Cohen Syndrome

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OMIM 57 216550 MedGen 42 C0265223 MeSH 44 D008607 D008831 D009123 D009765 more

KEGG 37 H00940 SNOMED-CT via HPO 69 258211005 204878001 262016004 441787004 441798003 54711002 271611007 32958008 60700002 128602000 22066006 246635007 397540003 7973008 57190000 204108000 61142002 563001 76976005 65194006 391987005 123526007 400003000 2109003 248409006 62250003 249768009 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 398151007 398152000 224958001 205294008 16026008 298181000 199612005 22033007 414915002 414916001 267258002 276610007 276369006 71485000 38086007 2120003 253549006 30288003 409712001 8074002 203534009 53226007 165517008 84828003 111266001 64217002 414564002 299330008 54583007 237836003 249769001 268251006 34048007 13164000 421689001 312958000 424169002 42712003 more UMLS 73 C1135161

NIH Rare Diseases : ⁵³ Cohen syndromeis 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.

MalaCards based summary : Cohen Syndrome, also known as pepper syndrome, is related to granulocytopenia and camera-marugo-cohen syndrome. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Dendritic Cells Developmental Lineage Pathway. Affiliated tissues include eye, bone and skin, and related phenotypes are pectus excavatum and obesity

Genetics Home Reference : ²⁵ 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 common in this condition include worsening nearsightedness (myopia), breakdown (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. These facial features typically 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.

OMIM : ⁵⁷ Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014). (216550)

UniProtKB/Swiss-Prot : ⁷⁵ Cohen syndrome: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.

Wikipedia : ⁷⁶ Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome, named after Michael Cohen, William... more...

GeneReviews: NBK1482

Clinical features from OMIM:

216550

Search NIH Clinical Center for Cohen Syndrome

Search GEO for disease gene expression data for Cohen Syndrome.