Diseases

Nephropathic cystinosis

Cystinosis is an inherited condition in which the body accumulates the amino acid cystine within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.

Nephropathy familial with hyperuricemia

Nephropathy familial with hyperuricemia: A rare inherited kidney disease characterized by early onset of gout, kidney failure and high blood uric acid level and low urine uric acid level. The uric acid level abnormalities are due to the kidneys reduced ability to excrete it into the urine

Nephrosclerosis

Benign hypertensive arteriolar nephrosclerosis is progressive renal impairment caused by chronic, poorly controlled hypertension. Symptoms and signs of chronic kidney disease may develop (eg, anorexia, nausea, vomiting, pruritus, somnolence or confusion), as may signs of end-organ damage secondary to hypertension. Diagnosis is primarily clinical, supported by routine laboratory test findings. Treatment is strict BP control and support of renal function. Benign hypertensive arteriolar nephrosclerosis results when chronic hypertension damages small blood vessels, glomeruli, renal tubules, and interstitial tissues. As a result, progressive chronic kidney disease develops. Benign nephrosclerosis progresses to end-stage renal disease in only a small percentage of patients. However, because chronic hypertension and benign nephrosclerosis are common, benign nephrosclerosis is one of the most common diagnoses in patients with end-stage renal disease. It is termed benign to distinguish it from malignant arteriolar nephrosclerosis, which is a synonym for hypertensive emergency (see Arterial Hypertension: Hypertensive Emergencies). Risk factors include older age, poorly controlled moderate to severe hypertension, and other renal disorders (eg, diabetic nephropathy). Blacks are at increased risk; it is unclear if the risk is increased because poorly treated hypertension is more common among blacks or because blacks are more genetically susceptible to hypertension-induced renal damage.

Nephrotic syndrome ocular anomalies

Nephrotic syndrome ocular anomalies: A rare disorder characterized by the association of particular eye anomalies with kidney disease. Kidney failure occurs before or soon after birth with death occurring within months of birth.

Nephrotic syndrome- idiopathic- steroid-resistant

Nephrotic syndrome is a condition where the kidneys leak protein from the blood into the urine. Corticosteroids are used in the first instance to achieve remission. Some children do not respond to this treatment and other agents such as cyclophosphamide, chlorambucil, cyclosporin or ACE inhibitors may be used. This review found that when cyclosporin was compared to placebo or no treatment there was a significant increase in the number of children who achieved complete remission. There was no improvement with other immunosuppressive agents. However the number of studies were small

Nerve sheath neoplasm

Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.

Nesidioblastosis of pancreas

Nesidioblastosis of pancreas: A rare genetic disorder where abnormal islets of Langerhans cells in the pancreas produce excess insulin which causes very low blood sugar levels. Untreated low blood sugar can cause permanent brain damage.

Netherton syndrome

Netherton syndrome is a rare inherited disorder that presents with the three following characteristics:

  • Ichthyosiform erythroderma – inflamed, red, scaly skin
  • Trichorrhexis invaginata ("bamboo hair") – short, brittle, lustreless hair
  • Atopic diathesis – predisposition to allergy problems (e.g., to nuts, hay fever, and asthma)

Individuals with Netherton syndrome may show some or all of these features with varying degrees of severity of their symptoms.

Neu Laxova syndrome

A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage

Neuhauser Daly Magnelli syndrome

Neuhauser-Daly-Magnelli syndrome: A very rare syndrome characterized by tremors, duodenal ulcers and involuntary eye movements (nystagmus)

Neuhauser Eichner Opitz syndrome

Neuhauser-Eichner-Opitz syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neuhauser-Eichner-Opitz syndrome, or a subtype of Neuhauser-Eichner-Opitz syndrome, affects less than 200,000 people in the US population. Source - National Institutes of Health (NIH)

Neural tube defect- folate-sensitive

Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes

Neural tube defects X-linked

A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).

Neuraminidase deficiency with beta-galactosidase deficiency

Neuraminidase deficiency with beta-galactosidase deficiency also called Galactosialidosis, Goldberg syndrome,Cathepsin a deficiency. This means that Neuraminidase deficiency, or a subtype of Neuraminidase deficiency, affects less than 200,000 people in the US population.

Source - National Institutes of Health (NIH)

Neuritis with brachial predilection

Neuritis with brachial predilection: A neuromuscular disorder that tends to only affect the arm and hand. It causes muscle pain, weakness and wasting. Physical and emotional stress and pregnancy may trigger episodes. In rare cases the legs may be involved

Neuroblastoma

Neuroblastoma is a cancer that develops from immature nerve cells (neuroblasts) found in several areas of the body and most commonly arises in and around the adrenal glands, which have similar origins to nerve cells and sit atop the kidneys. However, neuroblastoma can also develop in other areas of the abdomen and in the chest, neck and near the spine, where groups of nerve cells exist.

Neuroblastoma most commonly affects children age 5 or younger, though it may rarely occur in older children.

Some forms of neuroblastoma go away on their own, while others may require multiple treatments. 

Neurocutaneous melanosis

Neurocutaneous melanosis: A rare genetic disorder characterized by melanosis of the skin and central nervous system deterioration

Neuroendocrine carcinoma of the cervix

Neuroendocrine carcinoma of the cervix is best defined separately:

Neuroendocrine: Of, relating to, or involving the interaction between the nervous system and the hormones of the endocrine glands.

Carcinoma: An invasive malignant tumor derived from epithelial tissue that tends to metastasize to other areas of the body.

Contents

Neuroendocrine carcinoma affects many different parts of the body.

In the cervix, it is a rare, but very aggressive form of cervical cancer. In its early stages, neuroendocrine carcinoma is asymptomatic (not showing or producing indications of a disease or other medical condition)

Neuroepithelioma

A malignant tumor of the retina of the eye.Ophanet, a consortium of European partners, currently defines a condition rare when if affects 1 person per 2,000. They list Neuroepithelioma as a "rare disease". The following list attempts to classify Neuroepithelioma into categories where each line is subset of the next. * malignant neoplasm,malignant tumor,metastatic tumor * neoplasm,tumor,tumour * growth * illness,malady,sickness,unwellness * health problem,ill health,unhealthiness * pathological state * condition,status * state

Neurofaciodigitorenal syndrome

A very rare syndrome characterized mainly by: * Mental retardation * Abnormal EEG * Seizures * Grooved nose tip * Prominent forehead

Neurofibroma

is a benign nerve sheath tumor in the peripheral nervous system. Usually found in individuals with Neurofibromatosis Type 1 (NF1), a genetically-inherited disease, they can result in a range of symptoms from physical disfiguration and pain to cognitive disability. Neurofibromas arise from Schwann cells that exhibit biallelic inactivation of the NF1 gene that codes for the protein neurofibromin.[1] This protein is responsible for regulating the RAS-mediated cell growth pathway. In contrast to schwannomas, another type of tumor arising from Schwann cells, neurofibromas incorporate many additional types of cells and structural elements in addition to Schwann cells, making it difficult to identify and understand all the mechanisms through which they originate and develop.[2]

Neurofibromatosis type 1

Neurofibromatosis type 1: NF1, a genetic disorder characterized by a number of remarkable skin findings including multiple cafe au lait (coffee with milk) spots, multiple benign tumors called neurofibromas on the skin, plexiform neurofibromas (thick and misshapen nerves due to the abnormal growth of cells and tissues that cover the nerve), and freckles in the armpit and groin. The cafe au lait spots increase in number and size with age. Ninety-seven percent of people with NF1 have 6 or more cafe au lait spots by age 20. The skin neurofibromas appear later, usually in the second decade of life. In NF1 there is an increased risk of scoliosis, optic gliomas (benign tumors on the optic nerve), epilepsy, and learning disability. The risk of malignant degeneration of neurofibromas is below 5 percent. NF1 is inherited in an autosomal dominant manner and is due to mutation of the NF1 gene (in chromosome band 17q11) that encodes a protein called neurofibromin. Half of cases are due to new mutations in the NF1 gene. Prenatal testing is available. Also called von Recklinghausen disease.

Neurofibromatosis type 2

Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.

Almost all people affected by NF2 develop bilateral (affecting both sides) vestibular schwannomas by age 30 years; however, other tumors of the central nervous system (the brain and spinal cord) are common, as well.

The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

The criteria that were chosen for the diagnosis of NF2 were the following, of which only 1 criterion was needed to make the diagnosis:

  • Bilateral CN VIII masses seen with appropriate imaging techniques (eg, computed tomography [CT] scanning or magnetic resonance imaging [MRI])
  • A first-degree relative with NF2 and either a unilateral CN VIII mass or 2 of the following:
  • Neurofibroma
  • Meningioma
  • Glioma
  • Schwannoma
  • Juvenile posterior subcapsular lenticular opacity

In the past 2 decades, a revision to these diagnostic criteria of NF2 was proposed that concerns the addition of a section for presumptive or probable diagnosis of NF2. These modified criteria are listed as follows:

  • Definite diagnosis of NF2
  • Bilateral CN VIII schwannomas on MRI or CT scan (no biopsy necessary)
  • First-degree relative with NF2 and either unilateral early-onset CN VIII schwannoma (age 2) and unilateral CN VIII schwannoma or 1 of the following:
  • Glioma
  • Schwannoma
  • Juvenile posterior subcapsular lenticular opacity

Neurofibromatosis type 3

Neurofibromatosis, Type III, Riccardi type is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Neurofibromatosis, Type III, Riccardi type, or a subtype of Neurofibromatosis, Type III, Riccardi type, affects less than 200,000 people in the US population.