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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42NIH Rare Diseases, 21Genetics Home Reference, 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 small/hypoplastic/adherent/absent ear lobe, preauricular/branchial tags/appendages and long hand/arachnodactyly. 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)
  • small/hypoplastic/adherent/absent ear lobe
  • preauricular/branchial tags/appendages
  • long hand/arachnodactyly
  • mouth held open
  • wide space between 1st-2nd toes
  • coloboma of iris
  • clinodactyly of fifth finger
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • short philtrum
  • intrauterine growth retardation
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • myopia
  • ventricular septal defect/interventricular communication
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • complete/partial macrodontia
  • long foot/arachnodactyly of toes
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • tapered fingers
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • long/thick/curved lashes/trichomegaly/polytrichia
  • anomalies of hands
  • fetal immobility/abnormal fetal movements
  • polynuclear cells/neutrophils anomalies/neutropenia
  • low hair line-front
  • anodontia/oligodontia/hypodontia
  • retinal/chorioretinal dysplasia/dystrophy
  • high nasal bridge
  • anomalies of eyelids, eyelashes and lacrimal system
  • cubitus valgus
  • high vaulted/narrow palate
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • kyphosis
  • nystagmus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • motor deficit/trouble
  • scoliosis
  • generalized obesity
  • autosomal recessive inheritance
  • genu valgum
  • syndactyly of fingers/interdigital palm
  • pectus excavatum
  • hypotonia
  • thickened/hypertrophic/fibromatous gingivae
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • strabismus/squint
  • hyperextensible joints/articular hyperlaxity
  • micrognathia/retrognathia/micrognathism/retrognathism
  • abnormal cry/voice/phonation disorder/nasal speech
  • late puberty/hypogonadism/hypogenitalism
  • microcephaly
  • short stature/dwarfism/nanism
  • coarse/thick hair
  • sensorineural deafness/hearing loss
  • thick/bushy eyebrows
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinitis pigmentosa/retinal pigmentary changes
  • anomalies of teeth and dentition
  • flat cheek bones/malar hypoplasia

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
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report. (22233653)
2012
2
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. (22855652)
2012
3
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
4
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. (21865173)
2011
5
Clinical variability of genetic isolates of Cohen syndrome. (21418059)
2011
6
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
7
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. (19533689)
2009
8
Enamel microabrasion in an individual with Cohen syndrome. (18489660)
2008
9
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. (18564496)
2008
10
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. (17990063)
2007
11
High prevalence of Cohen syndrome among Irish travellers. (17786118)
2007
12
Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance? (16488969)
2006
13
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. (16948945)
2006
14
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
2005
15
Cohen syndrome with insulin resistance and seizure. (14738954)
2004
16
The anesthetic management of a patient with Cohen syndrome. (15333397)
2004
17
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. (15173253)
2004
18
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (15154116)
2004
19
Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome. (15025727)
2004
20
Neuropsychological assessment of a group of UK patients with Cohen syndrome. (12690562)
2003
21
New oral findings in Cohen syndrome. (12789148)
2003
22
"A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities": Cohen syndrome with thrombocytopenia. (12558120)
2002
23
Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22. (11980891)
2002
24
Does a Jewish type of Cohen syndrome truly exist? (12210312)
2002
25
The ophthalmic findings in Cohen syndrome. (12446373)
2002
26
Cohen syndrome with acanthosis nigricans and insulin resistance. (11453534)
2001
27
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
28
Ophthalmologic findings in Cohen syndrome. A long-term follow-up. (10964838)
2000
29
The Camera-Marugo-Cohen syndrome: report of two new patients. (10482867)
1999
30
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. (10466416)
1999
31
Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. (10569209)
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
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
35
Refined mapping of the Cohen syndrome gene by linkage disequilibrium. (9359041)
1997
36
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. (7920642)
1994
37
Cohen syndrome is neither uncommon nor new. (7856650)
1994
38
Multiple coagulation defects and the Cohen syndrome. (8062442)
1994
39
Cohen syndrome: fertility in a female patient. (1778007)
1991
40
Growth hormone deficiency in a girl with the Cohen syndrome. (1999833)
1991
41
The Cohen syndrome. Retinal lesions and granulocytopenia. (2348983)
1990
42
Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus. (1981180)
1990
43
The anaesthetic management of an infant with frontometaphyseal dysplasia (Gorlin-Cohen syndrome). (3176838)
1988
44
Intrafamilial variation in Cohen syndrome. (3656371)
1987
45
Cohen syndrome with bull's eye macular lesion. (3703486)
1986
46
The Cohen syndrome in Israel. (2432032)
1986
47
Cohen syndrome: case report. (3868772)
1985
48
Cohen syndrome: further delineation and inheritance. (7246618)
1981
49
Cardiac involvement in the Cohen syndrome: a case report. (7438489)
1980
50
Confirmation of the Cohen syndrome. (671157)
1978

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
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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