COH1
MCID: CHN016
MIFTS: 59

Cohen Syndrome (COH1)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cohen Syndrome

MalaCards integrated aliases for Cohen Syndrome:

Name: Cohen Syndrome 57 12 73 25 20 43 58 72 36 29 13 54 6 44 15
Pepper Syndrome 57 12 20 43 72
Hypotonia, Obesity, and Prominent Incisors 57 12 20 43
Coh1 57 12 20 72
Prominent Incisors-Obesity-Hypotonia Syndrome 43
Hypotonia-Obesity-Prominent Incisors 72
Obesity-Hypotonia Syndrome 43
Stage 4s Neuroblastoma 70
Muscle Hypotonia 44
Syndrome, Cohen 39
Chs1, Formerly 57
Norio Syndrome 43
Chs1 72
Coh 57

Characteristics:

Orphanet epidemiological data:

58
cohen syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
cheerful disposition
increased frequency in ashkenazi jewish population and in finland


HPO:

31
cohen syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
Rare immunological diseases


Summaries for Cohen Syndrome

MedlinePlus Genetics : 43 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 common in this condition include worsening nearsightedness (myopia), breakdown (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. These facial features typically 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.The features of Cohen syndrome vary widely among affected individuals. Additional signs and symptoms in some individuals with this disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically occurs around the torso, with the arms and legs remaining slender (called truncal obesity). Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers.

MalaCards based summary : Cohen Syndrome, also known as pepper syndrome, is related to ehlers-danlos syndrome, kyphoscoliotic type, 2 and hypotonia. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways is Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. The drugs Rocuronium and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are myopia and intellectual disability

Disease Ontology : 12 A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has material basis in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2.

GARD : 20 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.

OMIM® : 57 Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014). (216550) (Updated 20-May-2021)

KEGG : 36 Cohen syndrome is an autosomal recessive disorder with a broad phenotypic spectrum. Essential symptoms include mental retardation, progressive postnatal microcephaly, typical facial anomalies, ophthalmologic findings such as chorioretinal dystrophy and myopia, and granulocytopenia. Obesity and growth delay could be observed. In most patients, Cohen syndrome is caused by loss-of-function mutations in the COH1 gene.

UniProtKB/Swiss-Prot : 72 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 : 73 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive... more...

GeneReviews: NBK1482

Related Diseases for Cohen Syndrome

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

(show top 50) (show all 199)
# Related Disease Score Top Affiliating Genes
1 ehlers-danlos syndrome, kyphoscoliotic type, 2 32.2 FKBP14-AS1 FKBP14
2 hypotonia 31.8 GNB1 EBF3 DOCK3 AHDC1
3 microcephaly 31.7 VPS13B KARS1 GRIN2B GNB1 EXOSC3 CEP290
4 alacrima, achalasia, and mental retardation syndrome 31.4 VPS13B RUBCN RPS6KA3 GRIN2B GNB1 EBF3
5 hypermobile ehlers-danlos syndrome 30.9 GRIN2B FKBP14-AS1 FKBP14
6 ataxia and polyneuropathy, adult-onset 30.8 GRIN2B EBF3
7 encephalocele 30.7 MKS1 CEP290
8 salt and pepper syndrome 11.4
9 salt and pepper developmental regression syndrome 11.3
10 camera-marugo-cohen syndrome 11.3
11 gay feinmesser cohen syndrome 11.2
12 chediak-higashi syndrome 11.2
13 holoprosencephaly, semilobar, with craniosynostosis 11.2
14 deafness nephritis anorectal malformation 11.2
15 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.1
16 hydrolethalus syndrome 1 11.1
17 richieri-costa guion-almeida cohen syndrome 11.1
18 ehlers-danlos syndrome, kyphoscoliotic type, 1 11.0
19 cohen-gibson syndrome 11.0
20 galactosemia i 10.9
21 shprintzen-goldberg craniosynostosis syndrome 10.8
22 galactosemia ii 10.8
23 galactosemia iii 10.8
24 mulibrey nanism 10.8
25 mental retardation, x-linked, syndromic, turner type 10.8
26 pontocerebellar hypoplasia, type 1a 10.8
27 arthrogryposis, mental retardation, and seizures 10.8
28 cutis laxa, autosomal dominant 3 10.8
29 combined oxidative phosphorylation deficiency 38 10.8
30 galactosemia iv 10.8
31 adenosylcobalamin deficiency 10.8
32 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.8
33 spondylodysplastic ehlers-danlos syndrome 10.8
34 neutropenia 10.6
35 myopia 10.6
36 autosomal recessive disease 10.6
37 kyphoscoliotic ehlers-danlos syndrome 10.5 FKBP14-AS1 FKBP14
38 joubert syndrome 5 10.5 MKS1 CEP290 C12orf29
39 meckel syndrome, type 4 10.5 MKS1 CEP290 C12orf29
40 pathologic nystagmus 10.5 RUBCN MKS1 GNB1 CEP290
41 bardet-biedl syndrome 14 10.5 MKS1 CEP290 C12orf29
42 carney complex, type 1 10.5 VPS13B ATP2B3
43 senior-loken syndrome 6 10.5 CEP290 C12orf29
44 retinal aplasia 10.5 CEP290 C12orf29
45 attention deficit-hyperactivity disorder 10.5 VPS13B MAP1B GRIN2B DOCK3 C12orf4
46 joubert syndrome 6 10.5 MKS1 CEP290
47 joubert syndrome 9 10.5 MKS1 CEP290
48 disease of mental health 10.5 VPS13B RUBCN RPS6KA3 MAP1B KARS1 GRIN2B
49 leber congenital amaurosis 6 10.5 MKS1 CEP290
50 nephronophthisis 7 10.5 MKS1 CEP290

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



Diseases related to Cohen Syndrome

Symptoms & Phenotypes for Cohen Syndrome

Human phenotypes related to Cohen Syndrome:

58 31 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 58 31 obligate (100%) Very frequent (99-80%) HP:0000545
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
6 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
7 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 high, narrow palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002705
10 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
11 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
12 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
13 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
14 sandal gap 58 31 hallmark (90%) Very frequent (99-80%) HP:0001852
15 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
16 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
17 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
18 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
19 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
20 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
21 tapered finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0001182
22 long eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000527
23 aplasia/hypoplasia of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0010295
24 chorioretinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001135
25 slender toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0011308
26 hypotonia 31 hallmark (90%) HP:0001252
27 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
28 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
29 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
30 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
31 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
32 cubitus valgus 58 31 frequent (33%) Frequent (79-30%) HP:0002967
33 obesity 58 31 frequent (33%) Frequent (79-30%) HP:0001513
34 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
35 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
36 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
37 decreased fetal movement 58 31 frequent (33%) Frequent (79-30%) HP:0001558
38 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
39 cat cry 58 31 frequent (33%) Frequent (79-30%) HP:0200046
40 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
41 macrodontia 58 31 frequent (33%) Frequent (79-30%) HP:0001572
42 weak cry 58 31 frequent (33%) Frequent (79-30%) HP:0001612
43 narrow palm 58 31 frequent (33%) Frequent (79-30%) HP:0004283
44 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
45 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
46 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
47 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
48 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
49 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
50 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
hypotonia
mental retardation
delayed motor milestones
more
Head And Neck Eyes:
optic atrophy
myopia
chorioretinal dystrophy
downslanting palpebral fissures
decreased visual acuity
more
Endocrine Features:
delayed puberty
growth hormone deficiency

Head And Neck Mouth:
high, narrow palate
open mouth appearance

Head And Neck Nose:
prominent nasal bridge

Hematology:
neutropenia
leukopenia

Skeletal Hands:
transverse palmar creases
narrow hands
shortening of metacarpals, mild

Head And Neck Teeth:
prominent upper central incisors

Head And Neck Head:
microcephaly

Growth Height:
short stature

Skeletal Limbs:
genu valgum
cubitus valgus
joint hyperextensibility

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Face:
short philtrum
facial hypotonia
maxillary hypoplasia
micrognathia, mild

Growth Weight:
low birth weight
truncal obesity developing in midchildhood

Skeletal Spine:
lumbar lordosis, mild
thoracic scoliosis, mild

Skeletal Feet:
narrow feet
short metatarsals, mild

Clinical features from OMIM®:

216550 (Updated 20-May-2021)

Drugs & Therapeutics for Cohen Syndrome

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
3
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
4
Orphenadrine Approved Phase 4 83-98-7 4601
5 Anesthetics Phase 4
6 Neuromuscular Blocking Agents Phase 4
7 Neuromuscular Nondepolarizing Agents Phase 4
8 Bromides Phase 4
9 Sodium Channel Blockers Phase 4
10 Anesthetics, Local Phase 4
11 Diuretics, Potassium Sparing Phase 4
12 Anti-Arrhythmia Agents Phase 4
13 Anti-Asthmatic Agents Phase 4
14 Respiratory System Agents Phase 4
15 Muscarinic Antagonists Phase 4
16 Mydriatics Phase 4
17 Bronchodilator Agents Phase 4
18 Acetaminophen, hydrocodone drug combination Phase 4
19 Antiparkinson Agents Phase 4
20 Antipyretics Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Cytochrome P-450 Enzyme Inhibitors Phase 4
23
Succinylcholine Approved Phase 3 306-40-1 5314
24
Remifentanil Approved Phase 3 132875-61-7 60815
25 Narcotics Phase 3
26 Analgesics, Opioid Phase 3
27
Sulfamethoxazole Approved Phase 2 723-46-6 5329
28
Neostigmine Approved, Vet_approved Phase 1, Phase 2 59-99-4 4456
29
Cisatracurium Approved Phase 2 96946-41-7 62887
30 Anti-Infective Agents Phase 2
31 Neurotransmitter Agents Phase 1, Phase 2
32 Cholinesterase Inhibitors Phase 1, Phase 2
33 Cholinergic Agents Phase 1, Phase 2
34
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
35
Sevoflurane Approved, Vet_approved 28523-86-6 5206
36
Atropine Approved, Vet_approved 5908-99-6, 51-55-8 174174
37
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
38
tannic acid Approved 1401-55-4
39
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
40
Atracurium Approved, Experimental, Investigational 64228-79-1 47319
41
Acetaminophen Approved 103-90-2 1983
42
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
43
Tramadol Approved, Investigational 27203-92-5 33741
44
Gabapentin Approved, Investigational 60142-96-3 3446
45
Ketorolac Approved 74103-06-3, 66635-83-4 3826
46
Tizanidine Approved, Investigational 51322-75-9 5487
47 Hormones
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors
49 Hypnotics and Sedatives
50 Anesthetics, General

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
2 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant; Impact on Postoperative Sore Throat and Haemodynamics Unknown status NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
3 Phase 4 Study of Optimal Relaxation With Rocuronium Infusion Followed by Rapid Reliable Reversal With Sugammadex: A Comparison With Conventional Practice Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
4 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Arthroplasty (TKA). Prospective, Randomized, Open-label Trial to Determine if Switching From Oral to Intravenous Acetaminophen and Orphenadrine for 48 Hours After TKA Improves Outcomes. Completed NCT02449369 Phase 4 Preop acetaminophen IV;Preop orphenadrine IV;Postop oral oxycodone & acetaminophen;Postop hydromorphone IV;Postop oral orphenadrine;Postop oral oxycodone;Postop acetaminophen IV;Postop orphenadrine IV
5 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
6 The Effect of 0.6 vs. 1.2 Milligram Atropine Together With Neostigmine 2.5 Milligram on Heart Rate in Patient Receiving Muscle Relaxant During General Anesthesia Completed NCT02186132 Phase 4 Atropine 0.6 mg;Atropine 1.2 mg
7 Requirement of Skeletal Muscle Paralysis in Hypothermic Patients After Cardiac Arrest - a Pilot Study Completed NCT01719770 Phase 3 rocuronium
8 Assessment of Remifentanil for Rapid Sequence Induction and Intubation in Full Stomach Patient Compared to Muscle Relaxant. A Non-inferiority Simple Blind Randomized Controlled Trial Recruiting NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
9 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
10 Target-Controlled Infusion of Remifentanil Without Muscle Relaxant Allows Acceptable Surgical Conditions During Thoracotomy Completed NCT02030808 Phase 2 Muscle Relaxants (MR) group;Non- Muscle Relaxants (NMR) group
11 The Effectiveness of Neostigmine on the Recovery of Rocuronium-Induced Neuromuscular Blockade: A Comparison Between Partial Dose and TOF Ratio-Based Adjustment Dose Completed NCT03058263 Phase 1, Phase 2 Dose of Neostigmine
12 Comparison of Intubating Condition of the Mcgrath Videolaryngoscope With and Without Muscle Relaxant Completed NCT02575716 Phase 1
13 Epidemiologic Study on Short and Long-Term Effects of Anesthesia With Muscle Relaxants (Epidemiologische Untersuchung Kurz- Und längerfristiger Auswirkungen Der Anästhesie Mit Muskelrelaxanzien) Unknown status NCT00753389
14 PREPL in Health and Disease Unknown status NCT02263781
15 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
16 Causes of Peripheral Hypotonia in Children Attending Assiut University Children Hospital Unknown status NCT03857555
17 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
18 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
19 Comparison of the Clinical Performances of Flexible Laryngeal Mask Airway in Pediatric Patients Under General Anesthesia With or Without Muscle Relaxant: a Randomized Controlled Non-inferiority Trial Completed NCT03487003 rocuronium;saline
20 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium;Rocuronium
21 Using Fentanyl and Propofol for Tracheal Intubation During Sevoflurane Induction Without Muscle Relaxants in Children: a Randomized Prospective Study Completed NCT02442128 propofol /Fentanyl;Fentanyl / propofol
22 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
23 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
24 An Evaluation of the Clinical Efficacy of Massage Therapy in a Multisensory Environment for Residents With Severe and Profound Intellectual Disabilities Completed NCT02120820
25 Efficacy of Intravenous Glyco-P® in Patients Undergoing Procedure That Require Anesthesia Service Completed NCT02102542
26 POPULAR: POst-operative PULmonary Complications After Use of Muscle Relaxants in Europe - A European Prospective Multicenter Observational Study Completed NCT01865513
27 A Prospective, Randomized, Multicenter, Self-controlled, Blinded Trial on the Efficacy and Safety of Poly-L-lactic Acid - SCULPTRA - for the Treatment of Corporal Skin Flaccidity. Completed NCT03225066
28 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
29 Evaluation of the Effectiveness and Safety of Endotracheal Intubation for Inhalational Anesthesia Without the Use of Muscle Relaxants or Analgesics Completed NCT03112564 Sevoflurane 8% + Intravenous fentanyl
30 A Natural History Study of hnRNP-related Disorders Recruiting NCT03492060
31 Respiratory Benefits of Small Doses Muscle Relaxant in General Anesthesia Recruiting NCT04344262 Atracurium Besylate regular dose;Atracurium Besylate minial dose
32 Effectiveness of Sugammadex on Muscle Relaxant Reversal in Preterm Neonates Recruiting NCT04566796 Sugammadex;Neostigmine
33 Comparison of Osteopathic Treatment Versus Simulation on Motor Development of Hypotonic Infants. Recruiting NCT03852004
34 Neonatal Hypotonia Associated With in Utero Exposure to Antidepressant-Analysis of Two Pharmacovigilance Databases Active, not recruiting NCT04830241 Antidepressant
35 Addition of Muscle Relaxants in a Multimodal Analgesic Regimen for Analgesia After Primary Total Knee Arthroplasty Enrolling by invitation NCT04574791 TiZANidine 2 MG Oral Capsule
36 Assessment of Dentist Pharmacist Communication About Usage of Skeletal Muscle Relaxants Survey Among Egyptian Dental Practitioners Not yet recruiting NCT04747743
37 Effect of Perioperative Muscle Relaxant Model on Postoperative Outcomes in Chinese Patients Not yet recruiting NCT04371588
38 Difference of Muscle Power and Myokine Profile After Upper Limb or Lower Limb Electric Muscle Stimulation in Patients With Severe Sepsis and Acute Respiratory Failure Terminated NCT01895647
39 The Dose-response Relationship of Rocuronium in Patients Taking Pyridostigmine Preoperatively Compared With Age and Sex Matched Controls Withdrawn NCT02157545

Search NIH Clinical Center for Cohen Syndrome

Cochrane evidence based reviews: muscle hypotonia

Genetic Tests for Cohen Syndrome

Genetic tests related to Cohen Syndrome:

# Genetic test Affiliating Genes
1 Cohen Syndrome 29 VPS13B

Anatomical Context for Cohen Syndrome

MalaCards organs/tissues related to Cohen Syndrome:

40
Eye, Bone, Liver, Skeletal Muscle, Tongue, Retina, Neutrophil

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 238)
# Title Authors PMID Year
1
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 54 25 61 57 6
18655112 2008
2
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 6 25 57 54 61
16648375 2006
3
Cohen syndrome in the Ohio Amish. 54 61 57 25 6
15211651 2004
4
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. 54 61 25 6 57
12730828 2003
5
Cohen syndrome is associated with major glycosylation defects. 61 57 6 25
24334764 2014
6
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 25 57 61 6
20461111 2010
7
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 6 61 57 25
17990063 2007
8
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 57 61 25 6
15141358 2004
9
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. 57 6 61
24311531 2014
10
Cohen syndrome diagnosis using whole genome arrays. 57 61 6
20921020 2011
11
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. 61 6 57
20683995 2010
12
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. 61 6 25 54
19533689 2009
13
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. 61 6 57
19190672 2009
14
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 6 61 25 54
15154116 2004
15
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. 25 6 61
23188044 2013
16
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. 25 6 61
21330571 2011
17
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. 25 61 6
21865173 2011
18
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 25 6 61
19006247 2009
19
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. 61 25 6
16917849 2006
20
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. 25 61 6
15691367 2005
21
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. 61 25 6
15173253 2004
22
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. 57 25 61
15025727 2004
23
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. 61 57 25
12676892 2003
24
Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients. 61 57 25
12220454 2002
25
Cohen syndrome: essential features, natural history, and heterogeneity. 57 25 61
11477603 2001
26
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. 57 6
11169562 2001
27
Ophthalmologic findings in Cohen syndrome. A long-term follow-up. 25 57 61
10964838 2000
28
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. 57 25 61
10842298 2000
29
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. 61 25 57
10466416 1999
30
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. 61 57 25
10029348 1998
31
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. 57 25 61
9825573 1998
32
Granulocytopenia in Cohen syndrome. 61 57 25
9266925 1997
33
Growth hormone deficiency in a girl with the Cohen syndrome. 61 25 57
1999833 1991
34
The Cohen syndrome in Israel. 25 57 61
2432032 1986
35
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. 61 57 25
6705238 1984
36
Cardiac involvement in the Cohen syndrome: a case report. 61 25 57
7438489 1980
37
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. 57 54 61
7920642 1994
38
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. 25 57
4717588 1973
39
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. 61 6
33025479 2020
40
Optical coherence tomography findings in Cohen syndrome. 61 6
32919079 2020
41
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. 61 6
31580008 2020
42
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. 61 6
30602132 2020
43
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. 61 6
30843084 2019
44
Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. 6 61
29758347 2018
45
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. 61 6
28631888 2017
46
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. 61 57
26358774 2015
47
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. 61 6
25271213 2014
48
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. 6 61
22855652 2012
49
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. 61 6
20656880 2010
50
High prevalence of Cohen syndrome among Irish travellers. 6 61
17786118 2007

Variations for Cohen Syndrome

ClinVar genetic disease variations for Cohen Syndrome:

6 (show top 50) (show all 1639)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EBF3 NM_001005463.3(EBF3):c.1101+1G>T SNV Pathogenic 212723 rs797046136 GRCh37: 10:131646655-131646655
GRCh38: 10:129848391-129848391
2 MAP1B NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) SNV Pathogenic 638688 rs1580027036 GRCh37: 5:71494550-71494550
GRCh38: 5:72198723-72198723
3 overlap with 27 genes NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del Deletion Pathogenic 180224 GRCh37: 6:112511751-118037596
GRCh38:
4 RPS6KA3 NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter) SNV Pathogenic 523475 rs1555928716 GRCh37: X:20185787-20185787
GRCh38: X:20167669-20167669
5 GNB1 NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) SNV Pathogenic 224713 rs758432471 GRCh37: 1:1737952-1737952
GRCh38: 1:1806513-1806513
6 VPS13B VPS13B, EX6-16DEL Deletion Pathogenic 2828 GRCh37:
GRCh38:
7 VPS13B VPS13B, 1-BP DEL, 11564A Deletion Pathogenic 2829 GRCh37:
GRCh38:
8 VPS13B VPS13B, EX46-50DEL Deletion Pathogenic 2830 GRCh37:
GRCh38:
9 VPS13B NM_017890.4(VPS13B):c.5086C>T (p.Arg1696Ter) SNV Pathogenic 56803 rs386834093 GRCh37: 8:100587947-100587947
GRCh38: 8:99575719-99575719
10 VPS13B NM_017890.4(VPS13B):c.11119+2T>C SNV Pathogenic 132795 rs587777382 GRCh37: 8:100871710-100871710
GRCh38: 8:99859482-99859482
11 VPS13B NM_017890.4(VPS13B):c.8990G>A (p.Trp2997Ter) SNV Pathogenic 212584 rs797046098 GRCh37: 8:100832271-100832271
GRCh38: 8:99820043-99820043
12 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
13 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) SNV Pathogenic 224715 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
14 VPS13B NM_152564.4(VPS13B):c.10165_10207del (p.Leu3389fs) Deletion Pathogenic 226118 rs875989882 GRCh37: 8:100865782-100865824
GRCh38: 8:99853554-99853596
15 AHDC1 NM_001029882.3(AHDC1):c.2371_2372TG[1] (p.Cys791fs) Microsatellite Pathogenic 133326 rs587779766 GRCh37: 1:27876253-27876254
GRCh38: 1:27549742-27549743
16 AHDC1 NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs) Deletion Pathogenic 133327 rs587779767 GRCh37: 1:27875729-27875729
GRCh38: 1:27549218-27549218
17 AHDC1 NM_001029882.3(AHDC1):c.2547del (p.Ser850fs) Deletion Pathogenic 133328 rs587779768 GRCh37: 1:27876080-27876080
GRCh38: 1:27549569-27549569
18 VPS13B NM_152564.4(VPS13B):c.3346_3347CT[1] (p.Cys1117fs) Microsatellite Pathogenic 2818 rs180177327 GRCh37: 8:100454764-100454765
GRCh38: 8:99442536-99442537
19 VPS13B NM_017890.4(VPS13B):c.6578T>G (p.Leu2193Arg) SNV Pathogenic 2819 rs120074149 GRCh37: 8:100729447-100729447
GRCh38: 8:99717219-99717219
20 VPS13B NM_017890.4(VPS13B):c.9406-1G>C SNV Pathogenic 189197 rs386834119 GRCh37: 8:100844596-100844596
GRCh38: 8:99832368-99832368
21 GNB1 NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) SNV Pathogenic 224711 rs869312821 GRCh37: 1:1737954-1737954
GRCh38: 1:1806515-1806515
22 GNB1 NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) SNV Pathogenic 224718 rs869312826 GRCh37: 1:1718817-1718817
GRCh38: 1:1787378-1787378
23 VPS13B NM_017890.4(VPS13B):c.7603C>T (p.Arg2535Ter) SNV Pathogenic 56688 rs386834107 GRCh37: 8:100791008-100791008
GRCh38: 8:99778780-99778780
24 VPS13B NM_017890.4(VPS13B):c.5827C>T (p.Arg1943Ter) SNV Pathogenic 56679 rs386834099 GRCh37: 8:100654570-100654570
GRCh38: 8:99642342-99642342
25 VPS13B NM_017890.4(VPS13B):c.4820+2T>C SNV Pathogenic 56669 rs386834091 GRCh37: 8:100533240-100533240
GRCh38: 8:99521012-99521012
26 VPS13B NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) SNV Pathogenic 56658 rs386834080 GRCh37: 8:100454845-100454845
GRCh38: 8:99442617-99442617
27 VPS13B NM_017890.4(VPS13B):c.2074C>T (p.Arg692Ter) SNV Pathogenic 56650 rs180177356 GRCh37: 8:100168837-100168837
GRCh38: 8:99156609-99156609
28 VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic 56645 rs386834070 GRCh37: 8:100146872-100146872
GRCh38: 8:99134644-99134644
29 VPS13B NM_017890.4(VPS13B):c.11125del (p.Leu3709fs) Deletion Pathogenic 56632 rs386834058 GRCh37: 8:100874007-100874007
GRCh38: 8:99861779-99861779
30 VPS13B NM_017890.4(VPS13B):c.9793dup (p.Met3265fs) Duplication Pathogenic 279782 rs886041185 GRCh37: 8:100847523-100847524
GRCh38: 8:99835295-99835296
31 VPS13B NM_152564.4(VPS13B):c.5921_5922CT[1] (p.Leu1975fs) Microsatellite Pathogenic 280018 rs886041323 GRCh37: 8:100673594-100673595
GRCh38: 8:99661366-99661367
32 VPS13B NM_015243.2(VPS13B):c.901_904del (p.Thr301fs) Deletion Pathogenic 370733 rs759536357 GRCh37: 8:100128063-100128066
GRCh38: 8:99115835-99115838
33 FKBP14 , FKBP14-AS1 NM_017946.4(FKBP14):c.362dup (p.Glu122fs) Duplication Pathogenic 279809 rs542489955 GRCh37: 7:30058726-30058727
GRCh38: 7:30019110-30019111
34 EBF3 NM_001005463.3(EBF3):c.488G>A (p.Arg163Gln) SNV Pathogenic 268156 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
35 EBF3 NM_001005463.3(EBF3):c.488G>T (p.Arg163Leu) SNV Pathogenic 268155 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
36 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) SNV Pathogenic 242884 rs1114167292 GRCh37: 3:197431557-197431557
GRCh38: 3:197704686-197704686
37 ATP2B3 NM_001001344.2(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic 242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
38 VPS13B NM_017890.4(VPS13B):c.7174del (p.Ala2392fs) Deletion Pathogenic 437259 rs1554948192 GRCh37: 8:100779050-100779050
GRCh38: 8:99766822-99766822
39 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) SNV Pathogenic 242883 rs767982852 GRCh37: 3:197421288-197421288
GRCh38: 3:197694417-197694417
40 VPS13B NM_017890.4(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic 56645 rs386834070 GRCh37: 8:100146872-100146872
GRCh38: 8:99134644-99134644
41 VPS13B NC_000008.11:g.(?_99121157)_(99193077_?)del Deletion Pathogenic 459244 GRCh37:
GRCh38: 8:99121157-99193077
42 VPS13B NM_017890.4(VPS13B):c.6374_6383del (p.Trp2125fs) Deletion Pathogenic 459247 rs1554911731 GRCh37: 8:100712002-100712011
GRCh38: 8:99699774-99699783
43 VPS13B NM_017890.4(VPS13B):c.8117_8118del (p.Gly2706fs) Deletion Pathogenic 459250 rs1554560735 GRCh37: 8:100821703-100821704
GRCh38: 8:99809475-99809476
44 VPS13B NM_017890.4(VPS13B):c.10810A>T (p.Lys3604Ter) SNV Pathogenic 379881 rs1057520769 GRCh37: 8:100866352-100866352
GRCh38: 8:99854124-99854124
45 MKS1 NM_001165927.1(MKS1):c.1136-2A>C SNV Pathogenic 523519 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
46 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) SNV Pathogenic 1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
47 VPS13B NC_000008.11:g.(?_99209572)_(99391724_?)del Deletion Pathogenic 528872 GRCh37: 8:100221800-100403952
GRCh38: 8:99209572-99391724
48 VPS13B and overlap with 3 gene(s) NC_000008.11:g.(?_99274178)_(99721067_?)del Deletion Pathogenic 528873 GRCh37: 8:100286406-100733295
GRCh38: 8:99274178-99721067
49 VPS13B NM_017890.4(VPS13B):c.4684_4685del (p.Glu1562fs) Deletion Pathogenic 548466 rs1554826615 GRCh37: 8:100523715-100523716
GRCh38: 8:99511487-99511488
50 VPS13B NM_152564.4(VPS13B):c.6578_6579insTA (p.Trp2193fs) Insertion Pathogenic 548537 rs1554922054 GRCh37: 8:100729522-100729523
GRCh38: 8:99717294-99717295

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

72
# 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

Copy number variations for Cohen Syndrome from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 230892 8 100025493 100889807 Deletion or duplication VPS13B 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:

# Super pathways Score Top Affiliating Genes
1 10.96 RPS6KA3 GRIN2B DOCK3

GO Terms for Cohen Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 MKS complex GO:0036038 8.62 MKS1 CEP290

Sources for Cohen 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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