Cohen Syndrome

Common Name(s)

Cohen Syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cohen Syndrome" for support, advocacy or research.

Cohen Syndrome Ass

Mission: To raise awareness for earlier diagnosis of Cohen Syndrome. We A.R.E. Cohen Syndrome We Advocate, Research & Educate families And professionals about Cohen Syndrome

Last Updated: 8 Apr 2014

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cohen Syndrome" for support, advocacy or research.

Cohen Syndrome Ass

Mission: To raise awareness for earlier diagnosis of Cohen Syndrome. We A.R.E. Cohen Syndrome We Advocate, Research & Educate families And professionals about Cohen Syndrome

http://cohen-syndrome.org/

Last Updated: 8 Apr 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cohen Syndrome" returned 27 free, full-text research articles on human participants. First 3 results:

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.
 

Author(s): Floriane Limoge, Laurence Faivre, Thomas Gautier, Jean-Michel Petit, Elodie Gautier, David Masson, Gaëtan Jego, Salima El Chehadeh-Djebbar, Nathalie Marle, Virginie Carmignac, Valérie Deckert, Marie-Claude Brindisi, Patrick Edery, Jamal Ghoumid, Edward Blair, Laurent Lagrost, Christel Thauvin-Robinet, Laurence Duplomb

Journal: Hum. Mol. Genet.. 2015 Dec;24(23):6603-13.

 

Cohen Syndrome (CS) is a rare autosomal recessive disorder, with defective glycosylation secondary to mutations in the VPS13B gene, which encodes a protein of the Golgi apparatus. Besides congenital neutropenia, retinopathy and intellectual deficiency, CS patients are faced with truncal ...

Last Updated: 6 Nov 2015

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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
 

Author(s): Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K Vincent, Amirthagowri Ambalavanan, Falak Sher Khan, Muhammad Ayaz, Naseema Shaheen, Dan Spiegelman, Ghazanfar Ali, Muhammad Amin-ud-Din, Sandra Laurent, Huda Mahmood, Mehtab Christian, Nadir Ali, Alanna Fennell, Zohair Nanjiani, Gerald Egger, Chantal Caron, Ahmed Waqas, Muhammad Ayub, Saima Rasheed, Baudouin Forgeot d'Arc, Amelie Johnson, Joyce So, Muhammad Qasim Brohi, Laurent Mottron, Muhammad Ansar, John B Vincent, Lan Xiong

Journal:

 

Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits.

Last Updated: 24 Jun 2015

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Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.
 

Author(s): Iuliana Ionita-Laza, Marinela Capanu, Silvia De Rubeis, Kenneth McCallum, Joseph D Buxbaum

Journal:

 

Pinpointing the small number of causal variants among the abundant naturally occurring genetic variation is a difficult challenge, but a crucial one for understanding precise molecular mechanisms of disease and follow-up functional studies. We propose and investigate two complementary ...

Last Updated: 16 Dec 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cohen Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Surgical treatment for kyphoscoliosis in Cohen syndrome.
 

Author(s): Shiro Imagama, Taichi Tsuji, Tetsuya Ohara, Yoshito Katayama, Manabu Goto, Naoki Ishiguro, Noriaki Kawakami

Journal: Nagoya J Med Sci. 2013 Aug;75(3-4):279-86.

 

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis ...

Last Updated: 19 Mar 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.