Knobloch Syndrome

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KEGG 36 H02074 SNOMED-CT via HPO 68 128306009 128602000 128613002 193570009 197811007 22066006 230745008 246545002 247053007 253057002 254836000 27637000 313307000 367403001 400178008 42059000 422338006 42376006 563001 57190000 69044001 74969002 83330001 84757009 91175000 more

UMLS 71 C1849409

Genetics Home Reference : ²⁵ Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect. A characteristic feature of Knobloch syndrome is extreme nearsightedness (high myopia). In addition, several other eye abnormalities are common in people with this condition. Most affected individuals have vitreoretinal degeneration, which is breakdown (degeneration) of two structures in the eye called the vitreous and the retina. The vitreous is the gelatin-like substance that fills the eye, and the retina is the light-sensitive tissue at the back of the eye. Vitreoretinal degeneration often leads to separation of the retina from the back of the eye (retinal detachment). Affected individuals may also have abnormalities in the central area of the retina, called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with Knobloch syndrome often develop blindness in one or both eyes. Another characteristic feature of Knobloch syndrome is a skull defect called an occipital encephalocele, which is a sac-like protrusion of the brain (encephalocele) through a defect in the bone at the base of the skull (occipital bone). Some affected individuals have been diagnosed with a different skull defect in the occipital region, and it is unclear whether the defect is always a true encephalocele. In other conditions, encephaloceles may be associated with intellectual disability; however, most people with Knobloch syndrome have normal intelligence.

MalaCards based summary : Knobloch Syndrome, also known as retinal detachment-occipital encephalocele syndrome, is related to knobloch syndrome 1 and vitreoretinal degeneration, and has symptoms including seizures and unspecified visual loss. An important gene associated with Knobloch Syndrome is COL18A1 (Collagen Type XVIII Alpha 1 Chain), and among its related pathways/superpathways is Degradation of the extracellular matrix. Affiliated tissues include retina, eye and bone, and related phenotypes are myopia and retinal detachment

NIH Rare Diseases : ⁵² Knobloch syndrome is characterized by severe vision problems and skull defects. The most common features include extreme nearsightedness (high myopia), recurrent retinal detachment , and occipital encephalocele . There are three types of Knobloch syndrome, which can be distinguished by the underlying genetic cause. Knobloch syndrome type I is caused by mutations in the COL18A1 gene . The genes associated with Knobloch syndrome type 2 and type 3 have not been identified; however, Knobloch syndrome type 3 has been linked to a specific region on chromosome 17, known as 17q11.2. Knobloch syndrome follows an autosomal recessive pattern of inheritance. Treatment is aimed at addressing the symptoms present in each individual and may include surgery to repair retinal detachments and occiptal encephaloceles.

KEGG : ³⁶ Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.

Wikipedia : ⁷⁴ Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in... more...

Search Clinical Trials , NIH Clinical Center for Knobloch Syndrome

Search GEO for disease gene expression data for Knobloch Syndrome.