N-acetylglutamate synthetase (NAGS) deficiency is a rare genetic disorder caused by either the complete or partial absence of the enzyme N-acetylglutamate ...
Naegeli–Franceschetti–Jadassohn Syndrome is a rare form of ectodermal dysplasia characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and the t...
Nail-Patella Syndrome is a rare genetic disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, iliac horns, clubbed feet, glaucoma and kidney disease.
Narcolepsy is a lifelong neurological sleep disorder which is characterized by extreme daytime sleepiness and uncontrollable sleep attacks. These attacks vary in duration, frequency, and severit...
Nasu-Hakola Disease is a rare genetic disorder characterized by a combination of systemic bone cysts and dementia.
Necrotizing Enterocolitis - often abbreviated to NEC - is a rare disease affecting newborns. The affected newborns are typically infants born premature or with a ver...
Nemaline myopathy is a group of rare genetic disorders affecting skeletal muscle. On a microscopic level, abnormal rod-shaped bodies (nemalines) are found in affecte...
Neonatal Diabetes Mellitus is a genetic form of diabetes resulting in the congenital impairment of insulin release.
Neonatal Onset Multisystem Inflammatory Disease is a rare genetic disorder which causes inflammation in multiple parts of the body.
Diabetes insipidus is a disorder characterized by excretion of large amounts of diluted urine. Nephrogenic diabetes insipidus is cuased by the kidney's inabilityto respond normally to ADH.
Nephrogenic Systemic Fibrosis is a rare disorder involving fibrosis of skin, joints, eyes, and internal organs.
Neuroblastoma is a rare form of extracranial solid cancer found in children.
Neurocutaneous melanocytosis (NCM) is a rare disease that develops before birth. It is characterized by pigmented tumors in the brain and large pigmented spots or lesions called large/giant cong...
Neurofibromatosis type 1 or NF1 is a tumor predisposition syndrome characterized by the development of tumors in the skin and in the nervous system called neurofibromas. These neurofibromas are ...
Neurofibromatosis type 2 or NF2 is a genetic disorder characterized by the development of benign tumors in the nervous system. Depending on the type of cell that originates the tumor, these tumo...
Neuromyelitis optica (NMO) – previously called Devic's disease – is a rare autoimmune disease affecting the central nervous system – CNS – that causes inflammation of...
Neuropathy Hereditary with Liability to Pressure Palsies is a disorder in which the peripheral nerves are unusually sensitive to pressure.
Niemann-Pick Disease is an autosomal recessive disorder affecting lipid metabolism in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain.
Nijmegen Beakage Syndrome is a rare disorder characterised by chromosomal instability.
Nocardiosis is an infectious disease affecting either the lungs or the entire body, caused by the bacterium Nocardia.
Nodular Regenerative Hyperplasia is a rare form of liver hyperplasia.
Non-ketotic hyperglycemia (NKH) is caused by the disruption of glycine breakdown. Glycine is an amino acid, which is a building block of proteins. In NKH, the enzyme that degrades glyc...
Nontuberculous Mycobacteria is a bacteria that is found in water, some domestic and wild animals, and soil. NTM is a primary cause of respiratory disease in humans and is a leading cause of death i...
Those diagnosed with Noonan Syndrome have the same life expectancy as the average individuals. However, depending on the severity of the symptoms and heart conditions that arrive with Noonan Syndr...
Normal Pressure Hydrocephalus is a neurological condition characterized by the increase in intracranial pressure due to accumulation of cerebrospinal fluid.
Norman-Roberts syndrome is a rare disorder affecting the brain caused by a mutation in the reelin gene.
Norrie Disease is a rare genetic disorder caused by mutations in the NDP gene.