Diseases

Hypomagnesemia primary

Hypomagnesemia primary: Low blood magnesium levels which is caused by the abnormal absorption and excretion of the mineral and can be caused by such things as kidney problems and intestinal malabsorption.

Hypomandibular faciocranial dysostosis

Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.

Hypomelia mullerian duct anomalies

Hypomelia - mullerian duct anomalies: A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities.

Hypoparathyroidism

Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). PTH plays a key role in regulating and maintaining a balance of your body's minerals, namely calcium and phosphorus.

The low production of PTH in hypoparathyroidism leads to abnormally low ionized calcium levels in your blood and bones and to an increase of serum phosphorus. Current treatment consists of taking supplements to normalize your calcium and phosphorus levels.

Hypoparathyroidism familial isolated

Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.

Hypoparathyroidism X-linked

Hypoparathyroidism X-linked: Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers.

Hypopharyngeal cancer

Hypopharyngeal cancer is a disease that occurs when cancerous (malignant) cells develop in the tissues of the hypopharynx.

Hypophosphatasia

Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL (alkaline phosphatase) gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP.

Hypophosphatemic rickets

Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.

Hypopigmentation oculocerebral syndrome Cross type

Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral).

Hypopituitarism

Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.If there is decreased secretion of most pituitary hormones, the term panhypopituitarism (pan meaning "all") is used

Hypopituitary dwarfism

Hypopituitary dwarfism (medical condition): Short stature caused by low pituitary hormone levels which reduced growth hormone levels. Low pituitary hormone levels may be caused by genetic factors or acquired through brain infections, trauma or certain diseases

Hypoplasia hepatic ductular

Hypoplasia hepatic ductular: A rare liver disorder where there are fewer than normal bile ducts in the liver - sometimes all the bile ducts are absent. Alagille syndrome is characterized by this liver abnormalitiy as well as a distinctive face, abnormal vertebrae and retarded physical, mental and sexual development.

Hypoplasia of the tibia with polydactyly

Hypoplasia of the tibia with polydactyly: A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (also known as HLHS), is a rare congenital heart defect in which the left side of the heart is severely underdeveloped

Hypoplastic thumb mullerian aplasia

Hypoplastic thumb - mullerian aplasia: A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually function normally.

Hypoplastic thumbs hydranencephaly

Hypoplastic thumbs - hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.

Hypoproconvertinemia

Hypoproconvertinemia (medical condition): A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable

Hypoprothrombinemia

Hypoprothrombinemia is a blood disorder that results from a deficiency of prothrombin. Also known as Factor II, prothrombin is blood plasma protein essential for blood clotting. A lack of prothrombin results in blood clotting problems, meaning the body will have trouble stopping bleeding after an injury. In serious cases of hypoprothrombinemia, patients also suffer from internal hemorrhaging, particularly in the gastrointestinal system.

Hyporeninemic hypoaldosteronism

Hyporeninemic hypoaldosteronism: A rare condition where low levels of renin result in insufficient aldosterone being produced

Hypotelorism cleft palate hypospadias

Hypotelorism - cleft palate - hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.

Hypothalamic dysfunction

Hypothalamic dysfunction is a problem with the region of the brain called the hypothalamus, which helps control the pituitary gland and regulate many body functions.