MCID: CHN016
MIFTS: 48

Cohen Syndrome

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

Aliases & Classifications for Cohen Syndrome

MalaCards integrated aliases for Cohen Syndrome:

Name: Cohen Syndrome 53 72 72 23 49 24 71 36 28 13 51
Pepper Syndrome 53 49 24 71
Hypotonia, Obesity, and Prominent Incisors 53 49 24
Coh1 53 49 71
Prominent Incisors-Obesity-Hypotonia Syndrome 24
Hypotonia-Obesity-Prominent Incisors 71
Obesity-Hypotonia Syndrome 24
Stage 4s Neuroblastoma 69
Muscle Hypotonia 41
Chs1, Formerly 53
Norio Syndrome 24
Chs1 71
Coh 53

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
cohen syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cohen Syndrome

NIH Rare Diseases : 49 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. Last updated: 3/21/2013

MalaCards based summary : Cohen Syndrome, also known as pepper syndrome, is related to granulocytopenia and camera-marugo-cohen syndrome, and has symptoms including seizures, pectus excavatum and obesity. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, bone and skin.

OMIM : 53 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 : 71 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.

Genetics Home Reference : 24 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.

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 69)
# Related Disease Score Top Affiliating Genes
1 granulocytopenia 29.5 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 11.9
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 marfanoid habitus-autosomal recessive intellectual disability syndrome 10.6
22 vitamin b12-responsive methylmalonic acidemia 10.6
23 bardet-biedl syndrome 18 10.1 INPP5E VPS13B
24 sporotrichosis 9.9
25 frontometaphyseal dysplasia 9.9
26 hypotonia 9.9
27 retinopathy, pigmentary, and mental retardation 9.8
28 body mass index quantitative trait locus 11 9.8
29 aging 9.8
30 body mass index quantitative trait locus 9 9.8
31 body mass index quantitative trait locus 8 9.8
32 body mass index quantitative trait locus 4 9.8
33 body mass index quantitative trait locus 10 9.8
34 body mass index quantitative trait locus 7 9.8
35 body mass index quantitative trait locus 12 9.8
36 body mass index quantitative trait locus 14 9.8
37 body mass index quantitative trait locus 18 9.8
38 neutropenia 9.8
39 microcephaly 9.8
40 retinitis 9.8
41 periodontitis 9.8
42 periodontosis 9.7 ITGAM SELL
43 fundus dystrophy 9.7 INPP5E VPS13B
44 shwartzman phenomenon 9.7 ITGAM SELL
45 acanthosis nigricans 9.7
46 prader-willi syndrome 9.7
47 pulmonary hypertension, primary, 1 9.7
48 rheumatoid arthritis 9.7
49 testicular torsion 9.7
50 autism 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:

53
Neurologic Central Nervous System:
seizures
cerebellar hypoplasia
hypotonia
mental retardation
delayed motor milestones
more
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

Skeletal Limbs:
genu valgum
cubitus valgus
joint hyperextensibility

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:

31 (show top 50) (show all 86)
# Description HPO Frequency HPO Source Accession
1 seizures 31 occasional (7.5%) HP:0001250
2 pectus excavatum 31 occasional (7.5%) HP:0000767
3 obesity 31 frequent (33%) HP:0001513
4 genu valgum 31 frequent (33%) HP:0002857
5 finger syndactyly 31 frequent (33%) HP:0006101
6 nystagmus 31 occasional (7.5%) HP:0000639
7 intellectual disability 31 hallmark (90%) HP:0001249
8 muscular hypotonia 31 hallmark (90%) HP:0001252
9 neurological speech impairment 31 hallmark (90%) HP:0002167
10 scoliosis 31 occasional (7.5%) HP:0002650
11 kyphosis 31 occasional (7.5%) HP:0002808
12 gingival overgrowth 31 hallmark (90%) HP:0000212
13 global developmental delay 31 hallmark (90%) HP:0001263
14 pes planus 31 HP:0001763
15 microcephaly 31 hallmark (90%) HP:0000252
16 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
17 visual impairment 31 HP:0000505
18 thick eyebrow 31 hallmark (90%) HP:0000574
19 optic atrophy 31 occasional (7.5%) HP:0000648
20 neonatal hypotonia 31 HP:0001319
21 short stature 31 frequent (33%) HP:0004322
22 abnormality of retinal pigmentation 31 occasional (7.5%) HP:0007703
23 feeding difficulties in infancy 31 frequent (33%) HP:0008872
24 delayed puberty 31 frequent (33%) HP:0000823
25 laryngomalacia 31 HP:0001601
26 micrognathia 31 hallmark (90%) HP:0000347
27 strabismus 31 occasional (7.5%) HP:0000486
28 joint hyperflexibility 31 frequent (33%) HP:0005692
29 abnormality of the hip bone 31 occasional (7.5%) HP:0003272
30 cryptorchidism 31 occasional (7.5%) HP:0000028
31 intrauterine growth retardation 31 frequent (33%) HP:0001511
32 cubitus valgus 31 frequent (33%) HP:0002967
33 failure to thrive in infancy 31 frequent (33%) HP:0001531
34 high, narrow palate 31 hallmark (90%) HP:0002705
35 myopia 31 obligate (100%) HP:0000545
36 reduced visual acuity 31 HP:0007663
37 nyctalopia 31 occasional (7.5%) HP:0000662
38 prominent nasal bridge 31 hallmark (90%) HP:0000426
39 cerebellar hypoplasia 31 HP:0001321
40 short philtrum 31 hallmark (90%) HP:0000322
41 microphthalmia 31 occasional (7.5%) HP:0000568
42 clinodactyly of the 5th finger 31 frequent (33%) HP:0004209
43 hypoplasia of the maxilla 31 hallmark (90%) HP:0000327
44 arachnodactyly 31 hallmark (90%) HP:0001166
45 joint hypermobility 31 HP:0001382
46 mitral valve prolapse 31 occasional (7.5%) HP:0001634
47 downslanted palpebral fissures 31 hallmark (90%) HP:0000494
48 open mouth 31 hallmark (90%) HP:0000194
49 sandal gap 31 hallmark (90%) HP:0001852
50 ventricular septal defect 31 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 28 VPS13B

Anatomical Context for Cohen Syndrome

MalaCards organs/tissues related to Cohen Syndrome:

38
Eye, Bone, Skin, Retina, Tongue, Neutrophil, Brain

Publications for Cohen Syndrome

Articles related to Cohen Syndrome:

(show top 50) (show all 113)
# Title Authors Year
1
Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21). ( 29264741 )
2017
2
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. ( 29149870 )
2017
3
Testicular torsion in a patient with Cohen syndrome. ( 26328200 )
2015
4
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. ( 26104215 )
2015
5
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. ( 25492866 )
2015
6
Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. ( 26358774 )
2015
7
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. ( 25502226 )
2014
8
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). ( 24803775 )
2014
9
Cohen syndrome is associated with major glycosylation defects. ( 24334764 )
2014
10
Surgical treatment for kyphoscoliosis in Cohen syndrome. ( 24640185 )
2013
11
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. ( 23188044 )
2013
12
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. ( 23557616 )
2013
13
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. ( 22855652 )
2012
14
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. ( 22233653 )
2012
15
Clinical variability of genetic isolates of Cohen syndrome. ( 21418059 )
2011
16
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. ( 21865173 )
2011
17
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. ( 21605373 )
2011
18
Cohen syndrome diagnosis using whole genome arrays. ( 20921020 )
2011
19
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. ( 21330571 )
2011
20
Ophthalmic findings in the Greek isolate of Cohen syndrome. ( 21344628 )
2011
21
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
22
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. ( 20683995 )
2010
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
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. ( 20098905 )
2009
26
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. ( 19190672 )
2009
27
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. ( 19533689 )
2009
28
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. ( 19006247 )
2009
29
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. ( 18564496 )
2008
30
Neuromuscular features in the camera-marugo-cohen syndrome. ( 18344716 )
2008
31
Enamel microabrasion in an individual with Cohen syndrome. ( 18489660 )
2008
32
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. ( 18655112 )
2008
33
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. ( 17383910 )
2007
34
High prevalence of Cohen syndrome among Irish travellers. ( 17786118 )
2007
35
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. ( 17990063 )
2007
36
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. ( 16948945 )
2006
37
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? ( 16488969 )
2006
38
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. ( 16648375 )
2006
39
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. ( 15793684 )
2005
40
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. ( 16354227 )
2005
41
Pediatric ophthalmologic findings of Cohen syndrome in twins. ( 15724900 )
2005
42
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. ( 15691367 )
2005
43
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. ( 15025727 )
2004
44
Cohen syndrome with insulin resistance and seizure. ( 14738954 )
2004
45
The anesthetic management of a patient with Cohen syndrome. ( 15333397 )
2004
46
Cohen syndrome in the Ohio Amish. ( 15211651 )
2004
47
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
48
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. ( 15154116 )
2004
49
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. ( 15141358 )
2004
50
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. ( 15173253 )
2004

Variations for Cohen Syndrome

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

71
# 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 197)
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS13B NM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs) deletion Likely pathogenic rs386834054 GRCh37 Chromosome 8, 100861062: 100861063
2 VPS13B NM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs) duplication Pathogenic/Likely pathogenic rs386834055 GRCh37 Chromosome 8, 100865698: 100865698
3 VPS13B NM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs) deletion Likely pathogenic rs386834056 GRCh37 Chromosome 8, 100866383: 100866386
4 VPS13B NM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834057 GRCh37 Chromosome 8, 100871535: 100871535
5 VPS13B NM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs) deletion Likely pathogenic rs386834058 GRCh37 Chromosome 8, 100874009: 100874009
6 VPS13B NM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs) duplication Likely pathogenic rs386834059 GRCh37 Chromosome 8, 100874053: 100874056
7 VPS13B NM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter) single nucleotide variant Likely pathogenic rs386834060 GRCh37 Chromosome 8, 100874100: 100874100
8 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
9 VPS13B NM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs) deletion Likely pathogenic rs386834062 GRCh37 Chromosome 8, 100883050: 100883050
10 VPS13B NM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs) duplication Likely pathogenic rs386834063 GRCh37 Chromosome 8, 100883101: 100883101
11 VPS13B NM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs) deletion Likely pathogenic rs386834064 GRCh37 Chromosome 8, 100883109: 100883109
12 VPS13B NM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs) deletion Likely pathogenic rs386834065 GRCh37 Chromosome 8, 100883703: 100883703
13 VPS13B NM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs) deletion Likely pathogenic rs386834066 GRCh37 Chromosome 8, 100883800: 100883803
14 VPS13B NM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys) indel Likely pathogenic rs386834067 GRCh37 Chromosome 8, 100883885: 100883889
15 VPS13B NM_017890.4(VPS13B): c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs) deletion Likely pathogenic rs386834069 GRCh37 Chromosome 8, 100887731: 100887740
16 VPS13B NM_017890.4(VPS13B): c.11907dupC (p.Ser3970Glnfs) duplication Pathogenic/Likely pathogenic rs180177374 GRCh37 Chromosome 8, 100887732: 100887732
17 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
18 VPS13B NM_017890.4(VPS13B): c.1225G> T (p.Glu409Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834071 GRCh37 Chromosome 8, 100146878: 100146878
19 VPS13B NM_017890.4(VPS13B): c.1269_1273delATTGT (p.Cys425Glyfs) deletion Likely pathogenic rs386834072 GRCh37 Chromosome 8, 100146922: 100146926
20 VPS13B NM_017890.4(VPS13B): c.1844-2A> G single nucleotide variant Likely pathogenic rs386834073 GRCh37 Chromosome 8, 100160067: 100160067
21 VPS13B NM_017890.4(VPS13B): c.2047delC (p.Gln683Serfs) deletion Likely pathogenic rs386834074 GRCh37 Chromosome 8, 100168810: 100168810
22 VPS13B NM_017890.4(VPS13B): c.2074C> T (p.Arg692Ter) single nucleotide variant Pathogenic/Likely pathogenic rs180177356 GRCh37 Chromosome 8, 100168837: 100168837
23 VPS13B NM_017890.4(VPS13B): c.219_220delACinsT (p.Lys73Asnfs) indel Likely pathogenic rs386834075 GRCh37 Chromosome 8, 100050722: 100050723
24 VPS13B NM_017890.4(VPS13B): c.22_23delCCinsA (p.Pro8Lysfs) indel Likely pathogenic rs386834076 GRCh37 Chromosome 8, 100026038: 100026039
25 VPS13B NM_017890.4(VPS13B): c.2651-1G> A single nucleotide variant Likely pathogenic rs386834077 GRCh37 Chromosome 8, 100287308: 100287308
26 VPS13B NM_017890.4(VPS13B): c.2727_2730dupGCTC (p.Asn911Alafs) duplication Pathogenic/Likely pathogenic rs180177357 GRCh37 Chromosome 8, 100287385: 100287388
27 VPS13B NM_017890.4(VPS13B): c.2889G> A (p.Trp963Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834078 GRCh37 Chromosome 8, 100396500: 100396500
28 VPS13B NM_017890.4(VPS13B): c.292-2A> G single nucleotide variant Likely pathogenic rs386834079 GRCh37 Chromosome 8, 100108538: 100108538
29 VPS13B NM_017890.4(VPS13B): c.2934+1_2934+2delGT deletion Pathogenic/Likely pathogenic rs180177358 GRCh37 Chromosome 8, 100396546: 100396547
30 VPS13B NM_017890.4(VPS13B): c.3427C> T (p.Arg1143Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834080 GRCh37 Chromosome 8, 100454845: 100454845
31 VPS13B NM_017890.4(VPS13B): c.3618T> A (p.Cys1206Ter) single nucleotide variant Likely pathogenic rs386834081 GRCh37 Chromosome 8, 100479814: 100479814
32 VPS13B NM_017890.4(VPS13B): c.3666+2T> C single nucleotide variant Likely pathogenic rs386834082 GRCh37 Chromosome 8, 100479864: 100479864
33 VPS13B NM_017890.4(VPS13B): c.404dupT (p.Leu135Phefs) duplication Likely pathogenic rs386834083 GRCh37 Chromosome 8, 100108652: 100108652
34 VPS13B NM_017890.4(VPS13B): c.4334delA (p.Gln1445Argfs) deletion Likely pathogenic rs386834084 GRCh37 Chromosome 8, 100523366: 100523366
35 VPS13B NM_017890.4(VPS13B): c.4396dupA (p.Thr1466Asnfs) duplication Likely pathogenic rs386834085 GRCh37 Chromosome 8, 100523428: 100523428
36 VPS13B NM_017890.4(VPS13B): c.4411C> T (p.Arg1471Ter) single nucleotide variant Likely pathogenic rs386834086 GRCh37 Chromosome 8, 100523443: 100523443
37 VPS13B NM_017890.4(VPS13B): c.4474delA (p.Ile1492Phefs) deletion Likely pathogenic rs386834087 GRCh37 Chromosome 8, 100523506: 100523506
38 VPS13B NM_017890.4(VPS13B): c.4480_4482delCTT (p.Leu1494del) deletion Likely pathogenic rs386834088 GRCh37 Chromosome 8, 100523512: 100523514
39 VPS13B NM_017890.4(VPS13B): c.4572dupA (p.Glu1525Argfs) duplication Likely pathogenic rs386834089 GRCh37 Chromosome 8, 100523604: 100523604
40 VPS13B NM_017890.4(VPS13B): c.467_470delATAA (p.Asn156Ilefs) deletion Likely pathogenic rs386834090 GRCh37 Chromosome 8, 100115235: 100115238
41 VPS13B NM_017890.4(VPS13B): c.4820+2T> C single nucleotide variant Likely pathogenic rs386834091 GRCh37 Chromosome 8, 100533240: 100533240
42 VPS13B NM_017890.4(VPS13B): c.4878_4880dupATA (p.Tyr1627_Gln1961delinsTer) duplication Pathogenic/Likely pathogenic rs180177359 GRCh37 Chromosome 8, 100568735: 100568737
43 VPS13B NM_017890.4(VPS13B): c.5215_5232del18 (p.Ser1739_Gln1744del) deletion Pathogenic/Likely pathogenic rs180177362 GRCh37 Chromosome 8, 100589781: 100589798
44 VPS13B NM_017890.4(VPS13B): c.5331dupT (p.Asp1778Terfs) duplication Likely pathogenic rs386834094 GRCh37 Chromosome 8, 100654074: 100654074
45 VPS13B NM_017890.4(VPS13B): c.5426_5427dupAG (p.Gln1810Serfs) duplication Pathogenic/Likely pathogenic rs180177363 GRCh37 Chromosome 8, 100654169: 100654170
46 VPS13B NM_017890.4(VPS13B): c.5461dupC (p.Arg1821Profs) duplication Pathogenic/Likely pathogenic rs180177364 GRCh37 Chromosome 8, 100654204: 100654204
47 VPS13B NM_017890.4(VPS13B): c.5613_5614insT (p.Lys1872Terfs) insertion Likely pathogenic rs386834095 GRCh37 Chromosome 8, 100654356: 100654357
48 VPS13B NM_017890.4(VPS13B): c.5737dupA (p.Ile1913Asnfs) duplication Likely pathogenic rs386834096 GRCh37 Chromosome 8, 100654480: 100654480
49 VPS13B NM_017890.4(VPS13B): c.5750delC (p.Ser1917Phefs) deletion Likely pathogenic rs386834097 GRCh37 Chromosome 8, 100654493: 100654493
50 VPS13B NM_017890.4(VPS13B): c.5809_5810delAT (p.Ile1937Cysfs) deletion Likely pathogenic rs386834098 GRCh37 Chromosome 8, 100654552: 100654553

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 11.32 ITGAM SELL
2 11.02 ITGAM SELL
3 10.49 ITGAM SELL

GO Terms for Cohen Syndrome

Sources for Cohen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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