911-55-2 444
38
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
39
Ritonavir Approved, Investigational Phase 4,Phase 3 155213-67-5 392622
40
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 1 154598-52-4 64139
41
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
42
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
43
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
44
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
45
Desflurane Approved Phase 4 57041-67-5 42113
46
Isoflurane Approved, Vet_approved Phase 4,Phase 2,Phase 3 26675-46-7 3763
47
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
48
Chlorzoxazone Approved Phase 4,Phase 1 95-25-0 2733
49
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
50
Ondansetron Approved Phase 4 99614-02-5 4595

Interventional clinical trials:

(show top 50) (show all 459)
id Name Status NCT ID Phase
1 Study of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia, and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4
2 Safety and Efficacy of the Novel Selective Nicotinic Receptor Partial Agonist, CHANTIX (Varenicline) in Patients With Acute Coronary Syndrome Unknown status NCT01170338 Phase 4
3 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
4 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Phase 4
5 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Unknown status NCT01587274 Phase 4
6 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4
7 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4
8 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
9 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4
10 Botulinum Toxin A for Treatment of Catocholamine Induced Finger Necrosis Unknown status NCT01500668 Phase 4
11 Street Fitness in Surgical Patients Undergoing General Anesthesia After Reversal of Neuromuscular Blockade Unknown status NCT01453530 Phase 4
12 Effect of Subanesthetic Dose of Ketamine Combined With Propofol on Cognitive Function in Depressive Patients Undergoing Electroconvulsive Therapy Unknown status NCT02305394 Phase 4
13 Effectiveness of Oral Quinine and Artemether-Lumefantrine in the Treatment of Uncomplicated Malaria in Ugandan Children Unknown status NCT00540202 Phase 4
14 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4
15 Optimization of Procedural Sedation Protocol Used for Dental Care Delivery in People With Mental Disability Unknown status NCT02078336 Phase 4
16 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4
17 Prognosis of Acute Coronary Syndrome in HIV-infected Patients Completed NCT00139958 Phase 4
18 Efficacy Study of Substitution of Darunavir/Ritonavir (DRV/r) for Dual-boosted Protease Inhibitors Completed NCT00543101 Phase 4
19 FOTO: Five Consecutive Days on Treatment With Efavirenz, Tenofovir, and Emtricitabine Followed by Two Days Off Treatment Versus Continuous Treatment Completed NCT00414635 Phase 4
20 0.6 vs. 1.2 mg Atropine Together With Neostigmine 2.5 mg on Heart Rate in Patient Receiving Muscle Relaxant Completed NCT02186132 Phase 4
21 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4
22 Preoperative Dexmedetomidine & EC50 of Propofol Completed NCT02097407 Phase 4
23 Effects of Intravenous Lidocaine Associated With Magnesium Sulfate on the Cisatracurium-Induced Neuromuscular Block Completed NCT02483611 Phase 4
24 Diazepam for Acute LBP Completed NCT02646124 Phase 4
25 Impact of Anesthetic Choice (Sevoflurane Versus Desflurane) on Airway Reflex Recovery in the Context of Antagonized Neuromuscular Block Completed NCT01199237 Phase 4
26 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4
27 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4
28 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
29 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4
30 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4
31 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4
32 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4
33 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
34 Improvement of Facial Nerve Monitoring in Parotid Surgery by Sugammadex Completed NCT02314234 Phase 4
35 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4
36 Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery Completed NCT02724111 Phase 4
37 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4
38 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4
39 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
40 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4
41 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
42 An Effectiveness and Safety Study of Cyclobenzaprine HCl Alone or in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4
43 BOTOX® Versus Zanaflex® for the Treatment of Post-Stroke or Traumatic Brain Injury Upper Limb Spasticity Completed NCT00430196 Phase 4
44 Quinine vs. Artemether/Lumefantrine in Uncomplicated Malaria During Pregnancy Completed NCT00495508 Phase 4
45 Treatment of Malaria With Quinine Plus Sulfadoxine-Pyrimethamine Completed NCT00167739 Phase 4
46 Parenteral Artesunate Compared to Quinine as a Cause of Late Anaemia in African Children With Malaria Completed NCT02092766 Phase 4
47 Tizanidine and Pain After Herniorrhaphy Completed NCT02016443 Phase 4
48 Comparative Study of Hemodynamic Changes Caused by Diazepam and Midazolam During Third Molar Surgery Completed NCT02177955 Phase 4
49 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4
50 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4

Search NIH Clinical Center for Cohen Syndrome

Cochrane evidence based reviews: muscle hypotonia

Genetic Tests for Cohen Syndrome

Genetic tests related to Cohen Syndrome:

id Genetic test Affiliating Genes
1 Cohen Syndrome 29 24 VPS13B

Anatomical Context for Cohen Syndrome

MalaCards organs/tissues related to Cohen Syndrome:

39
Eye, Bone, Skin, Tongue, Neutrophil, Brain, Retina

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 111)
id Title Authors Year
1
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. ( 26104215 )
2015
2
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. ( 25492866 )
2015
3
Testicular torsion in a patient with Cohen syndrome. ( 26328200 )
2015
4
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. ( 26358774 )
2015
5
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
6
Cohen syndrome is associated with major glycosylation defects. ( 24334764 )
2014
7
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. ( 25502226 )
2014
8
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. ( 23188044 )
2013
9
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. ( 23557616 )
2013
10
Surgical treatment for kyphoscoliosis in Cohen syndrome. ( 24640185 )
2013
11
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. ( 22233653 )
2012
12
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. ( 22855652 )
2012
13
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. ( 21865173 )
2011
14
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. ( 21605373 )
2011
15
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. ( 21330571 )
2011
16
Ophthalmic findings in the Greek isolate of Cohen syndrome. ( 21344628 )
2011
17
Cohen syndrome diagnosis using whole genome arrays. ( 20921020 )
2011
18
Clinical variability of genetic isolates of Cohen syndrome. ( 21418059 )
2011
19
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. ( 20461111 )
2010
20
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. ( 20656880 )
2010
21
Cohen syndrome - a rare genetic cause of hypotonia in children. ( 21977120 )
2010
22
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. ( 20683995 )
2010
23
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. ( 19006247 )
2009
24
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. ( 20098905 )
2009
25
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. ( 19190672 )
2009
26
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. ( 19533689 )
2009
27
Neuromuscular features in the camera-marugo-cohen syndrome. ( 18344716 )
2008
28
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. ( 18655112 )
2008
29
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. ( 18564496 )
2008
30
Enamel microabrasion in an individual with Cohen syndrome. ( 18489660 )
2008
31
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. ( 17990063 )
2007
32
High prevalence of Cohen syndrome among Irish travellers. ( 17786118 )
2007
33
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. ( 17383910 )
2007
34
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. ( 16948945 )
2006
35
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. ( 16648375 )
2006
36
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? ( 16488969 )
2006
37
Pediatric ophthalmologic findings of Cohen syndrome in twins. ( 15724900 )
2005
38
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. ( 16354227 )
2005
39
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. ( 15793684 )
2005
40
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. ( 15691367 )
2005
41
The anesthetic management of a patient with Cohen syndrome. ( 15333397 )
2004
42
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. ( 15025727 )
2004
43
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. ( 15173253 )
2004
44
Cohen syndrome with insulin resistance and seizure. ( 14738954 )
2004
45
Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: findings from a study of individuals with Cohen syndrome. ( 15165433 )
2004
46
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. ( 15154116 )
2004
47
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. ( 15141358 )
2004
48
Cohen syndrome in the Ohio Amish. ( 15211651 )
2004
49
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. ( 12676892 )
2003
50
Neuropsychological assessment of a group of UK patients with Cohen syndrome. ( 12690562 )
2003

Variations for Cohen Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 VPS13B p.Tyr2341Cys VAR_038422 rs386834104
2 VPS13B p.Gly2645Asp VAR_038423 rs120074153
3 VPS13B p.Asn2993Ser VAR_038424 rs28940272
4 VPS13B p.Ser2773Leu VAR_058754 rs180177370
5 VPS13B p.Ile2820Thr VAR_058755 rs120074155

ClinVar genetic disease variations for Cohen Syndrome:

6 (show top 50) (show all 189)
id Gene Variation Type Significance SNP ID Assembly Location
1 VPS13B NM_017890.4(VPS13B): c.3348_3349delCT (p.Cys1117Phefs) deletion Pathogenic rs180177327 GRCh37 Chromosome 8, 100454766: 100454767
2 VPS13B NM_017890.4(VPS13B): c.6578T> G (p.Leu2193Arg) single nucleotide variant Pathogenic rs120074149 GRCh37 Chromosome 8, 100729447: 100729447
3 VPS13B NM_017890.4(VPS13B): c.7051C> T (p.Arg2351Ter) single nucleotide variant Pathogenic rs120074150 GRCh37 Chromosome 8, 100733201: 100733201
4 VPS13B NM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter) single nucleotide variant Pathogenic rs120074151 GRCh37 Chromosome 8, 100523503: 100523503
5 VPS13B NM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter) single nucleotide variant Pathogenic rs120074152 GRCh37 Chromosome 8, 100396522: 100396522
6 VPS13B NM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp) single nucleotide variant Pathogenic rs120074153 GRCh37 Chromosome 8, 100796622: 100796622
7 VPS13B NM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter) single nucleotide variant Pathogenic rs120074154 GRCh37 Chromosome 8, 100866430: 100866430
8 VPS13B NM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs) duplication Pathogenic/Likely pathogenic rs180177329 GRCh37 Chromosome 8, 100836061: 100836061
9 VPS13B NM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr) single nucleotide variant Pathogenic rs120074155 GRCh37 Chromosome 8, 100830701: 100830701
10 VPS13B VPS13B, EX6-16DEL deletion Pathogenic
11 VPS13B VPS13B, 1-BP DEL, 11564A deletion Pathogenic
12 VPS13B VPS13B, EX46-50DEL deletion Pathogenic
13 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh37 Chromosome 8, 100861062: 100861063
14 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh37 Chromosome 8, 100865698: 100865698
15 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh37 Chromosome 8, 100866383: 100866386
16 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834057 GRCh37 Chromosome 8, 100871535: 100871535
17 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh37 Chromosome 8, 100874009: 100874009
18 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh37 Chromosome 8, 100874053: 100874056
19 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh37 Chromosome 8, 100874100: 100874100
20 VPS13B NM_017890.4(VPS13B): c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) deletion Likely pathogenic rs386834069 GRCh37 Chromosome 8, 100887731: 100887740
21 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
22 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh37 Chromosome 8, 100883050: 100883050
23 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh37 Chromosome 8, 100883101: 100883101
24 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh37 Chromosome 8, 100883109: 100883109
25 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh37 Chromosome 8, 100883703: 100883703
26 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh37 Chromosome 8, 100883800: 100883803
27 VPS13B NM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) indel Likely pathogenic rs386834067 GRCh37 Chromosome 8, 100883885: 100883889
28 VPS13B NM_017890.4(VPS13B): c.11907dupC (p.Ser3970Glnfs) duplication Pathogenic/Likely pathogenic rs180177374 GRCh37 Chromosome 8, 100887732: 100887732
29 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
30 VPS13B NM_017890.4(VPS13B): c.1225G> T (p.Glu409Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834071 GRCh37 Chromosome 8, 100146878: 100146878
31 VPS13B NM_017890.4(VPS13B): c.1269_1273delATTGT (p.Cys425Glyfs) deletion Likely pathogenic rs386834072 GRCh37 Chromosome 8, 100146922: 100146926
32 VPS13B NM_017890.4(VPS13B): c.1844-2A> G single nucleotide variant Likely pathogenic rs386834073 GRCh37 Chromosome 8, 100160067: 100160067
33 VPS13B NM_017890.4(VPS13B): c.2047delC (p.Gln683Serfs) deletion Likely pathogenic rs386834074 GRCh37 Chromosome 8, 100168810: 100168810
34 VPS13B NM_017890.4(VPS13B): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic/Likely pathogenic rs180177356 GRCh37 Chromosome 8, 100168837: 100168837
35 VPS13B NM_017890.4(VPS13B): c.219_220delACinsT (p.Lys73Asnfs) indel Likely pathogenic rs386834075 GRCh37 Chromosome 8, 100050722: 100050723
36 VPS13B NM_017890.4(VPS13B): c.22_23delCCinsA (p.Pro8Lysfs) indel Likely pathogenic rs386834076 GRCh37 Chromosome 8, 100026038: 100026039
37 VPS13B NM_017890.4(VPS13B): c.2651-1G> A single nucleotide variant Likely pathogenic rs386834077 GRCh37 Chromosome 8, 100287308: 100287308
38 VPS13B NM_017890.4(VPS13B): c.2727_2730dupGCTC (p.Asn911Alafs) duplication Pathogenic/Likely pathogenic rs180177357 GRCh37 Chromosome 8, 100287385: 100287388
39 VPS13B NM_017890.4(VPS13B): c.2889G> A (p.Trp963Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834078 GRCh37 Chromosome 8, 100396500: 100396500
40 VPS13B NM_017890.4(VPS13B): c.292-2A> G single nucleotide variant Likely pathogenic rs386834079 GRCh37 Chromosome 8, 100108538: 100108538
41 VPS13B NM_017890.4(VPS13B): c.2934+1_2934+2delGT deletion Pathogenic/Likely pathogenic rs180177358 GRCh37 Chromosome 8, 100396546: 100396547
42 VPS13B NM_017890.4(VPS13B): c.3427C> T (p.Arg1143Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834080 GRCh37 Chromosome 8, 100454845: 100454845
43 VPS13B NM_017890.4(VPS13B): c.3618T> A (p.Cys1206Ter) single nucleotide variant Likely pathogenic rs386834081 GRCh37 Chromosome 8, 100479814: 100479814
44 VPS13B NM_017890.4(VPS13B): c.3666+2T> C single nucleotide variant Likely pathogenic rs386834082 GRCh37 Chromosome 8, 100479864: 100479864
45 VPS13B NM_017890.4(VPS13B): c.404dupT (p.Leu135Phefs) duplication Likely pathogenic rs386834083 GRCh37 Chromosome 8, 100108652: 100108652
46 VPS13B NM_017890.4(VPS13B): c.4334delA (p.Gln1445Argfs) deletion Likely pathogenic rs386834084 GRCh37 Chromosome 8, 100523366: 100523366
47 VPS13B NM_017890.4(VPS13B): c.4396dupA (p.Thr1466Asnfs) duplication Likely pathogenic rs386834085 GRCh37 Chromosome 8, 100523428: 100523428
48 VPS13B NM_017890.4(VPS13B): c.4411C> T (p.Arg1471Ter) single nucleotide variant Likely pathogenic rs386834086 GRCh37 Chromosome 8, 100523443: 100523443
49 VPS13B NM_017890.4(VPS13B): c.4474delA (p.Ile1492Phefs) deletion Likely pathogenic rs386834087 GRCh37 Chromosome 8, 100523506: 100523506
50 VPS13B NM_017890.4(VPS13B): c.4480_4482delCTT (p.Leu1494del) deletion Likely pathogenic rs386834088 GRCh37 Chromosome 8, 100523512: 100523514

Copy number variations for Cohen Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 230892 8 100025493 100889807 Deletion or duplication COH1 Cohen syndrome

Expression for Cohen Syndrome

Search GEO for disease gene expression data for Cohen Syndrome.

Pathways for Cohen Syndrome

Pathways related to Cohen Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.51 ITGAM SELL
2 11.32 ITGAM SELL
3 11.02 ITGAM SELL
4 10.5 ITGAM SELL

GO Terms for Cohen Syndrome

Sources for Cohen 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
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38 LifeMap
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42 MeSH
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44 MGI
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52 Novoseek
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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