Phenotypes associated with the disease Hereditary sensory and autonomic neuropathy type 4 (ORPHA:642):
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Abnormality of peripheral nerve conduction (HP:0003134): An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Aplasia of the sweat glands (HP:0011136): Absence of the sweat glands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:642)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Atypical scarring of skin (HP:0000987): Atypically scarred skin . Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Painless fractures due to injury (HP:0002661): An increased tendency to fractures following trauma, with fractures occurring without pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Neuropathic arthropathy (HP:0002821). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Trophic limb changes (HP:0003091): Trophic changes occurring in a limb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Abnormality of humoral immunity (HP:0005368): An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Nail-biting (HP:0012170): Habitual biting of one's own fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Abscess (HP:0025615): An abscess is a localized collection of purulent material surrounded by inflammation and granulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Abnormality of lower limb joint (HP:0100491). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Fasciitis (HP:0100537): Inflammation of fascia, the tissue under the skin and over the muscle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Lichenification (HP:0100725): Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)
- Short attention span (HP:0000736): Reduced attention span characterized by distractibility and impulsivity. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Syncope (HP:0001279): A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Unexplained fevers (HP:0001955): Episodes of fever for which no infectious cause can be identified. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Recurrent aspiration pneumonia (HP:0002100): Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Abnormality of the autonomic nervous system (HP:0002270): An abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Abnormality of the ankle (HP:0003028): An anomaly of the joint that connects the foot with the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Septic arthritis (HP:0003095). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Somatic sensory dysfunction (HP:0003474): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Functional motor deficit (HP:0004302). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Orthostatic hypotension due to autonomic dysfunction (HP:0004926). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Decreased corneal reflex (HP:0008000): An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Alveolar ridge overgrowth (HP:0009085): Increased width of the alveolar ridges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Avascular necrosis (HP:0010885): A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Tooth abscess (HP:0030757): A pocket of pus located within a region of a tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Tongue pain (HP:0030811): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Abnormal lumbar spine morphology (HP:0100712): Any structural abnormality of the lumbar vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Abnormal emotional state (HP:0100851): A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:642)
- Corneal scarring (HP:0000559). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Hypothermia (HP:0002045): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Hyperesthesia (HP:0100963): Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:642)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:642)