Phenotypes associated with the disease neuroblastoma, susceptibility to, 1 (OMIM:256700):
- Ganglioneuroblastoma (HP:0006747). Evidence: IEA. (OMIM:256700)
- Elevated urinary dopamine level (HP:0011979): The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: TAS. (OMIM:256700)
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: IEA. (OMIM:256700)
- 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:256700)
- Opsoclonus (HP:0010543): Bursts of large-amplitude multidirectional saccades without intersaccadic interval. Evidence: IEA. (OMIM:256700)
- Elevated urinary homovanillic acid (HP:0011977): An increased concentration of homovanillic acid in the urine. Evidence: TAS. (OMIM:256700)
- Elevated urinary vanillylmandelic acid (HP:0011978): An increased concentration of vanillylmandelic acid in the urine. Evidence: TAS. (OMIM:256700)
- Abdominal mass (HP:0031500): An abnormal enlargement or swelling in the abdomen. Evidence: IEA. (OMIM:256700)
- Mediastinal mass (HP:0033823): A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Evidence: TAS. (OMIM:256700)
- Abnormality of urine catecholamine level (HP:0011281): An abnormal amount of urinary catecholamine concentration. Evidence: TAS. (OMIM:256700)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:256700)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: IEA. (OMIM:256700)
- 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: IEA. (OMIM:256700)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: IEA. (OMIM:256700)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: IEA. (OMIM:256700)
- Sporadic (HP:0003745): Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. Evidence: IEA. (OMIM:256700)
- 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: TAS. (OMIM:256700)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: IEA. (OMIM:256700)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:256700)
- Ganglioneuroma (HP:0003005): A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. Evidence: IEA. (OMIM:256700)
- Horner syndrome (HP:0002277): An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. Evidence: IEA. (OMIM:256700)
- Typified by somatic mosaicism (HP:0001442): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: IEA. (OMIM:256700)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: IEA. (OMIM:256700)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:256700)
- Skin nodule (HP:0200036): 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: IEA. (OMIM:256700)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: IEA. (OMIM:256700)
- 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: IEA. (OMIM:256700)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: IEA. (OMIM:256700)