COH1
MCID: CHN016
MIFTS: 50

Cohen Syndrome (COH1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Blood diseases, Metabolic diseases categories
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Summaries for Cohen Syndrome

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NIH Rare Diseases:42 Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by dr. m.m. cohen, jr. when the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. since cohen syndrome was first described, over 100 cases have been reported worldwide. it is now known that the signs and symptoms present in people with cohen syndrome may vary considerably. although the exact cause of cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called coh1 (also referred to as vps13b). when cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. no cure is currently available; however, treatment for cohen syndrome is focused on improving or alleviating signs and symptoms as they arise. last updated: 3/21/2013

MalaCards based summary: Cohen Syndrome, also known as pepper syndrome, is related to camera marugo cohen syndrome and gay feinmesser cohen syndrome, and has symptoms including microcephaly, low hair line-front and downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures. An important gene associated with Cohen Syndrome is VPS13B (vacuolar protein sorting 13 homolog B (yeast)). Affiliated tissues include eye, bone and testes.

Genetics Home Reference:21 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 include progressive nearsightedness (myopia), 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. Characteristic facial features 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 appearance.

Wikipedia:65 Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William... more...

Description from OMIM:46 216550

GeneReviews summary for cohen

Aliases & Classifications for Cohen Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cohen Syndrome, Aliases & Descriptions:

Name: Cohen Syndrome 19 42 20 22 21 46 44 48 62
Pepper Syndrome 42 21
Prominent Incisors-Obesity-Hypotonia Syndrome 21
Hypotonia, Obesity, and Prominent Incisors 21
 
Obesity-Hypotonia Syndrome 21
Pepper's Syndrome 62
Norio Syndrome 21
Coh1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
cohen syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 216550
MESH via Orphanet35 C536438
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0265223

Related Diseases for Cohen Syndrome

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



Diseases related to cohen syndrome

Symptoms for Cohen Syndrome

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Symptoms by clinical synopsis from OMIM:

216550

Clinical features from OMIM:

216550

Symptoms:

48 (show all 61)
  • microcephaly
  • low hair line-front
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • retinal/chorioretinal dysplasia/dystrophy
  • myopia
  • thick/bushy eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • long/thick/curved lashes/trichomegaly/polytrichia
  • high nasal bridge
  • mouth held open
  • short philtrum
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • thickened/hypertrophic/fibromatous gingivae
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • anodontia/oligodontia/hypodontia
  • long hand/arachnodactyly
  • tapered fingers
  • long foot/arachnodactyly of toes
  • wide space between 1st-2nd toes
  • motor deficit/trouble
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • complete/partial macrodontia
  • cubitus valgus
  • anomalies of hands
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • genu valgum
  • coarse/thick hair
  • abnormal cry/voice/phonation disorder/nasal speech
  • late puberty/hypogonadism/hypogenitalism
  • hyperextensible joints/articular hyperlaxity
  • generalized obesity
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • fetal immobility/abnormal fetal movements
  • intrauterine growth retardation
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • coloboma of iris
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • strabismus/squint
  • nystagmus
  • small/hypoplastic/adherent/absent ear lobe
  • preauricular/branchial tags/appendages
  • sensorineural deafness/hearing loss
  • pectus excavatum
  • kyphosis
  • scoliosis
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • ventricular septal defect/interventricular communication
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana

HPO human phenotypes related to Cohen Syndrome:

(show all 98)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 open mouth hallmark (90%) HP:0000194
3 gingival overgrowth hallmark (90%) HP:0000212
4 microcephaly hallmark (90%) HP:0000252
5 low anterior hairline hallmark (90%) HP:0000294
6 short philtrum hallmark (90%) HP:0000322
7 micrognathia hallmark (90%) HP:0000347
8 prominent nasal bridge hallmark (90%) HP:0000426
9 downslanted palpebral fissures hallmark (90%) HP:0000494
10 abnormality of the eyelashes hallmark (90%) HP:0000499
11 chorioretinal abnormality hallmark (90%) HP:0000532
12 myopia hallmark (90%) HP:0000545
13 thick eyebrow hallmark (90%) HP:0000574
14 arachnodactyly hallmark (90%) HP:0001166
15 tapered finger hallmark (90%) HP:0001182
16 muscular hypotonia hallmark (90%) HP:0001252
17 sandal gap hallmark (90%) HP:0001852
18 abnormality of neutrophils hallmark (90%) HP:0001874
19 neurological speech impairment hallmark (90%) HP:0002167
20 reduced number of teeth hallmark (90%) HP:0009804
21 aplasia/hypoplasia of the tongue hallmark (90%) HP:0010295
22 long toe hallmark (90%) HP:0010511
23 cheekbone underdevelopment hallmark (90%) HP:0010669
24 cognitive impairment hallmark (90%) HP:0100543
25 joint hypermobility typical (50%) HP:0001382
26 intrauterine growth retardation typical (50%) HP:0001511
27 obesity typical (50%) HP:0001513
28 prenatal movement abnormality typical (50%) HP:0001557
29 macrodontia typical (50%) HP:0001572
30 abnormality of the voice typical (50%) HP:0001608
31 coarse hair typical (50%) HP:0002208
32 genu valgum typical (50%) HP:0002857
33 cubitus valgus typical (50%) HP:0002967
34 clinodactyly of the 5th finger typical (50%) HP:0004209
35 short stature typical (50%) HP:0004322
36 finger syndactyly typical (50%) HP:0006101
37 cryptorchidism occasional (7.5%) HP:0000028
38 preauricular skin tag occasional (7.5%) HP:0000384
39 sensorineural hearing impairment occasional (7.5%) HP:0000407
40 strabismus occasional (7.5%) HP:0000486
41 iris coloboma occasional (7.5%) HP:0000612
42 nystagmus occasional (7.5%) HP:0000639
43 optic atrophy occasional (7.5%) HP:0000648
44 pectus excavatum occasional (7.5%) HP:0000767
45 seizures occasional (7.5%) HP:0001250
46 ventricular septal defect occasional (7.5%) HP:0001629
47 abnormality of the mitral valve occasional (7.5%) HP:0001633
48 scoliosis occasional (7.5%) HP:0002650
49 kyphosis occasional (7.5%) HP:0002808
50 abnormality of the hip bone occasional (7.5%) HP:0003272
51 abnormal retinal pigmentation occasional (7.5%) HP:0007703
52 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
53 aplasia/hypoplasia of the earlobes occasional (7.5%) HP:0009906
54 autosomal recessive inheritance HP:0000007
55 open mouth HP:0000194
56 microcephaly HP:0000252
57 facial hypotonia HP:0000297
58 short philtrum HP:0000322
59 hypoplasia of the maxilla HP:0000327
60 micrognathia HP:0000347
61 prominent nasal bridge HP:0000426
62 convex nasal ridge HP:0000444
63 downslanted palpebral fissures HP:0000494
64 visual impairment HP:0000505
65 myopia HP:0000545
66 thick eyebrow HP:0000574
67 optic atrophy HP:0000648
68 macrodontia of permanent maxillary central incisor HP:0000675
69 delayed puberty HP:0000823
70 growth hormone deficiency HP:0000824
71 single transverse palmar crease HP:0000954
72 chorioretinal dystrophy HP:0001135
73 tapered finger HP:0001182
74 intellectual disability HP:0001249
75 seizures HP:0001250
76 motor delay HP:0001270
77 neonatal hypotonia HP:0001319
78 cerebellar hypoplasia HP:0001321
79 joint hypermobility HP:0001382
80 small for gestational age HP:0001518
81 laryngomalacia HP:0001601
82 mitral valve prolapse HP:0001634
83 pes planus HP:0001763
84 neutropenia HP:0001875
85 leukopenia HP:0001882
86 high, narrow palate HP:0002705
87 genu valgum HP:0002857
88 lumbar hyperlordosis HP:0002938
89 thoracic scoliosis HP:0002943
90 cubitus valgus HP:0002967
91 narrow palm HP:0004283
92 narrow palm HP:0004283
93 short stature HP:0004322
94 thick corpus callosum HP:0007074
95 feeding difficulties in infancy HP:0008872
96 childhood-onset truncal obesity HP:0008915
97 short metacarpal HP:0010049
98 short metatarsal HP:0010743

Drugs & Therapeutics for Cohen Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cohen Syndrome

Search NIH Clinical Center for Cohen Syndrome

Genetic Tests for Cohen Syndrome

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Genetic tests related to Cohen Syndrome:

id Genetic test Affiliating Genes
1 Cohen Syndrome20 22 VPS13B

Anatomical Context for Cohen Syndrome

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MalaCards organs/tissues related to Cohen Syndrome:

32
Eye, Bone, Testes, Neutrophil, Tongue, Brain, Retina

Animal Models for Cohen Syndrome or affiliated genes

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Publications for Cohen Syndrome

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Articles related to Cohen Syndrome:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). (24803775)
2014
2
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. (23557616)
2013
3
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. (22233653)
2012
4
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. (21605373)
2011
5
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
6
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
7
Cohen syndrome - a rare genetic cause of hypotonia in children. (21977120)
2010
8
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. (19190672)
2009
9
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. (20098905)
2009
10
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (18655112)
2008
11
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. (17383910)
2007
12
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
2005
13
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
2005
14
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. (16354227)
2005
15
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. (15691367)
2005
16
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. (15141358)
2004
17
Cohen syndrome with insulin resistance and seizure. (14738954)
2004
18
The anesthetic management of a patient with Cohen syndrome. (15333397)
2004
19
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. (15173253)
2004
20
Cohen syndrome in the Ohio Amish. (15211651)
2004
21
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (12676892)
2003
22
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
23
Neuropsychological assessment of a group of UK patients with Cohen syndrome. (12690562)
2003
24
Cohen syndrome and rheumatoid arthritis. (12017242)
2002
25
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
26
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. (11980891)
2002
27
Does a Jewish type of Cohen syndrome truly exist? (12210312)
2002
28
Cohen syndrome with acanthosis nigricans and insulin resistance. (11453534)
2001
29
Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. (11754073)
2001
30
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. (10842298)
2000
31
The Camera-Marugo-Cohen syndrome: report of two new patients. (10482867)
1999
32
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. (9825573)
1998
33
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. (9803437)
1998
34
Cohen syndrome with high urinary excretion of hyaluronic acid. (9556296)
1998
35
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. (10029348)
1998
36
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
37
Identical twins with Cohen syndrome. (7573157)
1995
38
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (7920642)
1994
39
Cohen syndrome is neither uncommon nor new. (7856650)
1994
40
Cohen Syndrome (20301655)
1993
41
Cohen syndrome: fertility in a female patient. (1778007)
1991
42
Growth hormone deficiency in a girl with the Cohen syndrome. (1999833)
1991
43
The Cohen syndrome. Retinal lesions and granulocytopenia. (2348983)
1990
44
Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. (1981180)
1990
45
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). (2260606)
1990
46
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? (3096139)
1986
47
Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? (6713711)
1984
48
Sexual development in a girl with Cohen syndrome. (7086576)
1982
49
Cardiac involvement in the Cohen syndrome: a case report. (7438489)
1980
50
Confirmation of the Cohen syndrome. (671157)
1978

Variations for Cohen Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1VPS13Bp.Tyr2341CysVAR_038422
2VPS13Bp.Gly2645AspVAR_038423
3VPS13Bp.Asn2993SerVAR_038424rs28940272
4VPS13Bp.Ser2773LeuVAR_058754
5VPS13Bp.Ile2820ThrVAR_058755

Clinvar genetic disease variations for Cohen Syndrome:

6 (show all 91)
id Gene Name Type Significance SNP ID Assembly Location
1VPS13BNM_017890.4(VPS13B): c.5983+2dupTduplicationPathogenicGRCh37Chr 8, 100654728: 100654728
2VPS13BNM_017890.4(VPS13B): c.11119+2T> Csingle nucleotide variantPathogenicGRCh37Chr 8, 100871710: 100871710
3VPS13BNM_017890.4(VPS13B): c.3348_3349delCT (p.Cys1117Phefs)deletionPathogenicrs180177327GRCh37Chr 8, 100454766: 100454767
4VPS13BNM_017890.4(VPS13B): c.6578T> G (p.Leu2193Arg)single nucleotide variantPathogenicrs120074149GRCh37Chr 8, 100729447: 100729447
5VPS13BNM_017890.4(VPS13B): c.7051C> T (p.Arg2351Ter)single nucleotide variantPathogenicrs120074150GRCh37Chr 8, 100733201: 100733201
6VPS13BNM_017890.4(VPS13B): c.8978A> G (p.Asn2993Ser)single nucleotide variantPathogenicrs28940272GRCh37Chr 8, 100832259: 100832259
7VPS13BNM_017890.4(VPS13B): c.4471G> T (p.Glu1491Ter)single nucleotide variantPathogenicrs120074151GRCh37Chr 8, 100523503: 100523503
8VPS13BNM_017890.4(VPS13B): c.2911C> T (p.Arg971Ter)single nucleotide variantPathogenicrs120074152GRCh37Chr 8, 100396522: 100396522
9VPS13BNM_017890.4(VPS13B): c.7934G> A (p.Gly2645Asp)single nucleotide variantPathogenicrs120074153GRCh37Chr 8, 100796622: 100796622
10VPS13BNM_017890.4(VPS13B): c.10888C> T (p.Gln3630Ter)single nucleotide variantPathogenicrs120074154GRCh37Chr 8, 100866430: 100866430
11VPS13BNM_017890.4(VPS13B): c.9260dupT (p.Leu3087Phefs)duplicationLikely pathogenicrs386834118GRCh37Chr 8, 100836061: 100836062
12VPS13BNM_017890.4(VPS13B): c.8459T> C (p.Ile2820Thr)single nucleotide variantPathogenicrs120074155GRCh37Chr 8, 100830701: 100830701
13VPS13BVPS13B, EX6-16DELdeletionPathogenic
14VPS13BVPS13B, 1-BP DEL, 11564AdeletionPathogenic
15VPS13BVPS13B, EX46-50DELdeletionPathogenic
16VPS13BNM_017890.4(VPS13B): c.10076_10077delCA (p.Thr3359Serfs)deletionLikely pathogenicrs386834054GRCh37Chr 8, 100861062: 100861063
17VPS13BNM_017890.4(VPS13B): c.10156dupA (p.Thr3386Asnfs)duplicationLikely pathogenicrs386834055GRCh37Chr 8, 100865698: 100865699
18VPS13BNM_017890.4(VPS13B): c.10841_10844delTCTC (p.Leu3614Profs)deletionLikely pathogenicrs386834056GRCh37Chr 8, 100866383: 100866386
19VPS13BNM_017890.4(VPS13B): c.10946G> A (p.Trp3649Ter)single nucleotide variantLikely pathogenicrs386834057GRCh37Chr 8, 100871535: 100871535
20VPS13BNM_017890.4(VPS13B): c.11125delC (p.Leu3709Serfs)deletionLikely pathogenicrs386834058GRCh37Chr 8, 100874009: 100874009
21VPS13BNM_017890.4(VPS13B): c.11169_11172dupGGAC (p.Arg3725Glyfs)duplicationLikely pathogenicrs386834059GRCh37Chr 8, 100874053: 100874056
22VPS13BNM_017890.4(VPS13B): c.11216G> A (p.Trp3739Ter)single nucleotide variantLikely pathogenicrs386834060GRCh37Chr 8, 100874100: 100874100
23VPS13BNM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter)single nucleotide variantLikely pathogenicrs386834061GRCh37Chr 8, 100880540: 100880540
24VPS13BNM_017890.4(VPS13B): c.11505delA (p.Lys3835Asnfs)deletionLikely pathogenicrs386834062GRCh37Chr 8, 100883050: 100883050
25VPS13BNM_017890.4(VPS13B): c.11556dupT (p.Val3853Cysfs)duplicationLikely pathogenicrs386834063GRCh37Chr 8, 100883101: 100883102
26VPS13BNM_017890.4(VPS13B): c.11564delA (p.Tyr3855Leufs)deletionLikely pathogenicrs386834064GRCh37Chr 8, 100883109: 100883109
27VPS13BNM_017890.4(VPS13B): c.11598delA (p.Glu3867Lysfs)deletionLikely pathogenicrs386834065GRCh37Chr 8, 100883703: 100883703
28VPS13BNM_017890.4(VPS13B): c.11695_11698delAGTG (p.Ser3901Argfs)deletionLikely pathogenicrs386834066GRCh37Chr 8, 100883800: 100883803
29VPS13BNM_017890.4(VPS13B): c.11780_11784delCAGTGinsAA (p.Thr3927_Val3928delinsLys)indelLikely pathogenicrs386834067GRCh37Chr 8, 100883885: 100883889
30VPS13BNM_017890.4(VPS13B): c.11825_11827dupATG (p.Asp3942_Gly3943insAsp)duplicationLikely pathogenicrs386834068GRCh37Chr 8, 100887650: 100887652
31VPS13BNM_017890.4(VPS13B): c.11906_11915delCCAGCTGTTC (p.Pro3969Leufs)deletionLikely pathogenicrs386834069GRCh37Chr 8, 100887731: 100887740
32VPS13BNM_017890.4(VPS13B): c.11907dupC (p.Ser3970Glnfs)duplicationLikely pathogenicrs180177374GRCh37Chr 8, 100887732: 100887733
33VPS13BNM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter)single nucleotide variantLikely pathogenicrs386834070GRCh37Chr 8, 100146872: 100146872
34VPS13BNM_017890.4(VPS13B): c.1225G> T (p.Glu409Ter)single nucleotide variantLikely pathogenicrs386834071GRCh37Chr 8, 100146878: 100146878
35VPS13BNM_017890.4(VPS13B): c.1269_1273delATTGT (p.Cys425Glyfs)deletionLikely pathogenicrs386834072GRCh37Chr 8, 100146922: 100146926
36VPS13BNM_017890.4(VPS13B): c.1844-2A> Gsingle nucleotide variantLikely pathogenicrs386834073GRCh37Chr 8, 100160067: 100160067
37VPS13BNM_017890.4(VPS13B): c.2047delC (p.Gln683Serfs)deletionLikely pathogenicrs386834074GRCh37Chr 8, 100168810: 100168810
38VPS13BNM_017890.4(VPS13B): c.2074C> T (p.Arg692Ter)single nucleotide variantLikely pathogenicrs180177356GRCh37Chr 8, 100168837: 100168837
39VPS13BNM_017890.4(VPS13B): c.219_220delACinsT (p.Lys73Asnfs)indelLikely pathogenicrs386834075GRCh37Chr 8, 100050722: 100050723
40VPS13BNM_017890.4(VPS13B): c.22_23delCCinsA (p.Pro8Lysfs)indelLikely pathogenicrs386834076GRCh37Chr 8, 100026038: 100026039
41VPS13BNM_017890.4(VPS13B): c.2651-1G> Asingle nucleotide variantLikely pathogenicrs386834077GRCh37Chr 8, 100287308: 100287308
42VPS13BNM_017890.4(VPS13B): c.2727_2730dupGCTC (p.Asn911Alafs)duplicationLikely pathogenicrs180177357GRCh37Chr 8, 100287385: 100287388
43VPS13BNM_017890.4(VPS13B): c.2889G> A (p.Trp963Ter)single nucleotide variantLikely pathogenicrs386834078GRCh37Chr 8, 100396500: 100396500
44VPS13BNM_017890.4(VPS13B): c.292-2A> Gsingle nucleotide variantLikely pathogenicrs386834079GRCh37Chr 8, 100108538: 100108538
45VPS13BNM_017890.4(VPS13B): c.2934+1_2934+2delGTdeletionLikely pathogenicrs180177358GRCh37Chr 8, 100396546: 100396547
46VPS13BNM_017890.4(VPS13B): c.3427C> T (p.Arg1143Ter)single nucleotide variantLikely pathogenicrs386834080GRCh37Chr 8, 100454845: 100454845
47VPS13BNM_017890.4(VPS13B): c.3618T> A (p.Cys1206Ter)single nucleotide variantLikely pathogenicrs386834081GRCh37Chr 8, 100479814: 100479814
48VPS13BNM_017890.4(VPS13B): c.3666+2T> Csingle nucleotide variantLikely pathogenicrs386834082GRCh37Chr 8, 100479864: 100479864
49VPS13BNM_017890.4(VPS13B): c.404dupT (p.Leu135Phefs)duplicationLikely pathogenicrs386834083GRCh37Chr 8, 100108652: 100108653
50VPS13BNM_017890.4(VPS13B): c.4334delA (p.Gln1445Argfs)deletionLikely pathogenicrs386834084GRCh37Chr 8, 100523366: 100523366
51VPS13BNM_017890.4(VPS13B): c.4396dupA (p.Thr1466Asnfs)duplicationLikely pathogenicrs386834085GRCh37Chr 8, 100523428: 100523429
52VPS13BNM_017890.4(VPS13B): c.4411C> T (p.Arg1471Ter)single nucleotide variantLikely pathogenicrs386834086GRCh37Chr 8, 100523443: 100523443
53VPS13BNM_017890.4(VPS13B): c.4474delA (p.Ile1492Phefs)deletionLikely pathogenicrs386834087GRCh37Chr 8, 100523506: 100523506
54VPS13BNM_017890.4(VPS13B): c.4480_4482delCTT (p.Leu1494del)deletionLikely pathogenicrs386834088GRCh37Chr 8, 100523512: 100523514
55VPS13BNM_017890.4(VPS13B): c.4572dupA (p.Glu1525Argfs)duplicationLikely pathogenicrs386834089GRCh37Chr 8, 100523604: 100523605
56VPS13BNM_017890.4(VPS13B): c.467_470delATAA (p.Asn156Ilefs)deletionLikely pathogenicrs386834090GRCh37Chr 8, 100115235: 100115238
57VPS13BNM_017890.4(VPS13B): c.4820+2T> Csingle nucleotide variantLikely pathogenicrs386834091GRCh37Chr 8, 100533240: 100533240
58VPS13BNM_017890.4(VPS13B): c.4878_4880dupATA (p.Tyr1627Ter)duplicationLikely pathogenicrs386834092GRCh37Chr 8, 100568735: 100568737
59VPS13BNM_017890.4(VPS13B): c.5215_5232del18 (p.Ser1739_Gln1744del)deletionLikely pathogenicrs180177362GRCh37Chr 8, 100589781: 100589798
60VPS13BNM_017890.4(VPS13B): c.5331dupT (p.Asp1778Terfs)duplicationLikely pathogenicrs386834094GRCh37Chr 8, 100654074: 100654075
61VPS13BNM_017890.4(VPS13B): c.5426_5427dupAG (p.Gln1810Serfs)duplicationLikely pathogenicrs180177363GRCh37Chr 8, 100654170: 100654171
62VPS13BNM_017890.4(VPS13B): c.5461dupC (p.Arg1821Profs)duplicationLikely pathogenicrs180177364GRCh37Chr 8, 100654204: 100654205
63VPS13BNM_017890.4(VPS13B): c.5613_5614insT (p.Lys1872Terfs)insertionLikely pathogenicrs386834095GRCh37Chr 8, 100654356: 100654357
64VPS13BNM_017890.4(VPS13B): c.5737dupA (p.Ile1913Asnfs)duplicationLikely pathogenicrs386834096GRCh37Chr 8, 100654480: 100654481
65VPS13BNM_017890.4(VPS13B): c.5750delC (p.Ser1917Phefs)deletionLikely pathogenicrs386834097GRCh37Chr 8, 100654493: 100654493
66VPS13BNM_017890.4(VPS13B): c.5809_5810delAT (p.Ile1937Cysfs)deletionLikely pathogenicrs386834098GRCh37Chr 8, 100654552: 100654553
67VPS13BNM_017890.4(VPS13B): c.5827C> T (p.Arg1943Ter)single nucleotide variantLikely pathogenicrs386834099GRCh37Chr 8, 100654570: 100654570
68VPS13BNM_017890.4(VPS13B): c.626_627delCA (p.Thr209Serfs)deletionLikely pathogenicrs386834100GRCh37Chr 8, 100123371: 100123372
69VPS13BNM_017890.4(VPS13B): c.6420_6421delGA (p.Gln2140Hisfs)deletionLikely pathogenicrs386834101GRCh37Chr 8, 100712051: 100712052
70VPS13BNM_017890.4(VPS13B): c.6687delA (p.Gln2229Hisfs)deletionLikely pathogenicrs386834102GRCh37Chr 8, 100729556: 100729556
71VPS13BNM_017890.4(VPS13B): c.6732+1G> Asingle nucleotide variantLikely pathogenicrs180177366GRCh37Chr 8, 100729602: 100729602
72VPS13BNM_017890.4(VPS13B): c.6733-2A> Gsingle nucleotide variantLikely pathogenicrs386834103GRCh37Chr 8, 100732571: 100732571
73VPS13BNM_017890.4(VPS13B): c.7022A> G (p.Tyr2341Cys)single nucleotide variantLikely pathogenicrs386834104GRCh37Chr 8, 100733172: 100733172
74VPS13BNM_017890.4(VPS13B): c.7221delG (p.Gln2407Hisfs)deletionLikely pathogenicrs386834105GRCh37Chr 8, 100779097: 100779097
75VPS13BNM_017890.4(VPS13B): c.7504+1G> Asingle nucleotide variantLikely pathogenicrs386834106GRCh37Chr 8, 100789185: 100789185
76VPS13BNM_017890.4(VPS13B): c.7603C> T (p.Arg2535Ter)single nucleotide variantLikely pathogenicrs386834107GRCh37Chr 8, 100791008: 100791008
77VPS13BNM_017890.4(VPS13B): c.7610G> A (p.Trp2537Ter)single nucleotide variantLikely pathogenicrs386834108GRCh37Chr 8, 100791015: 100791015
78VPS13BNM_017890.4(VPS13B): c.7936delC (p.Gln2646Argfs)deletionLikely pathogenicrs386834109GRCh37Chr 8, 100796624: 100796624
79VPS13BNM_017890.4(VPS13B): c.8119C> T (p.Arg2707Ter)single nucleotide variantLikely pathogenicrs386834110GRCh37Chr 8, 100821705: 100821705
80VPS13BNM_017890.4(VPS13B): c.8341delC (p.Leu2781Terfs)deletionLikely pathogenicrs386834111GRCh37Chr 8, 100829936: 100829936
81VPS13BNM_017890.4(VPS13B): c.8472G> A (p.Trp2824Ter)single nucleotide variantLikely pathogenicrs386834112GRCh37Chr 8, 100830714: 100830714
82VPS13BNM_017890.4(VPS13B): c.8515C> T (p.Arg2839Ter)single nucleotide variantLikely pathogenicrs386834113GRCh37Chr 8, 100830757: 100830757
83VPS13BNM_017890.4(VPS13B): c.8611delA (p.Thr2871Hisfs)deletionLikely pathogenicrs386834114GRCh37Chr 8, 100831031: 100831031
84VPS13BNM_017890.4(VPS13B): c.8697-2A> Gsingle nucleotide variantLikely pathogenicrs386834115GRCh37Chr 8, 100831638: 100831638
85VPS13BNM_017890.4(VPS13B): c.8697-9A> Gsingle nucleotide variantLikely pathogenicrs386834116GRCh37Chr 8, 100831631: 100831631
86VPS13BNM_017890.4(VPS13B): c.916_917delGA (p.Asp306Tyrfs)deletionLikely pathogenicrs386834117GRCh37Chr 8, 100128081: 100128082
87VPS13BNM_017890.4(VPS13B): c.9406-1G> Tsingle nucleotide variantLikely pathogenicrs386834119GRCh37Chr 8, 100844596: 100844596
88VPS13BNM_017890.4(VPS13B): c.9690-2A> Gsingle nucleotide variantLikely pathogenicrs386834120GRCh37Chr 8, 100847423: 100847423
89VPS13BNM_017890.4(VPS13B): c.9706delT (p.Tyr3236Ilefs)deletionLikely pathogenicrs386834121GRCh37Chr 8, 100847441: 100847441
90VPS13BNM_017890.4(VPS13B): c.9731delA (p.Tyr3244Phefs)deletionLikely pathogenicrs386834122GRCh37Chr 8, 100847466: 100847466
91VPS13BNM_017890.4(VPS13B): c.5086C> T (p.Arg1696Ter)single nucleotide variantLikely pathogenicrs386834093GRCh37Chr 8, 100587947: 100587947

Expression for genes affiliated with Cohen Syndrome

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Expression patterns in normal tissues for genes affiliated with Cohen Syndrome

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Pathways for genes affiliated with Cohen Syndrome

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Compounds for genes affiliated with Cohen Syndrome

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GO Terms for genes affiliated with Cohen Syndrome

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Products for genes affiliated with Cohen Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cohen Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet