Diseases

Pseudohermaphroditism male with gynecomastia

A rare disorder characterized caused by an enzyme (17-beta-hydroxysteroid dehydrogenase isozyme 3) deficiency which results in a lack of testosterone which is needed during the fetal stage to give males there physical characteristics. The result is that males are born with ambiguous or feminine external genitals.

Pseudohypoaldosteronism type 1- autosomal dominant

A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to mineralocorticoids. Type 1 is differentiated from type II in that it involves sodium wasting. There are two forms of type 1: an autosomal recessive form which tends to be more severe than the autosomal dominant form. The recessive form tends to persist into adulthood whereas the dominant form is milder and symptoms tend to improve with age.

Pseudohypoaldosteronism type 1- autosomal recessive

A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to mineralocorticoids. Type 1 is differentiated from type II in that it involves sodium wasting. There are two forms of type 1: an autosomal recessive form which tends to be more severe than the autosomal dominant form. The recessive form tends to persist into adulthood whereas the dominant form is milder and symptoms tend to improve with age.

Pseudohypoaldosteronism type 2

A rare condition characterized by electrolyte disorders caused by the kidney's inability to respond to aldosterone. Type II is differentiated from Type I in that sodium wasting doesn't occur

Pseudohypoparathyroidism

Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism).

There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types

Pseudohypoparathyroidism type 1A is a type of pseudohypoparathyroidism. Pseudohypoparathyroidism is when your body is unable to respond to parathyroid hormone, which is a hormone that controls the levels of calcium, phosphorous, and vitamin D in the blood. The symptoms are very similar to hypoparathyroidism (when parathyroid hormone levels are too low). The main symptoms are low calcium levels and high phosphate levels in the blood. This results in cataracts, dental problems, seizures, numbness, and tetany (muscle twitches and hand and foot spasms). Symptoms are generally first seen in childhood. People with this disorder are also resistant to other hormones, such as thyroid-stimulating hormone and gonadotropins. Type 1A is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. Pseudohypoparathyroidism type 1A is caused by a spelling mistake (mutation) in the GNASgene and is inherited in an autosomal dominant manner.

Pseudohypoparathyroidism type 1B (PHP1B) is a genetic disorder that is caused by a lack of response (resistance) to parathyroid hormone (PTH) and other hormones such as thyroid-stimulating hormone (TSH). This condition is very similar to hypoparathyroidism (in which not enough PTH is produced), causing low calcium levels and high phosphate levels in the blood. Resistance to PTH in individuals with type 1B may be limited to the kidneys. The severity of the condition can vary considerably among affected individuals, even within the same family. Most individuals do not have an abnormal physical appearance and usually do not exhibit other endocrine abnormalities. In some cases, PHP1B is inherited in an autosomal dominant manner and is caused by mutations in either the GNAS or STX16 genes. In other cases, it has been shown to be sporadic (not inherited), caused byimprinting defects in the GNAS gene. The goals of treatment are to correct the calcium deficiency and prevent complications.

Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albright's hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.

Pseudohypoparathyroidism type 2 lacks the physical appearance of type 1a.Since the genetic defect in type 2 is further down the signalling pathway than in type 1, there is a normal cAMP response to PTH stimulation despite the inherent abnormality in calcium regulation.

Pseudomarfanism

A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.

Pseudomyotonia

Difficulty relaxing muscles after contracting the muscle.

Pseudomyxoma peritonei

Pseudomyxoma peritonei is a very rare type of cancer that usually begins in your appendix as a small growth, called a polyp. Or, more rarely, it can start in other parts of the bowel, the ovary or bladder. This polyp eventually spreads through the wall of your appendix and spreads cancerous cells to the lining of the abdominal cavity (the peritoneum). These cancerous cells produce mucus, which collects in the abdomen as a jelly like fluid called mucin.

Pseudoneonatal adrenoleukodystrophy

Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration of nervous system functions (neurodegeneration) beginning in infancy. Newborns with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial features, including widely spaced eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some affected individuals.

Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin speaking, but they experience a gradual loss of these skills (developmental regression), usually beginning between the ages of 1 and 3. As the condition gets worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and loss of vision and hearing. Most children with peroxisomal acyl-CoA oxidase deficiency do not survive past early childhood.

Pseudopolycythaemia

An acquired condition where the blood has the normal number of red blood cells but has a reduced plasma volume. It usually occurs in males with weight and blood pressure problems who smoke

Pseudoprogeria syndrome

A very rare syndrome characterized mainly by absent eyelashes and eyebrows as well a mental retardation .

Pseudotrisomy 13 syndrome

A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers.

Pseudotumor cerebri

A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS). Source - Diseases Database

Pseudoxanthoma elasticum

A group of inherited, progressive connective tissue disorders affecting the skin, eyes and cardiovascular system. The condition is characterized by calcium deposits in the connective tissue which affects its ability to function. Some cases remain undiagnosed to the mildness of symptoms.

Pseudoxanthoma elasticum- forme fruste

An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.

Psittacosis

Psittacosis is an infection caused by Chlamydia psittaci, a type of bacteria found in the droppings of birds. Birds spread the infection to humans.

Pterygium of the conjunctiva

A very rare disorder where an abnormal membrane of tissue grows from the conjunctiva of the eye. The membrane can cover a part of the eye and impair vision .