COH1
MCID: CHN016
MIFTS: 53

Cohen Syndrome (COH1) malady

Neuronal diseases, Eye diseases, Endocrine diseases, Fetal diseases, Blood diseases, Metabolic diseases categories

Summaries for Cohen Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Cohen Syndrome, also known as pepper syndrome, is related to microcephaly and coffin-siris 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 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:63 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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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

cohen syndrome 19 42 20 22 21 46 44 48 60
pepper syndrome 42 21
prominent incisors-obesity-hypotonia syndrome 21
hypotonia, obesity, and prominent incisors 21
obesity-hypotonia syndrome 21
coffin-siris syndrome 60
norio syndrome 21
coh1 42


External Ids:

OMIM46 216550
MESH via Orphanet35 C536438
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 56604005
UMLS via Orphanet61 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

Clinical Features for Cohen Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

216550

Clinical synopsis from OMIM:

216550

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Cohen Syndrome:

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

Animal Models for Cohen Syndrome or affiliated genes

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Publications for Cohen Syndrome

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50PubMed
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Articles related to Cohen Syndrome:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Cohen syndrome is associated with major glycosylation defects. (24334764)
2014
2
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. (23188044)
2013
3
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
4
Cohen syndrome diagnosis using whole genome arrays. (20921020)
2011
5
Cohen syndrome - a rare genetic cause of hypotonia in children. (21977120)
2010
6
Cerebellar hypoplasia and Cohen syndrome: a confirmed association. (20683995)
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
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. (19006247)
2009
10
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. (18655112)
2008
11
Neuromuscular features in the camera-marugo-cohen syndrome. (18344716)
2008
12
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. (16648375)
2006
13
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
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
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (15154116)
2004
20
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
21
Focal polymicrogyria, continuous spike-and-wave discharges during slow-wave sleep and Cohen syndrome: a case report. (12907281)
2003
22
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. (12730828)
2003
23
Cohen syndrome and rheumatoid arthritis. (12017242)
2002
24
Not Camera-Marugo-Cohen syndrome but diploid/triploid mixoploidy. (11754073)
2001
25
Autistic features in Cohen syndrome: a preliminary report. (11665826)
2001
26
Cohen syndrome: essential features, natural history, and heterogeneity. (11477603)
2001
27
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. (10466416)
1999
28
Cohen syndrome: two new cases in siblings. (10486089)
1999
29
Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. (10569209)
1999
30
Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia. (9825573)
1998
31
Cohen syndrome with neutropenia-induced periodontitis managed with granulocyte colony-stimulating factor (G-CSF): case reports. (9803437)
1998
32
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. (10029348)
1998
33
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
34
Granulocytopenia in Cohen syndrome. (9266925)
1997
35
Periodontal findings in Cohen syndrome with chronic neutropenia. (9182743)
1997
36
The Cohen syndrome: report of a case. (12503195)
1997
37
Refined mapping of the Cohen syndrome gene by linkage disequilibrium. (9359041)
1997
38
Identical twins with Cohen syndrome. (7573157)
1995
39
Cohen Syndrome (20301655)
1993
40
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. (1785634)
1991
41
Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1). (2260606)
1990
42
The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type? (2240027)
1990
43
Cohen syndrome: a connective tissue disorder? (3223494)
1988
44
A consideration in evaluation of short stature. Cohen syndrome. (2879822)
1987
45
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? (3096139)
1986
46
The clinical features of the Cohen syndrome: further case reports. (3989828)
1985
47
Duplication or insertion in 15q11-13 associated with mental retardation-short stature and obesity-Prader-Willi or Cohen syndrome? (6713711)
1984
48
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. (6705238)
1984
49
Sexual development in a girl with Cohen syndrome. (7086576)
1982
50
Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients. (7128643)
1982

Genetic Variations for Cohen Syndrome

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Cohen Syndrome

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1BioGPS, 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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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet