MCID: CHN016
MIFTS: 40

Cohen Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

Aliases & Classifications for Cohen Syndrome

About this section

Cohen Syndrome, Aliases & Descriptions:

Name: Cohen Syndrome 45 10 19 41 20 21 43 22
Pepper Syndrome 41 21
Prominent Incisors-Obesity-Hypotonia Syndrome 21
Hypotonia, Obesity, and Prominent Incisors 21
 
Obesity-Hypotonia Syndrome 21
Stage 4s Neuroblastoma 60
Norio Syndrome 21
Coh1 41


Classifications:



External Ids:

OMIM45 216550

Summaries for Cohen Syndrome

About this section


NIH Rare Diseases:41 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 autosomal recessive inheritance, open mouth and microcephaly. An important gene associated with Cohen Syndrome is VPS13B (vacuolar protein sorting 13 homolog B (yeast)). Affiliated tissues include eye, neutrophil and brain.

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

Description from OMIM:45 216550

GeneReviews summary for cohen

Related Diseases for Cohen Syndrome

About this section

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



Diseases related to cohen syndrome

Symptoms for Cohen Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

216550

Clinical features from OMIM:

216550

HPO human phenotypes related to Cohen Syndrome:

(show all 44)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 open mouth HP:0000194
3 microcephaly HP:0000252
4 facial hypotonia HP:0000297
5 short philtrum HP:0000322
6 hypoplasia of the maxilla HP:0000327
7 micrognathia HP:0000347
8 prominent nasal bridge HP:0000426
9 convex nasal ridge HP:0000444
10 downslanted palpebral fissures HP:0000494
11 visual impairment HP:0000505
12 myopia HP:0000545
13 thick eyebrow HP:0000574
14 optic atrophy HP:0000648
15 macrodontia of permanent maxillary central incisor HP:0000675
16 delayed puberty HP:0000823
17 growth hormone deficiency HP:0000824
18 single transverse palmar crease HP:0000954
19 chorioretinal dystrophy HP:0001135
20 tapered finger HP:0001182
21 intellectual disability HP:0001249
22 seizures HP:0001250
23 motor delay HP:0001270
24 neonatal hypotonia HP:0001319
25 cerebellar hypoplasia HP:0001321
26 joint hypermobility HP:0001382
27 small for gestational age HP:0001518
28 laryngomalacia HP:0001601
29 mitral valve prolapse HP:0001634
30 pes planus HP:0001763
31 neutropenia HP:0001875
32 leukopenia HP:0001882
33 high, narrow palate HP:0002705
34 genu valgum HP:0002857
35 lumbar hyperlordosis HP:0002938
36 thoracic scoliosis HP:0002943
37 cubitus valgus HP:0002967
38 narrow palm HP:0004283
39 short stature HP:0004322
40 thick corpus callosum HP:0007074
41 feeding difficulties in infancy HP:0008872
42 childhood-onset truncal obesity HP:0008915
43 short metacarpal HP:0010049
44 short metatarsal HP:0010743

Drugs & Therapeutics for Cohen Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Cohen Syndrome

Search NIH Clinical Center for Cohen Syndrome

Genetic Tests for Cohen Syndrome

About this section

Genetic tests related to Cohen Syndrome:

id Genetic test Affiliating Genes
1 Cohen Syndrome20 22 VPS13B

Anatomical Context for Cohen Syndrome

About this section

MalaCards organs/tissues related to Cohen Syndrome:

31
Eye, Neutrophil, Brain, Retina

Animal Models for Cohen Syndrome or affiliated genes

About this section

Publications for Cohen Syndrome

About this section

Articles related to Cohen Syndrome:

(show top 50)    (show all 106)
idTitleAuthorsYear
1
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. (25492866)
2015
2
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. (25502226)
2014
3
Airway management of a child with frontometaphyseal dysplasia (Gorlin Cohen syndrome). (24803775)
2014
4
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. (23557616)
2013
5
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. (22233653)
2012
6
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. (21605373)
2011
7
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
8
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
9
Cohen syndrome - a rare genetic cause of hypotonia in children. (21977120)
2010
10
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. (19190672)
2009
11
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. (20098905)
2009
12
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (18655112)
2008
13
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
2005
14
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
2005
15
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. (16354227)
2005
16
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. (15691367)
2005
17
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. (15141358)
2004
18
Cohen syndrome with insulin resistance and seizure. (14738954)
2004
19
The anesthetic management of a patient with Cohen syndrome. (15333397)
2004
20
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. (15173253)
2004
21
Cohen syndrome in the Ohio Amish. (15211651)
2004
22
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (12676892)
2003
23
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
24
Neuropsychological assessment of a group of UK patients with Cohen syndrome. (12690562)
2003
25
Cohen syndrome and rheumatoid arthritis. (12017242)
2002
26
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
27
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. (11980891)
2002
28
Does a Jewish type of Cohen syndrome truly exist? (12210312)
2002
29
Cohen syndrome with acanthosis nigricans and insulin resistance. (11453534)
2001
30
Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. (11754073)
2001
31
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
32
The Camera-Marugo-Cohen syndrome: report of two new patients. (10482867)
1999
33
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. (9825573)
1998
34
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. (9803437)
1998
35
Cohen syndrome with high urinary excretion of hyaluronic acid. (9556296)
1998
36
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. (10029348)
1998
37
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
38
Identical twins with Cohen syndrome. (7573157)
1995
39
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (7920642)
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

About this section

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

62
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 Variation 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 pathogenic, 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 pathogenic, 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 pathogenic, 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 pathogenic, 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 pathogenic, 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 pathogenic, 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 pathogenic, Pathogenicrs180177363GRCh37Chr 8, 100654170: 100654171
62VPS13BNM_017890.4(VPS13B): c.5461dupC (p.Arg1821Profs)duplicationLikely pathogenic, 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 pathogenic, 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

About this section
Search GEO for disease gene expression data for Cohen Syndrome.

Pathways for genes affiliated with Cohen Syndrome

About this section

Compounds for genes affiliated with Cohen Syndrome

About this section

GO Terms for genes affiliated with Cohen Syndrome

About this section

Products for genes affiliated with Cohen Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cohen Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet