Diseases

Nevo syndrome

Nevo syndrome (medical condition): A genetic disorder characterized by excessive fetal growth, loose joints, kyphosis and impaired speech and motor development

Nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome (NBCCS, also known as basal cell carcinoma nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin–Goltz syndrome,and BCCNS), is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer.

About 10% of people with the condition do not develop basal-cell carcinomas (BCCs). The name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder.

Nevus of ota retinitis pigmentosa

Nevus of ota retinitis pigmentosa: A very rare syndrome characterized by abnormal pigmentation of the eye and the skin surrounding the eye

Nevus sebaceus of Jadassohn

Nevus sebaceous of Jadassohn: A rare genetic neurocutaneous disorder characterized by epidermal nevi associated with central nervous and skeletal system abnormalities

NGLY1 deficiency

NGLY1 deficiency (or N-glycanase deficiency) is an extremely rare genetic disorder of the endoplasmic reticulum. It falls within the family of Congenital Disorders of Glycosylation (CDG). In this disorder, the cells of the body cannot synthesize the enzyme N-glycanase.  N-glycanase 1 (encoded by the gene NGLY1) is responsible for cleaving N-linked glycans from misfolded glycoproteins, so that the body can recycle them. Lacking N-glycanase leaves the body with an impaired capacity to recycle misfolded glycoproteins, which appear to accumulate in the cells of patients, and which is associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected. 

N-glycanase deficiency is recessive: when parents are carriers, they have a 25% chance of producing a child with the disorder for each pregnancy.

 

Nguyen syndrome

Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies

Nicolaides–Baraitser syndrome

Nicolaides–Baraitser syndrome (NCBRS) is a rare genetic condition caused by de novo missense mutations in the SMARCA2 gene and has only been reported in less than 100 cases worldwide. NCBRS is a distinct condition and well recognizable once the symptoms have been identified.

Niemann-Pick Disease

Niemann–Pick disease is a group of inherited severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell.

The prognosis is individual but the severe form is fatal in toddlerhood and the milder forms may even in some cases have a normal lifespan.

This disease involves dysfunctional metabolism of sphingolipids, which are fats found in cell membranes, so it is a kind of sphingolipidosis. Sphingolipidoses, in turn, are included in the larger family of lysosomal storage diseases.

Niemann-Pick Disease Type C

Niemann-Pick disease (NPC) is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations.

There are four most commonly recognized forms of the disease: Types A, B, C, and D. Types A and B are also called Type I. Types C and D are also known as Type II.

Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.

Niemann-Pick Disease Type D

Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain.

Type D Niemann-Pick involves a defect that interferes with the movement of cholesterol between brain cells. It is now thought to be a variant of type C. This type of Niemann-Pick disease has only been found in the French Canadian population of Yarmouth County, Nova Scotia.

Symptoms, diagnosis, prevention and treatment are the same as with Type C. Please see our Niemann-Pick Disease page for more Information.

Nievergelt syndrome

Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies

Night blindness- congenital stationary

Night blindness, congenital stationary, type 1A: A rare X-linked disorder of the retina that involves the rods of the eyes. A reduced sharpness of vision and night blindness are usually the only symptoms. The non-progressive disorder is linked to a defect at chromosome Xp11.4 and occurs only in males though females may be carriers

Nijmegen Breakage Syndrome

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity, and a strong predisposition to lymphoid malignancy. Mutations in the NBS1 gene located in band 8q21 are responsible for NBS. NBS is identified as entries 251260 in and 602667 in Online Mendelian Inheritance in Man. In 1981, Weemaes et al1 first delineated the syndrome in 2 siblings with microcephaly, short stature, skin pigmentation abnormalities, mental retardation, immunologic defects, and a high prevalence of chromosome 7 and/or chromosome 14 rearrangements in cultured lymphocytes. In 1985, Seemanova et al2 described a group of patients with an apparently new genetic disorder characterized by microcephaly with normal intelligence, cellular and humoral immune defects, and a striking predisposition to lymphoreticular malignancies. These cases were subsequently studied and found to fit into the category of NBS. Further investigations revealed that in vitro cells derived from patients with NBS display characteristic abnormalities similar to those observed in ataxia-telangiectasia (A-T), including spontaneous chromosomal instability, sensitivity to ionizing radiation (IR), and radioresistant DNA synthesis (RDS). However, aside from immune deficiency and a predisposition for malignancies (particularly those of lymphoid origin), the clinical manifestations are distinct. Consequently, NBS has long been considered a variant of A-T. In 1998, on the basis of cellular phenotypes and the results of somatic cell complementation studies suggesting genetic heterogeneity, Jaspers et al proposed the term A-T variants for diseases in this group of patients. The 2 distinct groups were designated as A-T variant 1 (V1) for NBS and A-T variant 2 (V2) for Berlin breakage syndrome. Linkage studies allowed the exclusion of the gene responsible for NBS from the A-T locus on band 11q23 and from the translocation breakpoints in a Polish patient. When 2 independent groups of researchers finally mapped the gene to band 8q21 and isolated it in 1998, mutations in the single NBS1 gene were found to account for both A-T complementation groups V1 and V2.

Nipah virus encephalitis

Nipah virus encephalitis: Inflammation of the brain caused by the Nipah virus which can infect pigs and humans so transmission usually occurs through contact with pigs.

Nivelon Nivelon Mabille syndrome

Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems

Nocardiosis

Nocardiosis is an infection caused by bacteria (Nocardia) which live in the soil. If inhaled, the bacteria may cause pneumonia, which can lead to blood poisoning (sepsis) and the spread of nocardiosis to other organs of the body. This is called disseminated nocardiosis. People with compromised immune systems, such as people with cancer or those taking steroids or immunosuppressive medications, are at risk for disseminated nocardiosis. Nocardia may also infect the skin through a cut, puncture wound, or scratch that occurs while working outdoors or gardening. The skin infections, which may take different forms, are called cutaneous nocardiosis. Occupational exposure to soil, as in field work, landscaping, and farming, increases the risk of contracting cutaneous nocardiosis

Nodular melanoma

Nodular melanoma (NM) is the most aggressive form of melanoma. It grows in vertical direction from the outset and grows very fast (months). Nodular melanoma has no known precursor. It is a small black, or if amelanotic, pink nodule that simply enlarges. The lesions tend to bleed. The microscopic hallmarks are:

• Dome-shaped at low power

• Epidermis thin or normal

• Dermal nodule of melanocytes with a “pushing” growth pattern

• No "radial growth phase"

Noma

Noma (from Greek numein: to devour) also known as cancrum oris or gangrenous stomatitis, is a gangrenous disease leading to tissue destruction of the face, especially the mouth and cheek

Non Alcoholic Steatohepatitis

Non alcoholic steatohepatitis (NASH) is liver inflammation caused by a buildup of fat in the liver. NASH is part of a group of liver diseases, known as nonalcoholic fatty liver disease, in which fat builds up in the liver and sometimes causes liver damage that gets worse over time (progressive liver damage). Although the cause is not known, NASH seems to be related to certain other conditions, including obesity, high cholesterol and triglycerides, and diabetes. Treatment for NASH involves controlling those underlying diseases

Non functioning pancreatic endocrine tumor

Non functioning pancreatic endocrine tumor: A tumor of the pancreas that does not result in an increased hormone production but can cause symptoms when the tumor becomes big enough to push against other structures. The tumor may be malignant or benign.

Non-24-hour Sleep Wake Disorder

Non 24 hour sleep wake disorder refers to a steady pattern of one- to two-hour delays in sleep onset and wake times in people with normal living conditions. This occurs because the period of the person's sleep-wake cycle is longer than 24 hours. The condition most commonly affects people who are blind, due to an impaired sense of light-dark cycles. Non 24 hour sleep wake disorder can also affect sighted people. The cause of the disorder in these cases is incompletely understood, but studies suggest melatonin levels play a role.

Apart from the social stress or depression that living with this disorder may cause, the disorder itself is not considered harmful. The actual quality of sleep, and more importantly deep sleep, is equal or in many cases better, than those without the disorder.

Non-24-Hour Sleep/Wake Disorder (Hypernychthemeral syndrome)

A rare chronic form of sleep disorder involving a disturbance of the circadian rhythm. Patients have a consistent one or two hour delay in the time the go to sleep as well as the time they wake up so their sleep pattern doesn't fit into the 24 hour cycle. Thus, the sleep cycle changes every day which can be very disruptive. It has most often been reported in blind people. More detailed information about the symptoms, causes, and treatments of Hypernycthemeral syndrome is available below.

Source: Wrong Diagnosis

Non-dystrophic Myotonic Disorders

Nondystrophic myotonia: A group of rare diseases characterized by a muscle disorder where the voluntary muscles are slow to relax after movement. The problem occurs intermittently and can sometimes be painful but no muscle wasting occurs

Non-Hodgkin lymphoma

Non-Hodgkin's lymphoma is a disease in which cancer cells form in a person's lymphatic system and start to grow uncontrollably. There are several different types of lymphomas. Some lymphomas involve a particular type of cell; these are grouped under the heading Hodgkin's disease. All other forms of lymphoma fall into the non-Hodgkin's grouping. The different forms of non-Hodgkin's lymphoma depend on such things as what the cells look like under a microscope.

Alternative names: Lymphoma - non-Hodgkin's; Lymphocytic lymphoma; Histiocytic lymphoma; Lymphoblastic lymphoma; Cancer - non-Hodgkin's lymphoma

source: kidshealth

Non-Hodgkin Lymphoma

Non Hodgkin Lymphoma (NHL) are a diverse group of blood cancers that include any type of Lymphoma except Hodgkin Lymphoma.
The main common feature is absence of the giant Reed-Sternberg cells (which are characteristic of Hodgkin lymphoma). Types of NHL vary significantly in their severity, ranging from indolent (slow growing) to very aggressive (fast growing) and they can be formed by either B cells or T cells. B-cell non-Hodgkin lymphomas include Burkitt lymphoma, chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL), diffuse large B-cell lymphoma, follicular lymphoma, immunoblastic large cell lymphoma, precursor B-lymphoblastic lymphoma, and mantle cell lymphoma. T-cell non-Hodgkin lymphomas include mycosis fungoides, anaplastic large cell lymphoma, and precursor T-lymphoblastic lymphoma. Lymphomas that occur after bone marrow or stem cell transplantation are usually B-cell non-Hodgkin lymphomas. Prognosis and treatment depend on the stage and type of disease.

Non-Hodgkin’s lymphoma- during pregnancy

Non-Hodgkin's lymphoma, during pregnancy: A cancer that originates in the lymphatic system and occurs during pregnancy. The greatest problem is the fact that the cancer is usually quite aggressive and delays in delivery often results in delayed treatment and a poor prognosisThere are different types of treatment for pregnant patients with non-Hodgkin lymphoma. Different types of treatment are available for pregnant patients with non-Hodgkin lymphoma. Treatment is carefully chosen to protect the fetus. Treatment decisions are based on the mother’s wishes, the stage of the non-Hodgkin lymphoma, and the age of the fetus. The treatment plan may change as the symptoms, cancer, and pregnancy change. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. Three types of standard treatment are used: Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells. There are two types of radiation therapy. External radiation therapy uses a machine outside the body to send radiation toward the cancer. Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. To avoid any risk to the fetus, radiation therapy should be postponed until after delivery, if possible. If immediate treatment is needed, pregnant women with non-Hodgkin lymphoma may decide to continue the pregnancy and receive radiation therapy. However, lead used to shield the fetus may not protect it from scattered radiation that could possibly cause cancer in the future. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the spinal column, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). Combination chemotherapy is treatment with more than one anticancer drug. The way the chemotherapy is given depends on the type and stage of the cancer being treated. The fetus is exposed to chemotherapy when the mother is treated and some anticancer drugs cause birth defects. Because anticancer drugs are passed to the fetus through the mother, both must be watched closely when chemotherapy is given. Watchful waiting Watchful waiting is closely monitoring a patient’s condition without giving any treatment until symptoms appear or change. Treatment of Non-Hodgkin Lymphoma During Pregnancy See the PDQ summary on Adult Non-Hodgkin Lymphoma Treatment for more information on the treatment of non-Hodgkin lymphoma. Aggressive Non-Hodgkin Lymphoma During the First Trimester of Pregnancy When aggressive non-Hodgkin lymphoma is diagnosed in the first trimester of pregnancy, medical oncologists may advise the patient to end her pregnancy so that treatment may begin. Treatment is usually chemotherapy with or without radiation therapy. Aggressive Non-Hodgkin Lymphoma During the Second and Third Trimester of Pregnancy When possible, treatment should be postponed until after an early delivery, so that the fetus will not be exposed to anticancer drugs or radiation therapy. However, sometimes the cancer will need to be treated immediately in order to increase the mother's chance of survival. Indolent Non-Hodgkin Lymphoma During Pregnancy Women who have indolent (slow-growing) non-Hodgkin lymphoma can usually delay treatment with watchful waiting.