Phenotypes associated with the disease pheochromocytoma/paraganglioma syndrome 4 (OMIM:115310):
- Cranial nerve paralysis (HP:0006824). Evidence: TAS. (OMIM:115310)
- Recurrent paroxysmal headache (HP:0002331): Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. Evidence: IEA. (OMIM:115310)
- Extraadrenal pheochromocytoma (HP:0006737): Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. Evidence: PCS. Frequency: 5/9. (PMID:11404820)
- Adrenal pheochromocytoma (HP:0006748): Pheochromocytoma originating from the adrenal medulla. Evidence: PCS. Frequency: 2/9. (PMID:11404820)
- Pulsatile tinnitus (HP:0008629): Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Evidence: TAS. (OMIM:115310)
- Hypertension associated with pheochromocytoma (HP:0002640): A type of hypertension associated with pheochromocytoma. Evidence: IEA. (OMIM:115310)
- Glomus jugular tumor (HP:0003001). Evidence: IEA. (OMIM:115310)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 9/9. (PMID:11404820)
- Renal cell carcinoma (HP:0005584): A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. Evidence: IEA. (OMIM:115310)
- Elevated urinary catecholamine level (HP:0011976): The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. (OMIM:115310)
- Gastrointestinal stroma tumor (HP:0100723). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:115310)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:115310)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. (OMIM:115310)
- Tachycardia (HP:0001649): A rapid heartrate that exceeds the range of the normal resting heartrate for age. Evidence: TAS. (OMIM:115310)
- Chemodectoma (HP:0030074): A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. Evidence: TAS. (OMIM:115310)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. (OMIM:115310)
- Episodic paroxysmal anxiety (HP:0000740): Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable. Evidence: IEA. (OMIM:115310)
- Paraganglioma (HP:0002668): A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. Evidence: TAS. (OMIM:115310)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11404820)
- Neuroblastoma (HP:0003006): Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:115310)
- Paraganglioma of head and neck (HP:0002864). Evidence: PCS. Frequency: 3/9. (PMID:11404820)