Cohen Syndrome (COH1)

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MedlinePlus Genetics: ⁴² 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.The features of Cohen syndrome vary widely among affected individuals. Additional signs and symptoms in some individuals with this disorder include low levels of white blood cells (neutropenia), overly friendly behavior, and obesity that develops in late childhood or adolescence. When obesity is present, it typically occurs around the torso, with the arms and legs remaining slender (called truncal obesity). Individuals with Cohen syndrome may also have narrow hands and feet, and slender fingers.

MalaCards based summary: Cohen Syndrome, also known as pepper syndrome, is related to granulocytopenia and neutropenia. An important gene associated with Cohen Syndrome is VPS13B (Vacuolar Protein Sorting 13 Homolog B), and among its related pathways/superpathways is Autophagy pathway. The drugs Carboplatin and Picropodophyllin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and tongue, and related phenotypes are myopia and intellectual disability

GARD: ¹⁹ Cohen syndrome is a congenital (present at birth) condition. Symptoms vary considerably from person to person but may include distinctive facial features, retinal dystrophy, nearsightedness, small head size, intellectual disability, global developmental delay, weak muscle tone, and unusually large range of joint movement. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have genetic changes 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.

OMIM®: ⁵⁷ Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014). (216550) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has material basis in homozygous or compound heterozygous mutation in VPS13B on chromosome 8q22.2.

Orphanet: ⁵⁸ A rare developmental defect during embryogenesis characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Wikipedia: ⁷⁵ Cohen syndrome (also known as Pepper syndrome or Cervenka syndrome) is a very rare autosomal recessive... more...

Clinical features from OMIM®:

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