COH1
MCID: CHN016
MIFTS: 64

Cohen Syndrome (COH1)

Categories: Blood diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Cohen Syndrome

MalaCards integrated aliases for Cohen Syndrome:

Name: Cohen Syndrome 57 11 24 19 42 58 75 73 28 12 53 5 43 14 38
Pepper Syndrome 57 11 42 73
Hypotonia, Obesity, and Prominent Incisors 57 11 42
Coh1 57 11 73
Prominent Incisors-Obesity-Hypotonia Syndrome 42
Hypotonia-Obesity-Prominent Incisors 73
Obesity-Hypotonia Syndrome 42
Stage 4s Neuroblastoma 71
Chs1, Formerly 57
Norio Syndrome 42
Chs1 73
Coh 57

Characteristics:


Inheritance:

Autosomal recessive 58 57

Age Of Onset:

Antenatal,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
cheerful disposition
increased frequency in ashkenazi jewish population and in finland


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: 42 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 granulocytopenia and neutropenia. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways is Autophagy pathway. The drugs Carboplatin and Picropodophyllin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related phenotypes are myopia and intellectual disability

GARD: 19 Cohen syndrome is a congenital (present at birth) condition. Symptoms vary considerably from person to person but may include distinctive facial features, retinal dystrophy, nearsightedness, small head size, intellectual disability, global developmental delay, weak muscle tone, and unusually large range of joint movement. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have genetic changes 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.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Wikipedia: 75 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 205)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 30.7 SELL ITGAM
2 neutropenia 30.3 VPS45 VPS13B SELL JAGN1 ITGAM HAX1
3 choreoacanthocytosis 29.8 VPS13D VPS13C VPS13B VPS13A
4 severe congenital neutropenia 29.5 VPS45 VPS13B JAGN1 HAX1 G6PC3
5 salt and pepper syndrome 11.6
6 camera-marugo-cohen syndrome 11.5
7 deafness nephritis anorectal malformation 11.5
8 salt and pepper developmental regression syndrome 11.4
9 holoprosencephaly, semilobar, with craniosynostosis 11.2
10 gay feinmesser cohen syndrome 11.2
11 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.1
12 hydrolethalus syndrome 1 11.1
13 retinopathy, pigmentary, and mental retardation 11.0
14 richieri-costa guion-almeida cohen syndrome 11.0
15 hypotonia 10.7
16 microcephaly 10.7
17 myopia 10.6
18 retinitis pigmentosa 10.4
19 fundus dystrophy 10.4
20 inherited retinal disorder 10.4
21 ceroid lipofuscinosis, neuronal, 5 10.4
22 chediak-higashi syndrome 10.4
23 late-onset retinal degeneration 10.3
24 autism 10.3
25 autism spectrum disorder 10.3
26 cataract 10.3
27 retinitis 10.2
28 albinism 10.2
29 frontometaphyseal dysplasia 10.2
30 connective tissue disease 10.2
31 autosomal recessive severe congenital neutropenia 10.1 HAX1 G6PC3
32 oculocutaneous albinism 10.1
33 prader-willi syndrome 10.1
34 night blindness, congenital stationary, type 1a 10.1
35 orthostatic intolerance 10.1
36 scoliosis 10.1
37 peripheral retinal degeneration 10.1
38 macular retinal edema 10.1
39 retinal degeneration 10.1
40 night blindness 10.1
41 ovarian hyperstimulation syndrome 10.1
42 severe congenital neutropenia 6 10.1 JAGN1 G6PC3
43 severe congenital neutropenia 4 10.1 HAX1 G6PC3
44 macular dystrophy, dominant cystoid 10.1
45 strabismus 10.1
46 hyperinsulinism 10.1
47 refractive error 10.1
48 hypermobile ehlers-danlos syndrome 10.1
49 posttransplant acute limbic encephalitis 10.1
50 ehlers-danlos syndrome, classic type, 1 10.1

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 30 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopia 58 30 Obligate (100%) Very frequent (99-80%)
HP:0000545
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 neurological speech impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002167
4 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
5 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
6 gingival overgrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000212
7 microcephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000252
8 thick eyebrow 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000574
9 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
10 high, narrow palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002705
11 arachnodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001166
12 downslanted palpebral fissures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000494
13 open mouth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000194
14 sandal gap 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001852
15 hypoplasia of the zygomatic bone 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010669
16 low anterior hairline 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000294
17 prominent nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000426
18 short philtrum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000322
19 neutropenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001875
20 hypoplasia of the maxilla 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000327
21 tapered finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001182
22 long eyelashes 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000527
23 aplasia/hypoplasia of the tongue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010295
24 chorioretinal dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001135
25 slender toe 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011308
26 tooth agenesis 30 Hallmark (90%) HP:0009804
27 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
28 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
29 delayed puberty 58 30 Frequent (33%) Frequent (79-30%)
HP:0000823
30 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
31 intrauterine growth retardation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001511
32 cubitus valgus 58 30 Frequent (33%) Frequent (79-30%)
HP:0002967
33 obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001513
34 failure to thrive in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001531
35 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
36 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
37 decreased fetal movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0001558
38 finger syndactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0006101
39 cat cry 58 30 Frequent (33%) Frequent (79-30%)
HP:0200046
40 abnormality of skin pigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001000
41 macrodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001572
42 weak cry 58 30 Frequent (33%) Frequent (79-30%)
HP:0001612
43 narrow palm 58 30 Frequent (33%) Frequent (79-30%)
HP:0004283
44 thick hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0100874
45 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
46 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
47 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
48 kyphosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002808
49 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
50 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
cerebellar hypoplasia
seizures
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.18 ADSL ALMS1 BAMBI G6PC3 HAX1 INPP5E
2 no effect GR00402-S-2 10.18 ADSL ALMS1 BAMBI HAX1 INPP5E ITGAM
3 Increased Akt phosphorylation after EGF stimulation GR00204-A-2 8.96 G6PC3 INPP5E

MGI Mouse Phenotypes related to Cohen Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.7 ALMS1 G6PC3 HAX1 ITGAM JAGN1 MC4R
2 hematopoietic system MP:0005397 9.36 G6PC3 HAX1 ITGAM JAGN1 MC4R SELL

Drugs & Therapeutics for Cohen Syndrome

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

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 3 41575-94-4 10339178 38904
2
Picropodophyllin Approved, Investigational Phase 3 518-28-5, 477-47-4 10607 72435
3
Thiotepa Approved, Investigational Phase 3 52-24-4 5453
4
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
5
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
6
Aldesleukin Approved Phase 3 110942-02-4
7
Dinutuximab Approved, Investigational Phase 3 1363687-32-4
8
Sargramostim Approved, Investigational Phase 3 123774-72-1
9
Isotretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4, 4759-48-2 5538 444795 5282379
10
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8 5280382 445354
11
Molgramostim Investigational Phase 3 99283-10-0
12 Adjuvants, Immunologic Phase 3
13 Nitrogen Mustard Compounds Phase 3
14 Antineoplastic Agents, Hormonal Phase 3
15 Antirheumatic Agents Phase 3
16 Immunoglobulins, Intravenous Phase 3
17 Melanocyte-Stimulating Hormones Phase 3
18 Alkylating Agents Phase 3
19 Antineoplastic Agents, Alkylating Phase 3
20 Adrenocorticotropic Hormone Phase 3
21
beta-Endorphin Phase 3
22 Immunoglobulins Phase 3
23 Neurotransmitter Agents Phase 3
24 Hormones Phase 3
25 Hormone Antagonists Phase 3
26 Corticotropin-Releasing Hormone Phase 3
27 Anti-Inflammatory Agents Phase 3
28 glucocorticoids Phase 3
29 Antibodies Phase 3
30 Immunosuppressive Agents Phase 3
31 gamma-Globulins Phase 3
32 Immunologic Factors Phase 3
33 Rho(D) Immune Globulin Phase 3
34 Endorphins Phase 3
35 Antiviral Agents Phase 3
36 Vitamins Phase 3
37 Anti-Infective Agents Phase 3
38 Anti-Retroviral Agents Phase 3
39 Trace Elements Phase 3
40 Keratolytic Agents Phase 3
41 Interleukin-2 Phase 3
42 Anti-HIV Agents Phase 3
43 Antibodies, Monoclonal Phase 3
44 Analgesics, Non-Narcotic Phase 3
45 Analgesics Phase 3
46 Dermatologic Agents Phase 3
47 Micronutrients Phase 3
48 Retinol palmitate Phase 3
49
D-Alanine Experimental, Nutraceutical Phase 3 302-72-7, 338-69-2, 56-41-7 101757026 602 71080 5950
50
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Phase III Randomized Trial of Single vs. Tandem Myeloablative Consolidation Therapy for High-Risk Neuroblastoma Completed NCT00567567 Phase 3 Carboplatin;Cisplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Etoposide;Isotretinoin;Melphalan;Thiotepa;Topotecan Hydrochloride;Vincristine Sulfate Liposome
2 A Pilot Study Randomized Trial of Intravenous Gammaglobulin Therapy for Patients With Neuroblastoma Associated Opsoclonus-Myoclonus-Ataxia Syndrome Treated With Chemotherapy and Prednisone Active, not recruiting NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
3 Phase III Randomized Study of Chimeric Antibody 14.18 (Ch14.18) in High Risk Neuroblastoma Following Myeloablative Therapy and Autologous Stem Cell Rescue Active, not recruiting NCT00026312 Phase 3 Isotretinoin
4 Phase I Study of Vorinostat in Combination With 13-Cis-retinoic Acid in Patients With Refractory/Recurrent Neuroblastoma Completed NCT01208454 Phase 1 Isotretinoin;Vorinostat
5 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
6 Analysis of Circulating MYCN DNA in Serum Samples Obtained From Patients With Neuroblastoma Completed NCT00898391
7 Prognostic Multigene Expression Classification of Neuroblastoma Patients Completed NCT00958659
8 Pharmacokinetics of the Chimeric Anti-GD2 Antibody, ch14.18, in Children With High-Risk Neuroblastoma Completed NCT01418495
9 Observational - Expression of Ubiquitin Carboxyl-Terminal Hydrolase 1 (UCHL1) in Neuroblastoma Cancer Stem Cells and Its Relationship to Patient Prognosis Completed NCT01358617
10 Neuroblastoma Biology Studies Recruiting NCT00904241
11 LEAHRN (Late Effects After High-Risk Neuroblastoma) Study Active, not recruiting NCT03057626
12 A COG Pilot Study of Intensive Induction Chemotherapy and 131I-MIBG Followed by Myeloablative Busulfan/Melphalan (Bu/Mel) for Newly Diagnosed High-Risk Neuroblastoma Active, not recruiting NCT01175356 cyclophosphamide;topotecan hydrochloride;cisplatin;etoposide phosphate;vincristine sulfate;doxorubicin hydrochloride;busulfan;melphalan;isotretinoin
13 Pilot Study Using Myeloablative Busulfan/Melphalan (BuMel) Consolidation Following Induction Chemotherapy for Patients With Newly Diagnosed High-Risk Neuroblastoma Active, not recruiting NCT01798004 cyclophosphamide;topotecan hydrochloride;cisplatin;etoposide;vincristine sulfate;doxorubicin hydrochloride;busulfan;melphalan;mesna

Search NIH Clinical Center for Cohen Syndrome

Cochrane evidence based reviews: cohen syndrome

Genetic Tests for Cohen Syndrome

Genetic tests related to Cohen Syndrome:

# Genetic test Affiliating Genes
1 Cohen Syndrome 28 VPS13B

Anatomical Context for Cohen Syndrome

Organs/tissues related to Cohen Syndrome:

MalaCards : Eye, Bone, Tongue, Skin, Bone Marrow, Retina, Neutrophil
ODiseA: Blood And Bone Marrow

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 572)
# Title Authors PMID Year
1
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. 53 62 24 57 5
18655112 2008
2
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. 53 62 24 57 5
16648375 2006
3
Cohen syndrome in the Ohio Amish. 53 62 24 57 5
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. 53 62 24 57 5
12730828 2003
5
Cohen syndrome is associated with major glycosylation defects. 62 24 57 5
24334764 2014
6
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. 62 24 57 5
20461111 2010
7
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. 62 24 57 5
17990063 2007
8
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. 62 24 57 5
15141358 2004
9
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. 62 57 5
24311531 2014
10
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. 62 57 5
20683995 2010
11
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. 53 62 24 5
19533689 2009
12
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. 62 57 5
19190672 2009
13
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. 53 62 24 5
15154116 2004
14
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. 62 24 5
23188044 2013
15
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. 62 24 5
21330571 2011
16
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. 62 24 5
21865173 2011
17
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 62 24 5
19006247 2009
18
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. 62 24 5
16917849 2006
19
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. 62 24 5
15691367 2005
20
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. 62 24 5
15173253 2004
21
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. 62 24 57
15025727 2004
22
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. 62 24 57
12676892 2003
23
Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients. 62 24 57
12220454 2002
24
Cohen syndrome: essential features, natural history, and heterogeneity. 62 24 57
11477603 2001
25
Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers. 57 5
11169562 2001
26
Ophthalmologic findings in Cohen syndrome. A long-term follow-up. 62 24 57
10964838 2000
27
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. 62 24 57
10842298 2000
28
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. 62 24 57
10466416 1999
29
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. 62 24 57
10029348 1998
30
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. 62 24 57
9825573 1998
31
Granulocytopenia in Cohen syndrome. 62 24 57
9266925 1997
32
Growth hormone deficiency in a girl with the Cohen syndrome. 62 24 57
1999833 1991
33
The Cohen syndrome in Israel. 62 24 57
2432032 1986
34
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. 62 24 57
6705238 1984
35
Cardiac involvement in the Cohen syndrome: a case report. 62 24 57
7438489 1980
36
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. 53 62 57
7920642 1994
37
A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. 24 57
4717588 1973
38
Functional Analysis of a Compound Heterozygous Mutation in the VPS13B Gene in a Chinese Pedigree with Cohen Syndrome. 62 5
33025479 2021
39
Optical coherence tomography findings in Cohen syndrome. 62 5
32919079 2020
40
An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome. 62 5
32505691 2020
41
Ophthalmic features of retinitis pigmentosa in Cohen syndrome caused by pathogenic variants in the VPS13B gene. 62 5
31580008 2020
42
CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. 62 5
30602132 2020
43
Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia. 62 5
30843084 2019
44
Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. 62 5
29758347 2018
45
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. 62 5
29149870 2017
46
The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. 62 5
28631888 2017
47
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. 62 57
26358774 2015
48
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 62 5
26104215 2015
49
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes. 62 5
25271213 2014
50
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. 62 5
22855652 2012

Variations for Cohen Syndrome

ClinVar genetic disease variations for Cohen Syndrome:

5 (show top 50) (show all 3391)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS13B VPS13B, EX6-16DEL DEL Pathogenic
2828 GRCh37:
GRCh38:
2 VPS13B VPS13B, 1-BP DEL, 11564A DEL Pathogenic
2829 GRCh37:
GRCh38:
3 VPS13B VPS13B, EX46-50DEL DEL Pathogenic
2830 GRCh37:
GRCh38:
4 VPS13B NC_000008.11:g.(?_99209572)_(99391724_?)del DEL Pathogenic
528872 GRCh37: 8:100221800-100403952
GRCh38: 8:99209572-99391724
5 VPS13B and overlap with 3 gene(s) NC_000008.11:g.(?_99274178)_(99721067_?)del DEL Pathogenic
528873 GRCh37: 8:100286406-100733295
GRCh38: 8:99274178-99721067
6 VPS13B NC_000008.11:g.(?_99115680)_(99193077_?)del DEL Pathogenic
583454 GRCh37: 8:100127908-100205305
GRCh38: 8:99115680-99193077
7 VPS13B NC_000008.11:g.(?_99096292)_(99193077_?)del DEL Pathogenic
583528 GRCh37: 8:100108520-100205305
GRCh38: 8:99096292-99193077
8 VPS13B NC_000008.11:g.(?_99556430)_(99577653_?)del DEL Pathogenic
640450 GRCh37: 8:100568658-100589881
GRCh38: 8:99556430-99577653
9 VPS13B and overlap with 2 gene(s) NC_000008.11:g.(?_99274178)_(99577653_?)del DEL Pathogenic
657371 GRCh37: 8:100286406-100589881
GRCh38: 8:99274178-99577653
10 VPS13B NC_000008.11:g.(?_99384188)_(99511532_?)del DEL Pathogenic
660699 GRCh37: 8:100396416-100523760
GRCh38: 8:99384188-99511532
11 VPS13B GRCh37/hg19 8q22.2(chr8:100123326-100182391) CN LOSS Pathogenic
813330 GRCh37: 8:100123326-100182391
GRCh38:
12 VPS13B NC_000008.11:g.(?_99520899)_(99584089_?)del DEL Pathogenic
830905 GRCh37: 8:100533127-100596317
GRCh38:
13 VPS13B NC_000008.11:g.(?_99170039)_(99170163_?)del DEL Pathogenic
831433 GRCh37: 8:100182267-100182391
GRCh38:
14 VPS13B NC_000008.11:g.(?_99391557)_(99556653_?)del DEL Pathogenic
831437 GRCh37: 8:100403785-100568881
GRCh38:
15 VPS13B NC_000008.11:g.(?_99135005)_(99143175_?)del DEL Pathogenic
831519 GRCh37: 8:100147233-100155403
GRCh38:
16 VPS13B NC_000008.11:g.(?_99111088)_(99170173_?)del DEL Pathogenic
831638 GRCh37: 8:100123316-100182401
GRCh38:
17 VPS13B NC_000008.11:g.(?_99467404)_(99521020_?)del DEL Pathogenic
832188 GRCh37: 8:100479632-100533248
GRCh38:
18 VPS13B NC_000008.11:g.(?_99556430)_(99642518_?)del DEL Pathogenic
584011 GRCh37: 8:100568658-100654746
GRCh38: 8:99556430-99642518
19 VPS13B and overlap with 3 gene(s) NC_000008.11:g.(?_99431517)_(99721067_?)del DEL Pathogenic
584084 GRCh37: 8:100443745-100733295
GRCh38: 8:99431517-99721067
20 VPS13B and overlap with 2 gene(s) NC_000008.11:g.(?_99096292)_(99577653_?)del DEL Pathogenic
584321 GRCh37: 8:100108520-100589881
GRCh38: 8:99096292-99577653
21 VPS13B NC_000008.11:g.(?_99135015)_(99143165_?)del DEL Pathogenic
832881 GRCh37: 8:100147243-100155393
GRCh38:
22 VPS13B NC_000008.11:g.(?_99121167)_(99721057_?)del DEL Pathogenic
833226 GRCh37: 8:100133395-100733285
GRCh38:
23 VPS13B GRCh37/hg19 8q22.2(chr8:100108619-100160324) CN LOSS Pathogenic
915967 GRCh37: 8:100108619-100160324
GRCh38:
24 VPS13B GRCh37/hg19 8q22.2(chr8:100168626-100298366) CN LOSS Pathogenic
915968 GRCh37: 8:100168626-100298366
GRCh38:
25 VPS13B GRCh37/hg19 8q22.2(chr8:100479441-100545102) CN LOSS Pathogenic
915969 GRCh37: 8:100479441-100545102
GRCh38:
26 VPS13B GRCh37/hg19 8q22.2(chr8:100067471-100156392) CN GAIN Pathogenic
915970 GRCh37: 8:100067471-100156392
GRCh38:
27 VPS13B GRCh37/hg19 8q22.2(chr8:100587642-100712137) CN LOSS Pathogenic
915971 GRCh37: 8:100587642-100712137
GRCh38:
28 VPS13B GRCh37/hg19 8q22.2(chr8:100274176-100477297) CN LOSS Pathogenic
915972 GRCh37: 8:100274176-100477297
GRCh38:
29 VPS13B GRCh37/hg19 8q22.2(chr8:100232749-100493790) CN LOSS Pathogenic
915973 GRCh37: 8:100232749-100493790
GRCh38:
30 VPS13B NC_000008.10:g.(?_100654019)_(100673739_?)del DEL Pathogenic
1068728 GRCh37: 8:100654019-100673739
GRCh38:
31 VPS13B NC_000008.10:g.(?_100778992)_(100779208_?)del DEL Pathogenic
1074672 GRCh37: 8:100778992-100779208
GRCh38:
32 VPS13B NC_000008.10:g.(?_100133395)_(100134000_?)del DEL Pathogenic
1074674 GRCh37: 8:100133395-100134000
GRCh38:
33 VPS13B NC_000008.10:g.(?_100147223)_(100155413_?)del DEL Pathogenic
1074675 GRCh37: 8:100147223-100155413
GRCh38:
34 VPS13B NC_000008.10:g.(?_99346108)_100589843del DEL Pathogenic
1074934 GRCh37:
GRCh38:
35 VPS13B NC_000008.10:g.(?_100479622)_(100533258_?)del DEL Pathogenic
1076762 GRCh37: 8:100479622-100533258
GRCh38:
36 VPS13B NC_000008.10:g.(?_100533117)_(100589871_?)del DEL Pathogenic
1456590 GRCh37: 8:100533117-100589871
GRCh38:
37 VPS13B NC_000008.10:g.(?_100568668)_(100673729_?)del DEL Pathogenic
1456593 GRCh37: 8:100568668-100673729
GRCh38:
38 VPS13B NC_000008.10:g.(?_100205094)_(100287492_?)del DEL Pathogenic
1456587 GRCh37: 8:100205094-100287492
GRCh38:
39 VPS13B NC_000008.10:g.(?_100568668)_(100654736_?)del DEL Pathogenic
1456592 GRCh37: 8:100568668-100654736
GRCh38:
40 VPS13B NC_000008.10:g.(?_100108530)_(100205295_?)del DEL Pathogenic
1456596 GRCh37: 8:100108530-100205295
GRCh38:
41 VPS13B NC_000008.10:g.(?_100403765)_(100403952_?)del DEL Pathogenic
1459877 GRCh37: 8:100403765-100403952
GRCh38:
42 VPS13B NC_000008.10:g.(?_100443755)_(100568891_?)del DEL Pathogenic
1457471 GRCh37: 8:100443755-100568891
GRCh38:
43 VPS13B NC_000008.10:g.(?_100286416)_(100454873_?)del DEL Pathogenic
1454066 GRCh37: 8:100286416-100454873
GRCh38:
44 VPS13B NC_000008.10:g.(?_100123306)_(100182411_?)del DEL Pathogenic
1454078 GRCh37: 8:100123306-100182411
GRCh38:
45 VPS13B NC_000008.10:g.(?_100026017)_(100026183_?)del DEL Pathogenic
1460376 GRCh37: 8:100026017-100026183
GRCh38:
46 VPS13B NC_000008.10:g.100246250_100460500del DEL Pathogenic
1048632 GRCh37: 8:100246250-100460500
GRCh38:
47 VPS13B NC_000008.10:g.(?_100108530)_(100182401_?)del DEL Pathogenic
1459996 GRCh37: 8:100108530-100182401
GRCh38:
48 VPS13B NC_000008.10:g.(?_100205094)_(100221906_?)del DEL Pathogenic
1460178 GRCh37: 8:100205094-100221906
GRCh38:
49 VPS13B NC_000008.10:g.(?_100026017)_(100887894_?)del DEL Pathogenic
1454059 GRCh37: 8:100026017-100887894
GRCh38:
50 VPS13B NC_000008.10:g.(?_100568668)_(100589871_?)del DEL Pathogenic
1350794 GRCh37: 8:100568668-100589871
GRCh38:

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

73
# 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:

6
# 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
Show member pathways
11.4 RAB6C RAB6B RAB6A ITGAM

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 extrinsic component of membrane GO:0019898 9.43 VPS13D VPS13C VPS13A
2 endomembrane system GO:0012505 8.92 SELL RAB6C RAB6B RAB6A

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

# Name GO ID Score Top Affiliating Genes
1 lipid transport GO:0006869 9.92 VPS13A VPS13B VPS13C VPS13D
2 retrograde transport, endosome to Golgi GO:0042147 9.91 RAB6C RAB6B RAB6A
3 mitochondrion organization GO:0007005 9.88 VPS13D VPS13C HAX1
4 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum GO:0006890 9.88 RAB6C RAB6B RAB6A
5 vesicle-mediated transport GO:0016192 9.86 VPS45 VPS13B RAB6B RAB6A JAGN1
6 Golgi to endosome transport GO:0006895 9.76 VPS13C VPS13A
7 protein localization to Golgi membrane GO:1903292 9.67 RAB6B RAB6A
8 intra-Golgi vesicle-mediated transport GO:0006891 9.63 RAB6C RAB6B RAB6A
9 protein targeting to vacuole GO:0006623 9.43 VPS13D VPS13C VPS13A
10 protein retention in Golgi apparatus GO:0045053 9.1 VPS13D VPS13C VPS13A

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

# Name GO ID Score Top Affiliating Genes
1 myosin V binding GO:0031489 8.92 RAB6B RAB6A

Sources for Cohen Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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