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• There are 107 unique proteins containing the PTMs that associate with disease.
Ameloblastoma (5) Ameloblastoma is a rare, benign or cancerous tumor of odontogenic epithelium (ameloblasts, or outside portion, of the teeth during development) much more commonly appearing in the lower jaw than the upper jaw. It was recognized in 1827 by Cusack. This type of odontogenic neoplasm was designated as an adamantinoma in 1885 by the French physician Louis-Charles Malassez. It was finally renamed to the modern name ameloblastoma in 1930 by Ivey and Churchill.
While these tumors are rarely malignant or metastatic (that is, they rarely spread to other parts of the body), and progress slowly, the resulting lesions can cause severe abnormalities of the face and jaw leading to severe disfiguration. Additionally, as abnormal cell growth easily infiltrates and destroys surrounding bony tissues, wide surgical excision is required to treat this disorder. If an aggressive tumor is left untreated, it can obstruct the nasal and oral airways making it impossible to breathe without oropharyngeal intervention. The term "ameloblastoma" is from the early English word amel, meaning enamel and the Greek word blastos, meaning germ. Reference Wiki: Ameloblastoma | Carcinoma (5) Carcinoma is a malignancy that develops from epithelial cells. Specifically, a carcinoma is a cancer that begins in a tissue that lines the inner or outer surfaces of the body, and that arises from cells originating in the endodermal, mesodermal or ectodermal germ layer during embryogenesis.
Carcinomas occur when the DNA of a cell is damaged or altered and the cell begins to grow uncontrollably and becomes malignant. It is from the Greek: ¦Ê¦Á¦Ñ¦Ê?¦Í¦Ø¦Ì¦Á, romanized: karkinoma, lit.?'sore, ulcer, cancer' (itself derived from karkinos meaning crab).
Reference Wiki: Carcinoma | Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth. HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement. Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. Phenotype and genotype frequency of HGF is 1:175,000 where males and females are equally affected but the cause is not entirely known. It mainly exists as an isolated abnormality but can also be associated with a multi-system syndrome. Reference Wiki: Gingival fibromatosis |
Adenoid cystic carcinoma is a rare type of cancer that can exist in many different body sites. This tumor most often occurs in the salivary glands, but it can also be found in many anatomic sites, including the breast,[1][2] lacrimal gland, lung, brain, Bartholin gland, trachea, and the paranasal sinuses. Reference Wiki: Oral adenoid cystic carcinoma | Oral cancer (6) Oral cancer, also known as mouth cancer, is a cancer of the lining of the lips, mouth, or upper throat. In the mouth, it most commonly starts as a painless white patch, that thickens, develops red patches, an ulcer, and continues to grow. When on the lips, it commonly looks like a persistent crusting ulcer that does not heal, and slowly grows. Other symptoms may include difficult or painful swallowing, new lumps or bumps in the neck, a swelling in the mouth, or a feeling of numbness in the mouth or lips.
Risk factors include tobacco and alcohol use. Those who use both alcohol and tobacco have a 15 times greater risk of oral cancer than those who use neither. Other risk factors include HPV infection, chewing paan, and sun exposure on the lower lip. Oral cancer is a subgroup of head and neck cancers. Diagnosis is made by biopsy of the concerning area, followed by investigation with CT scan, MRI, PET scan, and examination to determine if it has spread to distant parts of the body.
Oral cancer can be prevented by avoiding tobacco products, limiting alcohol use, sun protection on the lower lip, HPV vaccination, and avoidance of paan. Treatments used for oral cancer can include a combination of surgery (to remove the tumor and regional lymph nodes), radiation therapy, chemotherapy, or targeted therapy. The types of treatments will depend on the size, locations, and spread of the cancer taken into consideration with the general health of the person.
In 2018, oral cancer occurred globally in about 355,000 people, and resulted in 177,000 deaths. Between 1999 and 2015 in the United States, the rate of oral cancer increased 6% (from 10.9 to 11.6 per 100,000). Deaths from oral cancer during this time decreased 7% (from 2.7 to 2.5 per 100,000). Oral cancer has an overall 5 year survival rate of 65% in the United States as of 2015. This varies from 84% if diagnosed when localized, compared to 66% if it has spread to the lymph nodes in the neck, and 39% if it has spread to distant parts of the body. Survival rates also are dependent on the location of the disease in the mouth. Reference Wiki: Oral cancer | Oral cavity cancer (56) A gastrointestinal system cancer that is located_in the oral cavity. Reference DiseaseOntology: Oral cavity cancer |
Squamous-cell carcinoma (SCC), also known as epidermoid carcinoma, comprises a number of different types of cancer that begin in squamous cells. These cells form on the surface of the skin, on the lining of hollow organs in the body, and on the lining of the respiratory and digestive tracts.
Despite sharing the name "squamous-cell carcinoma", the SCCs of different body sites can show differences in their presented symptoms, natural history, prognosis, and response to treatment. Reference Wiki: Oral squamous cell carcinoma | Squamous-cell carcinoma (SCC), also known as epidermoid carcinoma, comprises a number of different types of cancer that begin in squamous cells.[1] These cells form on the surface of the skin, on the lining of hollow organs in the body, and on the lining of the respiratory and digestive tracts. Reference Wiki: Oral squamous epithelial carcinoma | Orofacial cleft (2) A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.
Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam.
A cleft lip or palate can be successfully treated with surgery. This is often done in the first few months of life for cleft lip and before eighteen months for cleft palate. Speech therapy and dental care may also be needed. With appropriate treatment, outcomes are good.
Cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world. Cleft lip is about twice as common in males as females, while cleft palate without cleft lip is more common in females. In 2017, it resulted in about 3,800 deaths globally, down from 14,600 deaths in 1990. The condition was formerly known as a "hare-lip" because of its resemblance to a hare or rabbit, but that term is now generally considered to be offensive. Reference Wiki: Orofacial cleft |
Tongue cancer (1) Oral cancer, also known as mouth cancer, is a cancer of the lining of the lips, mouth, or upper throat.[6] In the mouth, it most commonly starts as a painless white patch, that thickens, develops red patches, an ulcer, and continues to grow. When on the lips, it commonly looks like a persistent crusting ulcer that does not heal, and slowly grows.[7] Other symptoms may include difficult or painful swallowing, new lumps or bumps in the neck, a swelling in the mouth, or a feeling of numbness in the mouth or lips.[8] Reference Wiki: Tongue cancer | Tonsillar cancer (1) Oropharyngeal cancer, also known as oropharyngeal squamous cell carcinoma and tonsil cancer, is a disease in which abnormal cells with the potential to both grow locally and spread to other parts of the body are found in the oral cavity, in the tissue of the part of the throat (oropharynx) that includes the base of the tongue, the tonsils, the soft palate, and the walls of the pharynx.
The two types of oropharyngeal cancers are HPV-positive oropharyngeal cancer, which is caused by an oral human papillomavirus infection; and HPV-negative oropharyngeal cancer, which is linked to use of alcohol, tobacco, or both.
Oropharyngeal cancer is diagnosed by biopsy of observed abnormal tissue in the throat. Oropharyngeal cancer is staged according to the appearance of the abnormal cells on the biopsy coupled with the dimensions and the extent of the abnormal cells found. Treatment is with surgery, chemotherapy, or radiation therapy; or some combination of those treatments.
Reference Wiki: Tonsillar cancer | Tooth agenesis (3) Hypodontia is defined as the developmental absence of one or more teeth excluding the third molars. It is one of the most common dental anomalies, and can have a negative impact on function, and also appearance. It rarely occurs in primary teeth (also known as deciduous, milk, first and baby teeth) and the most commonly affected are the adult second premolars and the upper lateral incisors. It usually occurs as part of a syndrome that involves other abnormalities and requires multidisciplinary treatment.
The phenomenon can be subdivided into the following according to the number of teeth concerned:
Hypodontia: one to six missing teeth excluding the third molars
Oligodontia: six or more missing permanent teeth excluding the third molars
Anodontia: complete absence of teeth Reference Wiki: Tooth agenesis |
Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.
The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954. The worldwide disease incidence ranges from 1:100,000 to 1:40,000. Reference Wiki: Van der Woude syndrome | A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. Reference DiseaseOntology: X-linked cleft palate with or without ankyloglossia |
