Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus) Genes are part of our DNA, the basic genetic material found in each of our body's cells. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Genes are part of our DNA, the basic genetic material found in each of our body's cells.
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Estimated Number of People with this DiseaseĪnhidrosis Aplasia of the sweat glands Impaired temperature sensation Intellectual disability Osteomyelitis Pain insensitivity Recurrent Staphylococcus aureus infections Self-mutilation Abnormality of humoral immunity Abnormality of lower limb joint Atypical scarring of skin Difficulty walking Dry skin Fasciitis Lichenification Nail-biting Neuropathic arthropathy Painless fractures due to injury Premature loss of teeth Specific learning disability Trophic limb changes Abnormal emotion/affect behavior Abnormal hip bone morphology Abnormal lumbar spine morphology Abnormality of the ankles Abnormality of the autonomic nervous system Alveolar ridge overgrowth Anemia Avascular necrosis Bruising susceptibility Decreased corneal reflex Distal sensory impairment Dysphagia Feeding difficulties Functional motor deficit Growth delay Hyperactivity Impulsivity Orthostatic hypotension due to autonomic dysfunction Recurrent aspiration pneumonia Septic arthritis Short attention span Somatic sensory dysfunction Syncope Tooth abscess Chronic kidney disease Corneal scarring Corneal ulceration Hyperesthesia Hyperhidrosis CIPA is caused by changes in the NTRK1 gene. Other features may include dental caries, difficulty controlling urine and defecating (urine and fecal incontinence), behavioral or emotional problems and intellectual disability. Absent sweating can cause recurrent, high fevers (hyperpyrexia) and seizures brought on by high temperature (febrile seizures). People with CIPA may also heal slowly from skin and bone injuries, which can lead to chronic bone infections (osteomyelitis) or a condition called Charcot joints. The inability to feel pain and temperature often leads to repeated, severe injuries and unintentional self-injury is common. The signs and symptoms of CIPA usually appear at birth or during infancy. Congenital insensitivity to pain with anhidrosis (CIPA) also known as hereditary sensory and autonomic neuropathy type IV, is an inherited disease where there is an inability to feel pain and temperature, and decreased or absent sweating (anhidrosis).
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