COH1
MCID: CHN016
MIFTS: 50

Cohen Syndrome (COH1) malady

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

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Cohen Syndrome, also known as pepper syndrome, is related to camera marugo cohen syndrome and gay feinmesser cohen syndrome, and has symptoms including fetal immobility/abnormal fetal movements, intrauterine growth retardation and anophthalmos/anophthalmia/microphthalmos/microphthalmia. An important gene associated with Cohen Syndrome is VPS13B (vacuolar protein sorting 13 homolog B (yeast)). Affiliated tissues include bone, testes and eye.

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:47 216550

GeneReviews summary for cohen

Aliases & Classifications for Cohen Syndrome

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cohen syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

cohen syndrome 19 43 20 22 21 47 45 49 62
pepper syndrome 43 21
prominent incisors-obesity-hypotonia syndrome 21
hypotonia, obesity, and prominent incisors 21
obesity-hypotonia syndrome 21
coffin-siris syndrome 62
norio syndrome 21
coh1 43


External Ids:

OMIM47 216550
MESH via Orphanet36 C536438
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 56604005
UMLS via Orphanet63 C0265223

Related Diseases for Cohen Syndrome

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17GeneCards, 18GeneDecks
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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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

216550

Clinical features from OMIM:

216550

Symptoms:

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

Drugs & Therapeutics for Cohen Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Cohen Syndrome:

33
Bone, Testes, Eye, Tongue, Retina, Brain

Animal Models for Cohen Syndrome or affiliated genes

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Publications for Cohen Syndrome

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52PubMed
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Articles related to Cohen Syndrome:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome. (23557616)
2013
2
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. (22233653)
2012
3
A canine model of Cohen syndrome: Trapped Neutrophil Syndrome. (21605373)
2011
4
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
5
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
6
Cohen syndrome - a rare genetic cause of hypotonia in children. (21977120)
2010
7
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. (19190672)
2009
8
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. (20098905)
2009
9
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (18655112)
2008
10
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features. (17383910)
2007
11
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
2005
12
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
2005
13
The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression. (16354227)
2005
14
COH1 analysis and linkage study in two Japanese families with Cohen syndrome. (15691367)
2005
15
Delineation of Cohen syndrome following a large-scale genotype- phenotype screen. (15141358)
2004
16
Cohen syndrome with insulin resistance and seizure. (14738954)
2004
17
The anesthetic management of a patient with Cohen syndrome. (15333397)
2004
18
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. (15173253)
2004
19
Cohen syndrome in the Ohio Amish. (15211651)
2004
20
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (12676892)
2003
21
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
22
Neuropsychological assessment of a group of UK patients with Cohen syndrome. (12690562)
2003
23
Cohen syndrome and rheumatoid arthritis. (12017242)
2002
24
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
25
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. (11980891)
2002
26
Does a Jewish type of Cohen syndrome truly exist? (12210312)
2002
27
Cohen syndrome with acanthosis nigricans and insulin resistance. (11453534)
2001
28
Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. (11754073)
2001
29
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
30
The Camera-Marugo-Cohen syndrome: report of two new patients. (10482867)
1999
31
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. (9825573)
1998
32
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. (9803437)
1998
33
Cohen syndrome with high urinary excretion of hyaluronic acid. (9556296)
1998
34
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. (10029348)
1998
35
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
36
Identical twins with Cohen syndrome. (7573157)
1995
37
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (7920642)
1994
38
Cohen syndrome is neither uncommon nor new. (7856650)
1994
39
Cohen Syndrome (20301655)
1993
40
Cohen syndrome: fertility in a female patient. (1778007)
1991
41
Growth hormone deficiency in a girl with the Cohen syndrome. (1999833)
1991
42
The Cohen syndrome. Retinal lesions and granulocytopenia. (2348983)
1990
43
Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. (1981180)
1990
44
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). (2260606)
1990
45
Cohen syndrome: a connective tissue disorder? (3223494)
1988
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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (show all 23)
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 variantBenign, Pathogenicrs28940272GRCh37Chr 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.11907dupC (p.Ser3970Glnfs)duplicationLikely pathogenic, Pathogenicrs180177374GRCh37Chr 8, 100887732: 100887733
17VPS13BNM_017890.4(VPS13B): c.2074C> T (p.Arg692Ter)single nucleotide variantLikely pathogenic, Pathogenicrs180177356GRCh37Chr 8, 100168837: 100168837
18VPS13BNM_017890.4(VPS13B): c.2727_2730dupGCTC (p.Asn911Alafs)duplicationLikely pathogenic, Pathogenicrs180177357GRCh37Chr 8, 100287385: 100287388
19VPS13BNM_017890.4(VPS13B): c.2934+1_2934+2delGTdeletionLikely pathogenic, Pathogenicrs180177358GRCh37Chr 8, 100396546: 100396547
20VPS13BNM_017890.4(VPS13B): c.5215_5232del18 (p.Ser1739_Gln1744del)deletionLikely pathogenic, Pathogenicrs180177362GRCh37Chr 8, 100589781: 100589798
21VPS13BNM_017890.4(VPS13B): c.5426_5427dupAG (p.Gln1810Serfs)duplicationLikely pathogenic, Pathogenicrs180177363GRCh37Chr 8, 100654170: 100654171
22VPS13BNM_017890.4(VPS13B): c.5461dupC (p.Arg1821Profs)duplicationLikely pathogenic, Pathogenicrs180177364GRCh37Chr 8, 100654204: 100654205
23VPS13BNM_017890.4(VPS13B): c.6732+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs180177366GRCh37Chr 8, 100729602: 100729602

Expression for genes affiliated with Cohen Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Cohen Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet