Phenotypes associated with the disease Leprosy (ORPHA:548, an Orphanet rare-disease identifier):
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:548)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Hypohidrosis (HP:0000966, a Human Phenotype Ontology term): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Sparse body hair (HP:0002231, a Human Phenotype Ontology term): Sparseness of the body hair. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Paresthesia (HP:0003401, a Human Phenotype Ontology term): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Acute episodes of neuropathic symptoms (HP:0003489, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Acral ulceration (HP:0006121, a Human Phenotype Ontology term): A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Impaired temperature sensation (HP:0010829, a Human Phenotype Ontology term): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Dissociated sensory loss (HP:0010835, a Human Phenotype Ontology term): A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Entrapment neuropathy (HP:0012181, a Human Phenotype Ontology term): Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Enlarged peripheral nerve (HP:0012645, a Human Phenotype Ontology term): Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Hypopigmented macule (HP:0020073, a Human Phenotype Ontology term): A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Anti-sphingolipid antibody positivity (HP:0034102, a Human Phenotype Ontology term): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Skin nodule (HP:0200036, a Human Phenotype Ontology term): Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:548)
- Epistaxis (HP:0000421, a Human Phenotype Ontology term): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Penetrating foot ulcers (HP:0001026, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Alopecia (HP:0001596, a Human Phenotype Ontology term): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormality of the upper respiratory tract (HP:0002087, a Human Phenotype Ontology term): An abnormality of the upper respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Absent eyebrow (HP:0002223, a Human Phenotype Ontology term): Absence of the eyebrow. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Steppage gait (HP:0003376, a Human Phenotype Ontology term): An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Autoamputation of digits (HP:0007460, a Human Phenotype Ontology term): The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Foot dorsiflexor weakness (HP:0009027, a Human Phenotype Ontology term): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormal seventh cranial physiology (HP:0010827, a Human Phenotype Ontology term): Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Facial shape deformation (HP:0011334, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Loss of eyelashes (HP:0011457, a Human Phenotype Ontology term): This term refers to the loss of eyelashes that were previously present. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormal facial skeleton morphology (HP:0011821, a Human Phenotype Ontology term): An abnormality of one or more of the set of bones that make up the facial skeleton. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Decreased corneal sensation (HP:0012155, a Human Phenotype Ontology term): Reduced ability of the cornea to respond to stimulation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Constrictive median neuropathy (HP:0012185, a Human Phenotype Ontology term): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Verrucous papule (HP:0012500, a Human Phenotype Ontology term): A wartlike (with multiple small elevated projections) papule. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Dysesthesia (HP:0012534, a Human Phenotype Ontology term): Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Corneal ulceration (HP:0012804, a Human Phenotype Ontology term): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Paralytic lagophthalmos (HP:0030003, a Human Phenotype Ontology term): A type of lagophthalmos that occurs in association with facial nerve palsy. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Urticarial plaque (HP:0030351, a Human Phenotype Ontology term): A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:548)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Uveitis (HP:0000554, a Human Phenotype Ontology term): Inflammation of one or all portions of the uveal tract. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Blindness (HP:0000618, a Human Phenotype Ontology term): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Gynecomastia (HP:0000771, a Human Phenotype Ontology term): Abnormal development of large mammary glands in males resulting in breast enlargement. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormality of the adrenal glands (HP:0000834, a Human Phenotype Ontology term): Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Iritis (HP:0001101, a Human Phenotype Ontology term): Inflammation of the iris. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormality of the liver (HP:0001392, a Human Phenotype Ontology term): An abnormality of the liver. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormality of the spleen (HP:0001743, a Human Phenotype Ontology term): An abnormality of the spleen. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Abnormal bone marrow cell morphology (HP:0005561, a Human Phenotype Ontology term): An anomaly of the form or number of cells in the bone marrow. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Testicular mass (HP:0032404, a Human Phenotype Ontology term): An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)
- Corneal perforation (HP:0100583, a Human Phenotype Ontology term): A rupture of the cornea through which a portion of the iris protrudes. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:548)