COH1
MCID: CHN016
MIFTS: 53

Cohen Syndrome (COH1)

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

Aliases & Classifications for Cohen Syndrome

MalaCards integrated aliases for Cohen Syndrome:

Name: Cohen Syndrome 58 77 25 54 26 76 38 30 13 56 6
Pepper Syndrome 58 54 26 76
Hypotonia, Obesity, and Prominent Incisors 58 54 26
Coh1 58 54 76
Prominent Incisors-Obesity-Hypotonia Syndrome 26
Hypotonia-Obesity-Prominent Incisors 76
Obesity-Hypotonia Syndrome 26
Stage 4s Neuroblastoma 74
Muscle Hypotonia 45
Syndrome, Cohen 41
Chs1, Formerly 58
Norio Syndrome 26
Chs1 76
Coh 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cohen syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cohen Syndrome

NIH Rare Diseases : 54 Cohen syndromeis 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.

MalaCards based summary : Cohen Syndrome, also known as pepper syndrome, is related to granulocytopenia and salt and pepper syndrome. 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 Carboplatin and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are myopia and intellectual disability

Genetics Home Reference : 26 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.

OMIM : 58 Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014). (216550)

UniProtKB/Swiss-Prot : 76 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 : 77 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 77)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 29.8 ITGAM SELL
2 salt and pepper syndrome 12.3
3 camera-marugo-cohen syndrome 12.3
4 gay feinmesser cohen syndrome 12.1
5 richieri-costa guion-almeida cohen syndrome 12.0
6 salt and pepper developmental regression syndrome 11.9
7 chediak-higashi syndrome 11.5
8 cohen-gibson syndrome 11.3
9 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.2
10 holoprosencephaly, semilobar, with craniosynostosis 11.2
11 deafness nephritis anorectal malformation 11.2
12 hydrolethalus syndrome 1 11.1
13 kleeblattschaedel 11.1
14 cowden syndrome 1 11.0
15 proteus-like syndrome 11.0
16 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.9
17 shprintzen-goldberg craniosynostosis syndrome 10.8
18 galactosemia 10.8
19 mulibrey nanism 10.8
20 canavan disease 10.8
21 mental retardation, x-linked, syndromic, turner type 10.8
22 pontocerebellar hypoplasia, type 1a 10.8
23 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.8
24 arthrogryposis, mental retardation, and seizures 10.8
25 cutis laxa, autosomal dominant 3 10.8
26 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.8
27 vitamin b12-responsive methylmalonic acidemia 10.8
28 neutropenia 10.1
29 sporotrichosis 10.1
30 frontometaphyseal dysplasia 10.1
31 hypotonia 10.1
32 bardet-biedl syndrome 18 10.0 INPP5E VPS13B
33 diabetes mellitus, noninsulin-dependent 10.0
34 retinopathy, pigmentary, and mental retardation 10.0
35 microcephaly 10.0
36 ataxia and polyneuropathy, adult-onset 10.0
37 acanthosis nigricans 9.8
38 macular dystrophy, dominant cystoid 9.8
39 prader-willi syndrome 9.8
40 pulmonary hypertension, primary, 1 9.8
41 rheumatoid arthritis 9.8
42 testicular torsion 9.8
43 autism 9.8
44 cerebellar hypoplasia 9.8
45 retinoschisis 1, x-linked, juvenile 9.8
46 asthma 9.8
47 arthritis 9.8
48 diabetes mellitus 9.8
49 leukemia 9.8
50 thrombocytopenia 9.8

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:

33 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 myopia 33 obligate (100%) HP:0000545
2 intellectual disability 33 hallmark (90%) HP:0001249
3 muscular hypotonia 33 hallmark (90%) HP:0001252
4 neurological speech impairment 33 hallmark (90%) HP:0002167
5 gingival overgrowth 33 hallmark (90%) HP:0000212
6 global developmental delay 33 hallmark (90%) HP:0001263
7 microcephaly 33 hallmark (90%) HP:0000252
8 thick eyebrow 33 hallmark (90%) HP:0000574
9 micrognathia 33 hallmark (90%) HP:0000347
10 high, narrow palate 33 hallmark (90%) HP:0002705
11 prominent nasal bridge 33 hallmark (90%) HP:0000426
12 short philtrum 33 hallmark (90%) HP:0000322
13 hypoplasia of the maxilla 33 hallmark (90%) HP:0000327
14 arachnodactyly 33 hallmark (90%) HP:0001166
15 downslanted palpebral fissures 33 hallmark (90%) HP:0000494
16 open mouth 33 hallmark (90%) HP:0000194
17 sandal gap 33 hallmark (90%) HP:0001852
18 reduced number of teeth 33 hallmark (90%) HP:0009804
19 neutropenia 33 hallmark (90%) HP:0001875
20 low anterior hairline 33 hallmark (90%) HP:0000294
21 long eyelashes 33 hallmark (90%) HP:0000527
22 tapered finger 33 hallmark (90%) HP:0001182
23 aplasia/hypoplasia of the tongue 33 hallmark (90%) HP:0010295
24 slender toe 33 hallmark (90%) HP:0011308
25 chorioretinal dystrophy 33 hallmark (90%) HP:0001135
26 hypoplasia of the zygomatic bone 33 hallmark (90%) HP:0010669
27 obesity 33 frequent (33%) HP:0001513
28 genu valgum 33 frequent (33%) HP:0002857
29 finger syndactyly 33 frequent (33%) HP:0006101
30 short stature 33 frequent (33%) HP:0004322
31 feeding difficulties in infancy 33 frequent (33%) HP:0008872
32 delayed puberty 33 frequent (33%) HP:0000823
33 joint hyperflexibility 33 frequent (33%) HP:0005692
34 intrauterine growth retardation 33 frequent (33%) HP:0001511
35 cubitus valgus 33 frequent (33%) HP:0002967
36 failure to thrive in infancy 33 frequent (33%) HP:0001531
37 clinodactyly of the 5th finger 33 frequent (33%) HP:0004209
38 decreased fetal movement 33 frequent (33%) HP:0001558
39 cat cry 33 frequent (33%) HP:0200046
40 abnormality of skin pigmentation 33 frequent (33%) HP:0001000
41 weak cry 33 frequent (33%) HP:0001612
42 macrodontia 33 frequent (33%) HP:0001572
43 thick hair 33 frequent (33%) HP:0100874
44 narrow palm 33 frequent (33%) HP:0004283
45 pectus excavatum 33 occasional (7.5%) HP:0000767
46 nystagmus 33 occasional (7.5%) HP:0000639
47 seizures 33 occasional (7.5%) HP:0001250
48 scoliosis 33 occasional (7.5%) HP:0002650
49 kyphosis 33 occasional (7.5%) HP:0002808
50 sensorineural hearing impairment 33 occasional (7.5%) HP:0000407

Symptoms via clinical synopsis from OMIM:

58
Skeletal Limbs:
genu valgum
cubitus valgus
joint hyperextensibility

Head And Neck Head:
microcephaly

Growth Height:
short stature

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
mild shortening of metacarpals

Skeletal Spine:
mild lumbar lordosis
mild thoracic scoliosis

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

Cardiovascular Heart:
mitral valve prolapse

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

Growth Weight:
low birth weight
truncal obesity developing in midchildhood

Head And Neck Teeth:
prominent upper central incisors

Skeletal Feet:
narrow feet
mild shortening of metatarsals

Clinical features from OMIM:

216550

Drugs & Therapeutics for Cohen Syndrome

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

(show top 50) (show all 249)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
2
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
3
Etoposide Approved Phase 3,Phase 2,Phase 1,Not Applicable 33419-42-0 36462
4
Busulfan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 55-98-1 2478
5
Lenograstim Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 135968-09-1
6
Isotretinoin Approved Phase 3,Phase 2,Phase 1,Not Applicable 4759-48-2 5282379 5538
7
Melphalan Approved Phase 3,Phase 2,Phase 1,Not Applicable 148-82-3 460612 4053
8
Vincristine Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 2068-78-2, 57-22-7 5978
9
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
10
Ifosfamide Approved Phase 3,Phase 2,Phase 1,Not Applicable 3778-73-2 3690
11
Vindesine Approved, Investigational Phase 3,Phase 2,Not Applicable 53643-48-4, 59917-39-4 40839
12
Cisplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 2767 441203 84093
13
Dacarbazine Approved, Investigational Phase 3,Phase 2,Not Applicable 4342-03-4 5351166
14
Topotecan Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 119413-54-6, 123948-87-8 60700
15
Aldesleukin Approved Phase 3,Phase 2,Phase 1 110942-02-4, 85898-30-2
16
Sargramostim Approved, Investigational Phase 3,Phase 2,Phase 1 123774-72-1, 83869-56-1
17
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
18
Cobalt Approved, Experimental Phase 3,Phase 2,Phase 1 7440-48-4 104729
19
Mesna Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 3375-50-6 598
20
Mechlorethamine Approved, Investigational Phase 3,Phase 1,Phase 2,Not Applicable 51-75-2 4033
21
Thiotepa Approved, Investigational Phase 3,Phase 2,Phase 1 52-24-4 5453
22
Captopril Approved Phase 3 62571-86-2 44093
23
Ribavirin Approved Phase 3 36791-04-5 37542
24
Palivizumab Approved, Investigational Phase 3 188039-54-5
25
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
26
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable 22916-47-8 4189
27
Itraconazole Approved, Investigational Phase 3,Not Applicable 84625-61-6 55283
28
Caspofungin Approved Phase 3,Phase 2,Not Applicable 162808-62-0, 179463-17-3 2826718 468682
29
Amphotericin B Approved, Investigational Phase 3 1397-89-3 5280965 14956
30
Acyclovir Approved Phase 3 59277-89-3 2022
31
Histamine Approved, Investigational Phase 3 51-45-6 774
32
Cyproheptadine Approved Phase 3 129-03-3 2913
33
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
34
Norgestimate Approved, Investigational Phase 3 35189-28-7 6540478
35
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
36
Polyestradiol phosphate Approved Phase 3 28014-46-2
37
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
38
Mycophenolic acid Approved Phase 3 24280-93-1 446541
39
Tretinoin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 302-79-4 444795 5538
40
Serine Approved, Nutraceutical Phase 3 56-45-1 5951
41
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 68-26-8, 22737-96-8, 11103-57-4 9904001 445354
42
Calcium Approved, Nutraceutical Phase 3,Phase 2,Phase 1,Not Applicable 7440-70-2 271
43
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
44
Emodepside Investigational, Vet_approved Phase 3 155030-63-0
45 Antibodies Phase 3,Phase 2,Phase 1
46 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
47 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable
48 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
49 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1,Not Applicable
50 Dermatologic Agents Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 161)
# Name Status NCT ID Phase Drugs
1 Combination Chemotherapy With or Without Filgrastim Before Surgery, High-Dose Chemotherapy, and Radiation Therapy Followed by Isotretinoin With or Without Monoclonal Antibody in Treating Patients With Neuroblastoma Unknown status NCT00030719 Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;isotretinoin;melphalan;vincristine sulfate
2 Combination Chemotherapy in Treating Infants With Newly Diagnosed Neuroblastoma Who Are Undergoing Surgery With or Without Autologous Bone Marrow or Peripheral Stem Cell Transplant Unknown status NCT00417053 Phase 3 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide phosphate;melphalan;vincristine sulfate
3 Observation, Combination Chemotherapy, Radiation Therapy, and/or Autologous Stem Cell Transplant in Treating Young Patients With Neuroblastoma Unknown status NCT00410631 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide phosphate;ifosfamide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate;vindesine
4 Combination Chemotherapy in Treating Young Patients Who Are Undergoing Surgery and an Autologous Bone Marrow Transplant for Disseminated Neuroblastoma Completed NCT00365755 Phase 3 carboplatin;cisplatin;cyclophosphamide;etoposide;melphalan;vincristine sulfate
5 Surgery in Treating Children With Neuroblastoma Completed NCT00003119 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
6 Combination Chemotherapy and Surgery With or Without Isotretinoin in Treating Young Patients With Neuroblastoma Completed NCT00499616 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;topotecan hydrochloride;Isotretinoin;Filgrastim
7 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
8 Combination Chemotherapy in Treating Children With Neuroblastoma Completed NCT00003093 Phase 3 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide
9 Monoclonal Antibody Ch14.18, Sargramostim, Aldesleukin, and Isotretinoin After Autologous Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT01041638 Phase 3 Isotretinoin
10 Therapy Based on Stage of Disease and Risk Assessment in Treating Children With Neuroblastoma Completed NCT00002802 Phase 3 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;mesna;vincristine sulfate;vindesine
11 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;melphalan;topotecan hydrochloride;vincristine sulfate
12 Comparing Two Different Myeloablation Therapies in Treating Young Patients Who Are Undergoing a Stem Cell Transplant for High-Risk Neuroblastoma Completed NCT00567567 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate Liposome
13 Isotretinoin With or Without Dinutuximab, Aldesleukin, and Sargramostim Following Stem Cell Transplant in Treating Patients With Neuroblastoma Completed NCT00026312 Phase 3 Isotretinoin
14 Supersaturated Calcium Phosphate Rinse in Preventing Oral Mucositis in Young Patients Undergoing Autologous or Donor Stem Cell Transplant Completed NCT01305200 Phase 3 supersaturated calcium phosphate rinse
15 Internet-Based Program With or Without Telephone-Based Problem-Solving Training in Helping Long-Term Survivors of Hematopoietic Stem Cell Transplant Cope With Late Complications Completed NCT00799461 Phase 3
16 Sodium Thiosulfate in Preventing Hearing Loss in Young Patients Receiving Cisplatin for Newly Diagnosed Germ Cell Tumor, Hepatoblastoma, Medulloblastoma, Neuroblastoma, Osteosarcoma, or Other Malignancy Completed NCT00716976 Phase 3 sodium thiosulfate
17 A Web-Based Stem Cell Transplant Support System or Standard Care in Young Patients Undergoing Stem Cell Transplant and Their Families Completed NCT00782145 Phase 3
18 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
19 Captopril in Treating Patients Undergoing Bone Marrow or Stem Cell Transplantation Completed NCT00004230 Phase 3 captopril;cyclophosphamide
20 Ribavirin With or Without Monoclonal Antibody Therapy in Treating Patients Who Develop RSV Pneumonia Following Peripheral Stem Cell Transplantation Completed NCT00014391 Phase 3 ribavirin
21 Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation Completed NCT00003883 Phase 3 fluconazole;itraconazole
22 Caspofungin Acetate Compared With Amphotericin B Liposomal in Treating Patients With Persistent Fever and Neutropenia Following Cancer Treatment Completed NCT00008359 Phase 3 caspofungin acetate;liposomal amphotericin B
23 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
24 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
25 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
26 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
27 Mycophenolate Mofetil (MMF) for Treatment of Chronic Graft-versus-host Disease (GVHD) Terminated NCT00089141 Phase 3 mycophenolate mofetil;placebo
28 Chemotherapy and Surgery Followed by Peripheral Stem Cell Transplantation in Treating Patients With Metastatic Neuroblastoma Unknown status NCT00024193 Phase 2 busulfan;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
29 Interleukin-2 in Treating Children With Stage IV Neuroblastoma Who Have Received Induction Therapy and Peripheral Stem Cell Transplantation Unknown status NCT00003743 Phase 2
30 Topotecan, Vincristine, and Doxorubicin in Treating Young Patients With Refractory Stage 4 Neuroblastoma Unknown status NCT00392340 Phase 2 doxorubicin hydrochloride;topotecan hydrochloride;vincristine sulfate
31 Combination Chemotherapy With or Without Radiation Therapy in Treating Children With Brain Tumors Unknown status NCT00281905 Phase 2 carboplatin;cisplatin;cyclophosphamide;methotrexate;vincristine sulfate
32 Light-Emitting Diode Therapy in Preventing Mucositis in Children Receiving Chemotherapy With or Without Radiation Therapy Before Bone Marrow Transplantation Unknown status NCT00036712 Phase 2
33 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
34 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2 busulfan;cyclophosphamide;fludarabine phosphate;melphalan;methylprednisolone
35 Monoclonal Antibody Therapy in Treating Children With Metastatic Neuroblastoma in Second Remission Completed NCT00002458 Phase 2
36 Iodobenzylguanidine Meta-I131 and Topotecan in Young Patients With Refractory or Relapsed Metastatic Neuroblastoma Completed NCT00960739 Phase 2 Topotecan hydrochloride
37 Combination Chemotherapy Followed by Surgery in Treating Infants With Newly Diagnosed Neuroblastoma Completed NCT00025623 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
38 Combination Chemotherapy in Treating Infants With Newly Diagnosed Neuroblastoma Completed NCT00025610 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;vincristine sulfate
39 Temozolomide in Treating Young Patients With High-Risk Relapsed or Refractory Neuroblastoma Completed NCT00276679 Phase 2 temozolomide
40 Combination Chemotherapy Plus Peripheral Stem Cell Transplantation in Treating Children With Newly Diagnosed Neuroblastoma Completed NCT00017368 Phase 2 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;etoposide phosphate;ifosfamide;isotretinoin;melphalan;thiotepa;vincristine sulfate
41 Multiple Therapies in Treating Patients With Advanced Neuroblastoma Completed NCT00040872 Phase 2 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;isotretinoin;thiotepa;topotecan hydrochloride;vincristine sulfate
42 Monoclonal Antibody Therapy Plus Etoposide in Treating Patients With Neuroblastoma Completed NCT00004110 Phase 2 etoposide;isotretinoin
43 Combination Chemotherapy or Observation Following Surgery in Treating Infants With Neuroblastoma Completed NCT00002803 Phase 2 cyclophosphamide;doxorubicin hydrochloride;vincristine sulfate
44 Biological Therapy in Treating Patients With Neuroblastoma That Has Not Responded to Previous Treatment Completed NCT00089258 Phase 2 isotretinoin
45 Combination Chemotherapy Followed by Surgery and Peripheral Stem Cell or Bone Marrow Transplantation in Treating Infants With Newly Diagnosed Neuroblastoma Completed NCT00025649 Phase 2 busulfan;carboplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;melphalan;vincristine sulfate
46 Radiation Therapy, Chemotherapy, and Peripheral Stem Cell Transplantation in Treating Patients With Primitive Neuroectodermal Tumors Completed NCT00003846 Phase 2 carboplatin;cyclophosphamide;thiotepa;vincristine sulfate
47 Chemotherapy and Radiation Therapy With or Without Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00017225 Phase 2 carboplatin;cisplatin;cyclophosphamide;dacarbazine;doxorubicin hydrochloride;etoposide;ifosfamide;melphalan;tretinoin;vincristine sulfate;vindesine
48 Chemotherapy, Radiation Therapy, Immunotherapy, and Bone Marrow Transplantation in Treating Patients With Neuroblastoma Completed NCT00002634 Phase 2 cisplatin;cyclophosphamide;doxorubicin hydrochloride;etoposide;mesna;perfosfamide;vincristine sulfate
49 Carboplatin and Vincristine Plus Radiation Therapy Followed By Adjuvant Chemotherapy in Treating Young Patients With Newly Diagnosed CNS Embryonal Tumors Completed NCT00003203 Phase 2 carboplatin;cisplatin;cyclophosphamide;vincristine sulfate
50 Ondansetron in Preventing Nausea and Vomiting in Patients Undergoing Stem Cell Transplant Completed NCT00795769 Phase 2 ondansetron

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 30 VPS13B

Anatomical Context for Cohen Syndrome

MalaCards organs/tissues related to Cohen Syndrome:

42
Bone, Bone Marrow, Eye, Brain, Skin, T Cells, Retina

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 128)
# Title Authors Year
1
Nonleaking cystoid macular edema in Cohen syndrome. ( 30144585 )
2019
2
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. ( 30843084 )
2019
3
Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21). ( 29264741 )
2018
4
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. ( 29634382 )
2018
5
Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. ( 29758347 )
2018
6
Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient. ( 29985682 )
2018
7
Cohen Syndrome: Review of the Literature. ( 30473963 )
2018
8
Neonatal neuroblastoma 4s with diffuse liver metastases (Pepper syndrome) without an adrenal/extraadrenal primary identified on imaging. ( 29875990 )
2018
9
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. ( 29149870 )
2017
10
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. ( 25492866 )
2015
11
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. ( 26104215 )
2015
12
Testicular torsion in a patient with Cohen syndrome. ( 26328200 )
2015
13
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. ( 26358774 )
2015
14
Cohen syndrome is associated with major glycosylation defects. ( 24334764 )
2014
15
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
16
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. ( 25502226 )
2014
17
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. ( 24311531 )
2014
18
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. ( 24026681 )
2014
19
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. ( 23188044 )
2013
20
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. ( 23557616 )
2013
21
Surgical treatment for kyphoscoliosis in Cohen syndrome. ( 24640185 )
2013
22
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. ( 22233653 )
2012
23
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. ( 22855652 )
2012
24
Cohen syndrome diagnosis using whole genome arrays. ( 20921020 )
2011
25
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. ( 21330571 )
2011
26
Ophthalmic findings in the Greek isolate of Cohen syndrome. ( 21344628 )
2011
27
Clinical variability of genetic isolates of Cohen syndrome. ( 21418059 )
2011
28
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. ( 21605373 )
2011
29
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. ( 21865173 )
2011
30
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. ( 20683995 )
2010
31
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. ( 20461111 )
2010
32
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
33
Cohen syndrome - a rare genetic cause of hypotonia in children. ( 21977120 )
2010
34
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. ( 19006247 )
2009
35
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. ( 19190672 )
2009
36
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. ( 19533689 )
2009
37
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. ( 20098905 )
2009
38
Neuromuscular features in the camera-marugo-cohen syndrome. ( 18344716 )
2008
39
Enamel microabrasion in an individual with Cohen syndrome. ( 18489660 )
2008
40
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. ( 18564496 )
2008
41
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. ( 18655112 )
2008
42
FNA diagnosis of Hutchison Pepper syndrome and metastatic neuroblastoma: a report of two cases. ( 18831014 )
2008
43
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. ( 17383910 )
2007
44
High prevalence of Cohen syndrome among Irish travellers. ( 17786118 )
2007
45
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. ( 17990063 )
2007
46
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? ( 16488969 )
2006
47
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. ( 16648375 )
2006
48
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. ( 16948945 )
2006
49
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. ( 15691367 )
2005
50
Pediatric ophthalmologic findings of Cohen syndrome in twins. ( 15724900 )
2005

Variations for Cohen Syndrome

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

76
# 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 1287)
# 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.3348_3349delCT (p.Cys1117Phefs) deletion Pathogenic rs180177327 GRCh38 Chromosome 8, 99442538: 99442539
3 VPS13B NM_017890.4(VPS13B): c.6578T> G (p.Leu2193Arg) single nucleotide variant Pathogenic rs120074149 GRCh37 Chromosome 8, 100729447: 100729447
4 VPS13B NM_017890.4(VPS13B): c.6578T> G (p.Leu2193Arg) single nucleotide variant Pathogenic rs120074149 GRCh38 Chromosome 8, 99717219: 99717219
5 VPS13B NM_017890.4(VPS13B): c.7051C> T (p.Arg2351Ter) single nucleotide variant Pathogenic rs120074150 GRCh37 Chromosome 8, 100733201: 100733201
6 VPS13B NM_017890.4(VPS13B): c.7051C> T (p.Arg2351Ter) single nucleotide variant Pathogenic rs120074150 GRCh38 Chromosome 8, 99720973: 99720973
7 VPS13B NM_017890.4(VPS13B): c.8978A> G (p.Asn2993Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28940272 GRCh37 Chromosome 8, 100832259: 100832259
8 VPS13B NM_017890.4(VPS13B): c.8978A> G (p.Asn2993Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs28940272 GRCh38 Chromosome 8, 99820031: 99820031
9 VPS13B NM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter) single nucleotide variant Pathogenic rs120074151 GRCh37 Chromosome 8, 100523503: 100523503
10 VPS13B NM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter) single nucleotide variant Pathogenic rs120074151 GRCh38 Chromosome 8, 99511275: 99511275
11 VPS13B NM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter) single nucleotide variant Pathogenic rs120074152 GRCh37 Chromosome 8, 100396522: 100396522
12 VPS13B NM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter) single nucleotide variant Pathogenic rs120074152 GRCh38 Chromosome 8, 99384294: 99384294
13 VPS13B NM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs120074153 GRCh37 Chromosome 8, 100796622: 100796622
14 VPS13B NM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs120074153 GRCh38 Chromosome 8, 99784394: 99784394
15 VPS13B NM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter) single nucleotide variant Likely pathogenic rs120074154 GRCh37 Chromosome 8, 100866430: 100866430
16 VPS13B NM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter) single nucleotide variant Likely pathogenic rs120074154 GRCh38 Chromosome 8, 99854202: 99854202
17 VPS13B NM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs) duplication Pathogenic/Likely pathogenic rs180177329 GRCh37 Chromosome 8, 100836061: 100836061
18 VPS13B NM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs) duplication Pathogenic/Likely pathogenic rs180177329 GRCh38 Chromosome 8, 99823833: 99823833
19 VPS13B NM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr) single nucleotide variant Pathogenic rs120074155 GRCh37 Chromosome 8, 100830701: 100830701
20 VPS13B NM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr) single nucleotide variant Pathogenic rs120074155 GRCh38 Chromosome 8, 99818473: 99818473
21 VPS13B VPS13B, EX6-16DEL deletion Pathogenic
22 VPS13B VPS13B, 1-BP DEL, 11564A deletion Pathogenic
23 VPS13B VPS13B, EX46-50DEL deletion Pathogenic
24 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh37 Chromosome 8, 100861062: 100861063
25 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh38 Chromosome 8, 99848834: 99848835
26 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh37 Chromosome 8, 100865698: 100865698
27 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh38 Chromosome 8, 99853470: 99853470
28 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh37 Chromosome 8, 100866383: 100866386
29 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh38 Chromosome 8, 99854155: 99854158
30 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834057 GRCh37 Chromosome 8, 100871535: 100871535
31 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834057 GRCh38 Chromosome 8, 99859307: 99859307
32 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh37 Chromosome 8, 100874009: 100874009
33 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh38 Chromosome 8, 99861781: 99861781
34 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh37 Chromosome 8, 100874053: 100874056
35 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh38 Chromosome 8, 99861825: 99861828
36 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh37 Chromosome 8, 100874100: 100874100
37 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh38 Chromosome 8, 99861872: 99861872
38 VPS13B NM_017890.4(VPS13B): c.3618T> A (p.Cys1206Ter) single nucleotide variant Likely pathogenic rs386834081 GRCh38 Chromosome 8, 99467586: 99467586
39 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
40 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
41 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh37 Chromosome 8, 100883050: 100883050
42 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh38 Chromosome 8, 99870822: 99870822
43 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh37 Chromosome 8, 100883101: 100883101
44 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh38 Chromosome 8, 99870873: 99870873
45 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh37 Chromosome 8, 100883109: 100883109
46 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh38 Chromosome 8, 99870881: 99870881
47 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh37 Chromosome 8, 100883703: 100883703
48 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh38 Chromosome 8, 99871475: 99871475
49 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh37 Chromosome 8, 100883800: 100883803
50 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh38 Chromosome 8, 99871572: 99871575

Copy number variations for Cohen Syndrome from CNVD:

7
# 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:

# 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 10.49 ITGAM SELL

GO Terms for Cohen Syndrome

Sources for Cohen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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