Phenotypes associated with the disease IgG4-related pachymeningitis (ORPHA:449427):
- Abnormal cerebrospinal fluid morphology (HP:0002921): An abnormality of the cerebrospinal fluid (CSF). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:449427)
- Abnormal dura mater morphology (HP:0010652): An abnormality of the Dura mater. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:449427)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Increased circulating IgG4 concentration (HP:0032300): An abnormally increased concentration of the IgG4 subtype in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:449427)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Visual loss (HP:0000572): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Diplopia (HP:0000651): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Hallucinations (HP:0000738): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Aphasia (HP:0002381): An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Low back pain (HP:0003419): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- 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:449427)
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormal spinal dura mater morphology (HP:0009744): An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormal temporal bone morphology (HP:0009911): Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormality of the clivus (HP:0010558): An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Parotitis (HP:0011850): Inflammation of the parotid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Neck pain (HP:0030833): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormality of the brachial nerve plexus (HP:0045052): Any abnormality of the brachial nerve plexus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormality of cervical plexus (HP:3000035): Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:449427)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449427)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449427)
- Reduced circulating complement concentration (HP:0004431): An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:449427)