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Hereditary sensory and autonomic neuropathy type 2

Hereditary sensory neuropathy type II (HSN2) is a rare genetic disorder that usually begins in childhood by affecting the nerves that serve the lower arms and hands and the lower legs and feet (the peripheral nerves). Symptoms start with inflamed fingers or toes especially around the nails. Infection is common and worsens as ulcers (open sores) form on the fingers and on the soles of the feet. The loss of sensation in both hands and feet often leads to neglect of the wounds. This can become serious, even leading to amputation in extreme cases, so it is important to care for any such wounds.

Hereditary sensory and autonomic neuropathy type 3 (Familial Dysautonomia)

Hereditary sensory and autonomic neuropathy type 3, also called familial dysautonomia, is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.

Hereditary sensory and autonomic neuropathy type 4

Hereditary sensory and autonomic neuropathy type 4 (HSAN 4) - also or more commonly known as Congenital insensitivity to pain with anhidrosis (CIPA) - has two characteristic features: the inability to feel pain and temperature, and decreased or absent sweating (anhidrosis). The signs and symptoms of CIPA appear early, usually at birth or during infancy, but with careful medical attention, affected individuals can live into adulthood.

Hereditary sensory neuropathy type 2

The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet. Some types of HSN are related to or identical with some forms of Charcot-Marie-Tooth disorder, and others are related to or identical with familial dysautonomia (Riley-Day syndrome). The classification of the HSNs is complicated, and the experts do not always agree on it. Hereditary sensory neuropathy type II (HSN2) is a rare genetic disorder that usually begins in childhood by affecting the nerves that serve the lower arms and hands and the lower legs and feet (the peripheral nerves). Symptoms start with inflamed fingers or toes especially around the nails. Infection is common and worsens as ulcers (open sores) form on the fingers and on the soles of the feet. The loss of sensation in both hands and feet often leads to neglect of the wounds. This can become serious, even leading to amputation in extreme cases, so it is important to care for any such wounds. The disorder affects many of the body’s systems, is characterized by early onset (infancy or early childhood) and is transmitted genetically as an autosomal recessive trait.

Hereditary spastic paralysis- infantile onset ascending

A rare inherited progressive condition where the muscles of the arms, legs and face become increasingly weak and stiff due to damage to nerve cells that control muscle movement. The legs are affected first and then the arms and face - the symptoms ascend up the body. This condition involves mutations in the same gene and overlapping symptoms with juvenile primary lateral sclerosis but the difference is that primary lateral sclerosis only involves degeneration of the upper motor neurons whereas infantile-onset spastic paralysis is more severe and involves degeneration of upper and lower motor neurons

Hereditary spastic paraplegia

Hereditary spastic paraplegia (HSP), is a group of inherited diseases whose main feature is progressive stiffness and contraction (spasticity) in the lower limbs,as a result of damage to or dysfunction of the nerves.

HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as, for example, spastic diplegia. The origins of HSP are entirely separate phenomena from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to try to treat HSP symptomatology.

The condition sometimes also affects the optic nerve and retina of the eye, causes cataracts, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness.HSP is caused by defects in the mechanisms that transport proteins and other substances through the cell. Long nerves are affected because they have to transport cellular material through long distances, and are particularly sensitive to defects of cellular transport.

Hereditary spastic paraplegia was first described in 1883 by Adolph Strümpell, a German neurologist, and was later described more extensively in 1888 by Maurice Lorrain, a French physician.

Hereditary spherocytic hemolytic anemia

An inherited blood disorder where a metabolic defect causes defects in the red blood cells membranes which leads to their characteristic spherical shape (normal cells are doughnut shaped) and premature destruction

Hereditary spherocytosis

Hereditary spherocytosis is a rare genetic condition characterized by a defect of the red blood cell membrane. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood.

Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy

Hereditary transthyretin amyloidosis (hATTR) with polyneuropathy (formerly known as Familial Amyloid Polyneuropathy) is a rare disease due to mutations in the gene encoding transthyretin (TTR) and characterized by multisystem extracellular deposition of amyloid, leading to dysfunction of different organs and tissues.

Hereditary type 1 neuropathy

Hereditary sensory neuropathy Type I (HSN1) is a rare genetic disorder characterized by the loss of sensation (sensory loss), especially in the feet and legs and, less severely, in the hands and forearms. The sensory loss is due to abnormal functioning of the sensory nerves that control responses to pain and temperature and may also affect the autonomic nervous system that controls other involuntary or automatic body processes.

Hereditary type 2 neuropathy

Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. The exact prevalence is unknown, but is estimated as very low (less than 50 cases reported). HSAN2 presents in infancy or early childhood and is non-progressive. There is no sex preference or particular ethnic preponderance, and to date there is no increased incidence of consanguinity.

Hereditary Xerocytosis

Hereditary stomatocytosis and hereditary xerocytosis are rare, genetically distinct, autosomal dominant diseases of red blood cell sodium and potassium permeability. Hereditary cryohydrocytosis is a subtype of hereditary stomatocytosis. All three present with hemolysis and anemia, which can vary from mild to severe. The key signs and symptoms are those of all hemolytic anemias: jaundice, pallor, fatigue, splenomegaly, gallbladder disease, and susceptibility to an aplastic crisis following infection with parvovirus B19. The diseases begin at birth, but especially in the case of hereditary xerocytosis and hereditary cryohydrocytosis, may be mild enough to go undiscovered for years.

Hermansky Pudlak syndrome 2

A rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect, an accumulation of a waxy substance in cells (lysosomal ceroid storage) and immunodeficiency. HPS type 2 differs from type 1 in that it also involves immunodeficiency due to congenital neutropenia.

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare disorder characterized by various degrees of albinism, bleeding due to a platelet defect and accumulation of a waxy substance in cells (lysosomal ceroid storage).

Hermaphroditism

A very rare genetic disorder where a baby is born having both male and female internal sex organs

Hernandez Aguirre-Negrete syndrome

A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.

Herpes simiae (B virus)

A type of herpesvirus which occurs in monkeys but can be transmitted to humans through bites or through contact with infected monkey tissue as in a laboratory situation. The virus infects the brain (encephalitis) and the surrounding membrane (meningitis).

Herpes simplex encephalitis

A form of encephalitis caused by the herpes simplex virus and characterized by fever, headache and neurological symptoms.

Herpes virus antenatal infection

Transmission of the herpes virus from the mother to the baby during the fetal stage.

Herpes zoster ophthalmicus

Varicella-zoster virus (VZV) causes 2 distinct syndromes. The primary infection (chickenpox) is a contagious and usually benign febrile illness. Following this infection, virus particles remain in the dorsal root or other sensory ganglion where they may lay dormant for years to decades. As a result of aging, immunosuppressive illness, new stress, or medical treatments, the virus-specific cell-mediated immune responses may decline. Such conditions allow a reactivation of latent VZV and result in a localized cutaneous rash erupting in a single dermatome called herpes zoster (HZ), or shingles. Patients with HZ involving the first division of the trigeminal nerve have a disease process termed herpes zoster ophthalmicus (HZO). HZO was described long ago by Hippocrates, but its relation to VZV was not elucidated until the advent of modern medical tools such as the immunohistochemical assays.

Herpesvirus simiae B virus

Herpetic embryopathy

Transmission of the herpes virus from the mother to the baby during the fetal stage

Herpetic keratitis

A corneal inflammation due to a herpes virus - either herpes simplex or herpes zoster virus.

Keratitis is an inflammation of the cornea — the clear, dome-shaped tissue on the front of your eye that covers the pupil and iris. Keratitis is sometimes caused by an infection involving bacteria, viruses, fungi or parasites. Non-infectious keratitis can be caused by a minor injury, wearing your contact lenses too long or other noninfectious diseases.

Diseases