Disease – Page 111 – CheckOrphan

Kallikrein hypertension

Hypertension caused by a reduced level of Kallikrein which is involved in controlling blood pressure through it's effect on kidney function. Reduced kallikrein secretion can be associated with hypertension.

Kallmann syndrome 2

A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.

Kallmann syndrome- type 1- X-linked

A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.

Kallmann syndrome- type 3- recessive

A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 3 is recessively inherited and the genetic defect is located at chromosome 20p13.

Kantaputra Gorlin syndrome

A rare congenital disorder characterized by fusion of bones in the wrists and ankles as well as other bone development abnormalities in the limbs.

Kanzaki disease

A very rare inherited metabolic disorder where deficiency of an enzyme (alpha-N-acetylgalactosaminidase) causes glycoplids to accumulate in body tissues and result in various symptoms. Type 2 occurs during the second or third decade of life and is milder than type I and doesn't involve neurological degeneration

Kaolin pneumoconiosis

A lung disease caused by breathing in air contaminated with kaolin (component of china clay). It is generally an occupation disease where people are exposed to the contaminated air for prolonged periods of time. Kaolin is used to make ceramics, paper, medicines, cosmetics and toothpaste. Generally symptoms stop once the exposure ceases.

Kaplan Plauchu Fitch syndrome

A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.

Kaplowitz Bodurtha syndrome

A very rare syndrome characterized mainly by reduced pituitary hormone production and small eyes.

Kaposi sarcoma

Kaposi sarcoma (KS) is a cancer that develops from the cells that line lymph or blood vessels. It usually appears as tumors on the skin or on mucosal surfaces such as inside the mouth, but tumors can also develop in other parts of the body (including the lymph nodes, lungs, or digestive tract). The abnormal cells of Kaposi sarcoma cause purplish, reddish blue, or dark brown/black skin lesions (macules, nodules, plaques) on the legs and the face. These lesions may look bad, but they usually cause no symptoms. However, when the lesions are in the lungs, liver, or digestive tract, they may cause serious problems like gastrointestinal bleeding or trouble breathing.
Kaposi sarcoma is caused by infection with a virus called the Kaposi sarcoma associated herpesvirus (KSHV), also known as human herpesvirus 8 (HHV8). Kaposi sarcoma is classified into four types based upon the different populations in which it develops: classic (which presents in middle or old age), endemic (described in sub-Saharan indigenous Africans), iatrogenic (associated with immunosuppressive drug therapy) and AIDS-associated (epidemic KS). Options for treatment may include local therapy, radiation therapy, chemotherapy and biologic therapy (immunotherapy). The main aim is to restore immunity.

Kaposiform Hemangioendothelioma

This is a vascular tumor associated with the Kasabach-Merritt phenomenon (severe coagulopathy due to platelet trapping and spontaneous bleeding). These tumors are histopathologically distinct from the common hemangiomas of infancy.

Kapur Toriello syndrome

A rare disorder characterized by severe mental retardation, cleft lip, cleft palate, long columella (tissue that separates the nostrils) and eye, heart and intestinal abnormalities

Karandikar Maria Kamble syndrome

A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities

Kartagener syndrome

Kartagener's Syndrome is a chronic lung disease that occurs when cilia are unable to move. Kartagener's Syndrome is a rare genetic birth defect. Individuals with Kartagener's Syndrome have abnormal or absent ciliary motion.

Kashani Strom Utley syndrome

A very rare syndrome characterized mainly by a narrowed pulmonary aorta and urinary obstructive disease.

Kasznica Carlson Coppedge syndrome

A very rare syndrome characterized mainly by missing fingers or cleft hand, spina bifida and heart disease

Katsantoni Papadakou Lagoyanni syndrome

A very rare syndrome characterized mainly by mental retardation and hair abnormalities

Kaufman oculocerebrofacial syndrome

A rare syndrome characterized by a small head, narrow face, eye anomalies, severe mental retardation and long thin hands and feet. The disorder is recessively inherited.

Kawasaki syndrome

Kawasaki syndrome, (also known as Kawasaki disease, lymph node syndrome, and mucocutaneous lymph node syndrome), is an autoimmune disease in which the medium-sized blood vessels throughout the body become inflamed. It is largely seen in children under five years of age. It affects many organ systems, mainly those including the blood vessels, skin, mucous membranes, and lymph nodes. Its rarest but most serious effect is on the heart, where it can cause fatal coronary artery aneurysms in untreated children. Without treatment, mortality may approach 1%, usually within six weeks of onset. With treatment, the mortality rate is 0.17% in the U.S.

Often, a pre-existing viral infection may play a role in its pathogenesis. The skin, the conjunctivae of the eyes, and the mucous membranes of the mouth become red and inflamed. Swelling of the hands and feet is often seen and lymph nodes in the neck are often enlarged. A recurrent fever, often 37.8 °C (100.0 °F) or higher, is characteristic of the acute phase of the disease. In untreated children, the fever lasts about 10 days, but may range from five to 25 days. The disorder was first described in 1967 by Tomisaku Kawasaki in Japan.

KBG syndrome

A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.

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Kearns-Sayre syndrome

Kearns–Sayre syndrome (abbreviated KSS). is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as bilateral pigmentary retinopathy and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant.

Diseases