Diseases

Usher syndrome- type 1E

A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.

Usher syndrome- type 3

A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate.

Uterine leiomyoma

Uterine leiomyoma,is a benign smooth muscle Tumor of the uterus. Most women have no symptoms while others may have painful or heavy periods. If they push on the bladder a frequent need to urinate may occur.It may also cause pain during sex or lower back pain. A woman can have one uterine leiomyoma or many of them. Occasionally leiomyoma may make it difficult to get pregnant although this is uncommon.

Uveal melanoma

Uveal melanoma is a cancer (melanoma) of the eye involving the iris, ciliary body, or choroid (collectively referred to as the uvea). Tumors arise from the pigment cells (melanocytes) that reside within the uvea giving color to the eye. These melanocytes are distinct from the retinal pigment epithelium cells underlying the retina that do not form melanomas.

VACTERL association

VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects (V), anal atresia (A), cardiac defects (C), tracheo-esophageal fistula (TE), renal anomalies (R), and limb abnormalities (L). People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association.

VACTERL hydrocephaly

A rare syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).

Vacuolar myopathy

Neurology A heterogeneous group of conditions characterized by spinal cord degeneration; VM occurs in up to 20% of AIDS Pts; it is most extensive in the lateral columns of the middle and lower thoracic segments. Cf Spongy degeneration.

Vaginal cancer

Cancer of the vagina, is a rare kind of cancer in women. In vaginal cancer, cancer (malignant) cells are found in the tissues of the vagina. The vagina is the passageway through which fluid passes out of the body during menstrual periods and through which a woman has babies. The vagina is also called the "birth canal." The vagina connects the cervix (the opening of the womb or uterus) and the vulva (the folds of skin around the opening to the vagina).

Valinemia

A very rare metabolic disorder where a deficiency of the enzyme valine transaminase results in increased blood and urine levels of the amino acid called valine.

Van Allen Myhre syndrome

A syndrome which is characterised by vesicles, celosomia, short neck, microcornea, and dextrocardia.

Van Bogaert-Hozay syndrome

A rare disorder characterized by destruction of ends of finger bones, mental retardation , skin wasting and eye and facial abnormalities.

Van Buchem disease type 2 (VBCH2)

Van Buchem disease type 2 (VBCH2) phenotype can be caused by mutation in the LRP5 gene. Van Buchem disease, type 2 is an autosomal dominant, high bone density disorder. The autosomal dominant inheritance of VB type 2 is clearly in contrast with the diagnosis of Van Buchem disease.

Van Den Bosch syndrome

A syndrome which is characterised by mental deficiency, choroideremia, acrokeratosis, verruciformis, anhidrosis, skeletal deformity.

Van der Woude syndrome, VWS

Van der Woude syndrome is a condition that affects the development of the face. It is characterised by multiple congenital abnormalities.

Variant Creutzfeldt-Jakob disease

The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.