MCID: CHN016
MIFTS: 47

Cohen Syndrome

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

Aliases & Classifications for Cohen Syndrome

MalaCards integrated aliases for Cohen Syndrome:

Name: Cohen Syndrome 57 76 24 53 25 75 37 29 13 55 6 40
Pepper Syndrome 57 53 25 75
Hypotonia, Obesity, and Prominent Incisors 57 53 25
Coh1 57 53 75
Prominent Incisors-Obesity-Hypotonia Syndrome 25
Hypotonia-Obesity-Prominent Incisors 75
Obesity-Hypotonia Syndrome 25
Stage 4s Neuroblastoma 73
Muscle Hypotonia 44
Chs1, Formerly 57
Norio Syndrome 25
Chs1 75
Coh 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cohen syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cohen Syndrome

NIH Rare Diseases : 53 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 camera-marugo-cohen syndrome. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include eye, bone and skin, and related phenotypes are pectus excavatum and obesity

Genetics Home Reference : 25 Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features 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 : 57 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 : 75 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 : 76 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William... more...

GeneReviews: NBK1482

Related Diseases for Cohen Syndrome

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

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 29.6 ITGAM SELL
2 camera-marugo-cohen syndrome 12.1
3 salt and pepper syndrome 12.0
4 gay feinmesser cohen syndrome 11.9
5 richieri-costa guion-almeida cohen syndrome 11.8
6 hydrolethalus syndrome 1 11.6
7 salt and pepper developmental regression syndrome 11.5
8 chediak-higashi syndrome 11.3
9 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.0
10 holoprosencephaly, semilobar, with craniosynostosis 11.0
11 deafness nephritis anorectal malformation 11.0
12 ehlers-danlos syndrome, kyphoscoliotic type, 1 10.7
13 shprintzen-goldberg craniosynostosis syndrome 10.6
14 galactosemia 10.6
15 mulibrey nanism 10.6
16 canavan disease 10.6
17 brooks-wisniewski-brown syndrome 10.6
18 pontocerebellar hypoplasia, type 1a 10.6
19 ehlers-danlos syndrome, kyphoscoliotic type, 2 10.6
20 arthrogryposis, mental retardation, and seizures 10.6
21 cutis laxa, autosomal dominant 3 10.6
22 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.6
23 vitamin b12-responsive methylmalonic acidemia 10.6
24 bardet-biedl syndrome 18 10.0 INPP5E VPS13B
25 frontometaphyseal dysplasia 9.9
26 hypotonia 9.9
27 sporotrichosis 9.9
28 diabetes mellitus, noninsulin-dependent 9.9
29 retinopathy, pigmentary, and mental retardation 9.9
30 aging 9.9
31 neutropenia 9.9
32 microcephaly 9.9
33 retinitis 9.9
34 periodontitis 9.9
35 periodontosis 9.8 ITGAM SELL
36 shwartzman phenomenon 9.7 ITGAM SELL
37 acanthosis nigricans 9.7
38 prader-willi syndrome 9.7
39 pulmonary hypertension, primary, 1 9.7
40 rheumatoid arthritis 9.7
41 testicular torsion 9.7
42 autism 9.7
43 cerebellar hypoplasia 9.7
44 asthma 9.7
45 arthritis 9.7
46 diabetes mellitus 9.7
47 leukemia 9.7
48 thrombocytopenia 9.7
49 myopia 9.7
50 synostosis 9.7

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



Diseases related to Cohen Syndrome

Symptoms & Phenotypes for Cohen Syndrome

Symptoms via clinical synopsis from OMIM:

57
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 Face:
short philtrum
facial hypotonia
maxillary hypoplasia
mild micrognathia

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

Head And Neck Nose:
prominent nasal bridge

Cardiovascular Heart:
mitral valve prolapse

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

Human phenotypes related to Cohen Syndrome:

32 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 occasional (7.5%) HP:0000767
2 obesity 32 frequent (33%) HP:0001513
3 genu valgum 32 frequent (33%) HP:0002857
4 finger syndactyly 32 frequent (33%) HP:0006101
5 nystagmus 32 occasional (7.5%) HP:0000639
6 intellectual disability 32 hallmark (90%) HP:0001249
7 seizures 32 occasional (7.5%) HP:0001250
8 muscular hypotonia 32 hallmark (90%) HP:0001252
9 neurological speech impairment 32 hallmark (90%) HP:0002167
10 scoliosis 32 occasional (7.5%) HP:0002650
11 kyphosis 32 occasional (7.5%) HP:0002808
12 gingival overgrowth 32 hallmark (90%) HP:0000212
13 global developmental delay 32 hallmark (90%) HP:0001263
14 pes planus 32 HP:0001763
15 microcephaly 32 hallmark (90%) HP:0000252
16 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
17 visual impairment 32 HP:0000505
18 thick eyebrow 32 hallmark (90%) HP:0000574
19 optic atrophy 32 occasional (7.5%) HP:0000648
20 neonatal hypotonia 32 HP:0001319
21 short stature 32 frequent (33%) HP:0004322
22 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
23 feeding difficulties in infancy 32 frequent (33%) HP:0008872
24 delayed puberty 32 frequent (33%) HP:0000823
25 laryngomalacia 32 HP:0001601
26 micrognathia 32 hallmark (90%) HP:0000347
27 strabismus 32 occasional (7.5%) HP:0000486
28 joint hyperflexibility 32 frequent (33%) HP:0005692
29 abnormality of the hip bone 32 occasional (7.5%) HP:0003272
30 cryptorchidism 32 occasional (7.5%) HP:0000028
31 intrauterine growth retardation 32 frequent (33%) HP:0001511
32 cubitus valgus 32 frequent (33%) HP:0002967
33 failure to thrive in infancy 32 frequent (33%) HP:0001531
34 high, narrow palate 32 hallmark (90%) HP:0002705
35 myopia 32 obligate (100%) HP:0000545
36 reduced visual acuity 32 HP:0007663
37 nyctalopia 32 very rare (1%) HP:0000662
38 prominent nasal bridge 32 hallmark (90%) HP:0000426
39 cerebellar hypoplasia 32 HP:0001321
40 short philtrum 32 hallmark (90%) HP:0000322
41 microphthalmia 32 occasional (7.5%) HP:0000568
42 clinodactyly of the 5th finger 32 frequent (33%) HP:0004209
43 hypoplasia of the maxilla 32 hallmark (90%) HP:0000327
44 arachnodactyly 32 hallmark (90%) HP:0001166
45 joint hypermobility 32 HP:0001382
46 mitral valve prolapse 32 occasional (7.5%) HP:0001634
47 downslanted palpebral fissures 32 hallmark (90%) HP:0000494
48 open mouth 32 hallmark (90%) HP:0000194
49 sandal gap 32 hallmark (90%) HP:0001852
50 ventricular septal defect 32 occasional (7.5%) HP:0001629

Drugs & Therapeutics for Cohen Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555

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:

41
Eye, Bone, Skin, Retina, Tongue, Neutrophil, Brain

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 115)
# Title Authors Year
1
Early photoreceptor outer segment loss and retinoschisis in Cohen syndrome. ( 29634382 )
2018
2
Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. ( 29758347 )
2018
3
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. ( 29149870 )
2017
4
Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21). ( 29264741 )
2017
5
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. ( 26358774 )
2015
6
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. ( 25492866 )
2015
7
Testicular torsion in a patient with Cohen syndrome. ( 26328200 )
2015
8
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. ( 26104215 )
2015
9
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
10
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. ( 25502226 )
2014
11
Cohen syndrome is associated with major glycosylation defects. ( 24334764 )
2014
12
Surgical treatment for kyphoscoliosis in Cohen syndrome. ( 24640185 )
2013
13
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. ( 23557616 )
2013
14
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. ( 23188044 )
2013
15
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. ( 22855652 )
2012
16
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. ( 22233653 )
2012
17
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. ( 21605373 )
2011
18
Ophthalmic findings in the Greek isolate of Cohen syndrome. ( 21344628 )
2011
19
Clinical variability of genetic isolates of Cohen syndrome. ( 21418059 )
2011
20
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. ( 21330571 )
2011
21
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. ( 21865173 )
2011
22
Cohen syndrome diagnosis using whole genome arrays. ( 20921020 )
2011
23
Cohen syndrome - a rare genetic cause of hypotonia in children. ( 21977120 )
2010
24
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. ( 20461111 )
2010
25
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. ( 20683995 )
2010
26
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
27
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. ( 19190672 )
2009
28
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. ( 19006247 )
2009
29
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. ( 20098905 )
2009
30
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. ( 19533689 )
2009
31
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. ( 18564496 )
2008
32
Neuromuscular features in the camera-marugo-cohen syndrome. ( 18344716 )
2008
33
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. ( 18655112 )
2008
34
Enamel microabrasion in an individual with Cohen syndrome. ( 18489660 )
2008
35
High prevalence of Cohen syndrome among Irish travellers. ( 17786118 )
2007
36
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. ( 17383910 )
2007
37
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. ( 17990063 )
2007
38
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. ( 16948945 )
2006
39
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? ( 16488969 )
2006
40
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. ( 16648375 )
2006
41
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. ( 15691367 )
2005
42
Pediatric ophthalmologic findings of Cohen syndrome in twins. ( 15724900 )
2005
43
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. ( 16354227 )
2005
44
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. ( 15793684 )
2005
45
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. ( 15025727 )
2004
46
Cohen syndrome with insulin resistance and seizure. ( 14738954 )
2004
47
The anesthetic management of a patient with Cohen syndrome. ( 15333397 )
2004
48
Cohen syndrome in the Ohio Amish. ( 15211651 )
2004
49
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. ( 15173253 )
2004
50
Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: findings from a study of individuals with Cohen syndrome. ( 15165433 )
2004

Variations for Cohen Syndrome

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

75
# 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 742)
# 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.4471G> T (p.Glu1491Ter) single nucleotide variant Pathogenic rs120074151 GRCh37 Chromosome 8, 100523503: 100523503
8 VPS13B NM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter) single nucleotide variant Pathogenic rs120074151 GRCh38 Chromosome 8, 99511275: 99511275
9 VPS13B NM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter) single nucleotide variant Pathogenic rs120074152 GRCh37 Chromosome 8, 100396522: 100396522
10 VPS13B NM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter) single nucleotide variant Pathogenic rs120074152 GRCh38 Chromosome 8, 99384294: 99384294
11 VPS13B NM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp) single nucleotide variant Pathogenic rs120074153 GRCh37 Chromosome 8, 100796622: 100796622
12 VPS13B NM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp) single nucleotide variant Pathogenic rs120074153 GRCh38 Chromosome 8, 99784394: 99784394
13 VPS13B NM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter) single nucleotide variant Pathogenic rs120074154 GRCh37 Chromosome 8, 100866430: 100866430
14 VPS13B NM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter) single nucleotide variant Pathogenic rs120074154 GRCh38 Chromosome 8, 99854202: 99854202
15 VPS13B NM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs) duplication Pathogenic/Likely pathogenic rs180177329 GRCh37 Chromosome 8, 100836061: 100836061
16 VPS13B NM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs) duplication Pathogenic/Likely pathogenic rs180177329 GRCh38 Chromosome 8, 99823833: 99823833
17 VPS13B NM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr) single nucleotide variant Pathogenic rs120074155 GRCh37 Chromosome 8, 100830701: 100830701
18 VPS13B NM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr) single nucleotide variant Pathogenic rs120074155 GRCh38 Chromosome 8, 99818473: 99818473
19 VPS13B VPS13B, EX6-16DEL deletion Pathogenic
20 VPS13B VPS13B, 1-BP DEL, 11564A deletion Pathogenic
21 VPS13B VPS13B, EX46-50DEL deletion Pathogenic
22 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh37 Chromosome 8, 100861062: 100861063
23 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh38 Chromosome 8, 99848834: 99848835
24 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh37 Chromosome 8, 100865698: 100865698
25 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh38 Chromosome 8, 99853470: 99853470
26 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh37 Chromosome 8, 100866383: 100866386
27 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh38 Chromosome 8, 99854155: 99854158
28 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic rs386834057 GRCh37 Chromosome 8, 100871535: 100871535
29 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic rs386834057 GRCh38 Chromosome 8, 99859307: 99859307
30 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh37 Chromosome 8, 100874009: 100874009
31 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh38 Chromosome 8, 99861781: 99861781
32 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh37 Chromosome 8, 100874053: 100874056
33 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh38 Chromosome 8, 99861825: 99861828
34 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh37 Chromosome 8, 100874100: 100874100
35 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh38 Chromosome 8, 99861872: 99861872
36 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
37 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic rs386834061 GRCh38 Chromosome 8, 99868312: 99868312
38 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh37 Chromosome 8, 100883050: 100883050
39 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh38 Chromosome 8, 99870822: 99870822
40 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh37 Chromosome 8, 100883101: 100883101
41 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh38 Chromosome 8, 99870873: 99870873
42 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh37 Chromosome 8, 100883109: 100883109
43 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh38 Chromosome 8, 99870881: 99870881
44 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh37 Chromosome 8, 100883703: 100883703
45 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh38 Chromosome 8, 99871475: 99871475
46 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh37 Chromosome 8, 100883800: 100883803
47 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh38 Chromosome 8, 99871572: 99871575
48 VPS13B NM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) indel Likely pathogenic rs386834067 GRCh37 Chromosome 8, 100883885: 100883889
49 VPS13B NM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) indel Likely pathogenic rs386834067 GRCh38 Chromosome 8, 99871657: 99871661
50 VPS13B NM_017890.4(VPS13B): c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) deletion Likely pathogenic rs386834069 GRCh37 Chromosome 8, 100887731: 100887740

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 11.02 ITGAM SELL
2 10.49 ITGAM SELL

GO Terms for Cohen Syndrome

Sources for Cohen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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