COH1
MCID: CHN016
MIFTS: 44

Cohen Syndrome (COH1) malady

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

Summaries for Cohen Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 mental retardation and short stature, and has symptoms including flat cheek bones/malar hypoplasia, pectus excavatum and syndactyly of fingers/interdigital palm. An important gene associated with Cohen Syndrome is VPS13B (vacuolar protein sorting 13 homolog B (yeast)). Affiliated tissues include brain, retina and smooth muscle.

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:64 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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Endocrine, Blood, Metabolic


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 61
pepper syndrome 43 21
prominent incisors-obesity-hypotonia syndrome 21
hypotonia, obesity, and prominent incisors 21
obesity-hypotonia syndrome 21
coffin-siris syndrome 61
fifth digit syndrome 19
norio syndrome 21
coh1 43


External Ids:

OMIM47 216550
MESH via Orphanet36 C536438
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 56604005
UMLS via Orphanet62 C0265223

Related Diseases for Cohen Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

216550

Clinical synopsis from OMIM:

216550

Symptoms:

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

Drugs & Therapeutics for Cohen Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Cohen Syndrome

Drug clinical trials:

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Genetic Tests for Cohen Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Cohen Syndrome:

33
Brain, Retina, Smooth muscle

Animal Models for Cohen Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Cohen Syndrome

Sources:
51PubMed
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Articles related to Cohen Syndrome:

(show top 50)    (show all 104)
idTitleAuthorsYear
1
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. (23188044)
2013
2
Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome. (22855652)
2012
3
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. (21330571)
2011
4
Ophthalmic findings in the Greek isolate of Cohen syndrome. (21344628)
2011
5
Clinical variability of genetic isolates of Cohen syndrome. (21418059)
2011
6
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. (19190672)
2009
7
Ocular findings in Brazilian identical twins with Cohen syndrome: case report. (20098905)
2009
8
Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. (19533689)
2009
9
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. (19006247)
2009
10
Neuromuscular features in the camera-marugo-cohen syndrome. (18344716)
2008
11
Enamel microabrasion in an individual with Cohen syndrome. (18489660)
2008
12
Clinical and molecular characterization of Italian patients affected by Cohen syndrome. (17990063)
2007
13
Metabolic syndrome manifestations in Cohen syndrome: description of two new patients. (16948945)
2006
14
Pediatric ophthalmologic findings of Cohen syndrome in twins. (15724900)
2005
15
Behavioural characteristics and autistic features in individuals with Cohen Syndrome. (15793684)
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
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (15154116)
2004
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 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
24
The ophthalmic findings in Cohen syndrome. (12446373)
2002
25
Autistic features in Cohen syndrome: a preliminary report. (11665826)
2001
26
Cohen syndrome: essential features, natural history, and heterogeneity. (11477603)
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
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. (10466416)
1999
29
Cohen syndrome: two new cases in siblings. (10486089)
1999
30
Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. (10569209)
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
A familial syndrome with hypotonia, mental retardation and dysmorphic features resembling Cohen syndrome. (9457500)
1997
34
Granulocytopenia in Cohen syndrome. (9266925)
1997
35
The Cohen syndrome: report of a case. (12503195)
1997
36
Refined mapping of the Cohen syndrome gene by linkage disequilibrium. (9359041)
1997
37
Cohen syndrome is neither uncommon nor new. (7856650)
1994
38
Multiple coagulation defects and the Cohen syndrome. (8062442)
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
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. (1785634)
1991
43
The Cohen syndrome. Retinal lesions and granulocytopenia. (2348983)
1990
44
A consideration in evaluation of short stature. Cohen syndrome. (2879822)
1987
45
Cohen syndrome with bull's eye macular lesion. (3703486)
1986
46
Cohen syndrome: case report. (3868772)
1985
47
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. (6705238)
1984
48
Sexual development in a girl with Cohen syndrome. (7086576)
1982
49
Cohen syndrome: further delineation and inheritance. (7246618)
1981
50
Confirmation of the Cohen syndrome. (671157)
1978

Genetic Variations for Cohen Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cohen Syndrome:

63
id Symbol AA change Variation SNP ID
1VPS13Bp.Leu2193ArgVAR_017759
2VPS13Bp.Tyr2341CysVAR_038422
3VPS13Bp.Gly2645AspVAR_038423
4VPS13Bp.Asn2993SerVAR_038424rs28940272
5VPS13Bp.Ser2773LeuVAR_058754
6VPS13Bp.Ile2820ThrVAR_058755

Expression for genes affiliated with Cohen Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cohen Syndrome

Search GEO for disease gene expression data for Cohen Syndrome.

Pathways for genes affiliated with Cohen Syndrome

Compounds for genes affiliated with Cohen Syndrome

GO Terms for genes affiliated with Cohen Syndrome

Products for genes affiliated with Cohen Syndrome

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Sources for Cohen Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet