Phenotypes associated with the disease Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome (ORPHA:293987, an Orphanet rare-disease identifier):
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Anteverted nares (HP:0000463, a Human Phenotype Ontology term): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Decreased lacrimation (HP:0000633, a Human Phenotype Ontology term): Abnormally decreased lacrimation, that is, reduced tear production. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Decreased response to growth hormone stimulation test (HP:0000824, a Human Phenotype Ontology term): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Abnormality of the hypothalamus-pituitary axis (HP:0000864, a Human Phenotype Ontology term): Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Cyanosis (HP:0000961, a Human Phenotype Ontology term): Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hypohidrosis (HP:0000966, a Human Phenotype Ontology term): Abnormally diminished capacity to sweat. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Moderate intellectual disability (HP:0002342, a Human Phenotype Ontology term): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Abnormal midbrain morphology (HP:0002418, a Human Phenotype Ontology term): An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Polyphagia (HP:0002591, a Human Phenotype Ontology term): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hypoventilation (HP:0002791, a Human Phenotype Ontology term): A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hyponatremia (HP:0002902, a Human Phenotype Ontology term): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Elevated circulating hepatic transaminase concentration (HP:0002910, a Human Phenotype Ontology term): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hyperglycemia (HP:0003074, a Human Phenotype Ontology term): An increased concentration of glucose in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Hyperlipidemia (HP:0003077, a Human Phenotype Ontology term): An elevated lipid concentration in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Depressed nasal bridge (HP:0005280, a Human Phenotype Ontology term): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Central hypoventilation (HP:0007110, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Gonadotropin deficiency (HP:0008213, a Human Phenotype Ontology term): A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Prominent forehead (HP:0011220, a Human Phenotype Ontology term): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Central hypothyroidism (HP:0011787, a Human Phenotype Ontology term): A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Abnormal autonomic nervous system physiology (HP:0012332, a Human Phenotype Ontology term): A functional abnormality of the autonomic nervous system. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Premature adrenarche (HP:0012412, a Human Phenotype Ontology term): Onset of adrenarche at an earlier age than usual. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Widened subarachnoid space (HP:0012704, a Human Phenotype Ontology term): An increase in size of the anatomic space between the arachnoid membrane and pia mater. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Reduced social responsiveness (HP:0012760, a Human Phenotype Ontology term): A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:293987)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Aggressive behavior (HP:0000718, a Human Phenotype Ontology term): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Central diabetes insipidus (HP:0000863, a Human Phenotype Ontology term): A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Increased circulating prolactin concentration (HP:0000870, a Human Phenotype Ontology term): The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Fever (HP:0001945, a Human Phenotype Ontology term): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Polydipsia (HP:0001959, a Human Phenotype Ontology term): Excessive thirst manifested by excessive fluid intake. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Hypothermia (HP:0002045, a Human Phenotype Ontology term): Reduced body temperature due to failed thermoregulation. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Asthma (HP:0002099, a Human Phenotype Ontology term): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Developmental regression (HP:0002376, a Human Phenotype Ontology term): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Gastrointestinal dysmotility (HP:0002579, a Human Phenotype Ontology term): Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Recurrent lower respiratory tract infections (HP:0002783, a Human Phenotype Ontology term): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Recurrent upper respiratory tract infections (HP:0002788, a Human Phenotype Ontology term): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Obstructive sleep apnea (HP:0002870, a Human Phenotype Ontology term): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Ganglioneuroma (HP:0003005, a Human Phenotype Ontology term): 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Accelerated skeletal maturation (HP:0005616, a Human Phenotype Ontology term): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Ganglioneuroblastoma (HP:0006747, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Impaired pain sensation (HP:0007328, a Human Phenotype Ontology term): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Abnormal pupillary light reflex (HP:0007695, a Human Phenotype Ontology term): An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Adrenocorticotropic hormone deficiency (HP:0011748, a Human Phenotype Ontology term): A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:293987)
- Psychosis (HP:0000709, a Human Phenotype Ontology term): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Emotional lability (HP:0000712, a Human Phenotype Ontology term): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Compulsive behaviors (HP:0000722, a Human Phenotype Ontology term): Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Enuresis (HP:0000805, a Human Phenotype Ontology term): Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Delayed puberty (HP:0000823, a Human Phenotype Ontology term): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Seizure (HP:0001250, a Human Phenotype Ontology term): 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, a Human Phenotype Ontology term). (ORPHA:293987)
- Generalized hypotonia (HP:0001290, a Human Phenotype Ontology term): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Infectious encephalitis (HP:0002383, a Human Phenotype Ontology term): A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Celiac disease (HP:0002608, a Human Phenotype Ontology term): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Cardiorespiratory arrest (HP:0006543, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Cataplexy (HP:0002524, a Human Phenotype Ontology term): A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
- Self-injurious behavior (HP:0100716, a Human Phenotype Ontology term): Self-aggression. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:293987)
Not associated with this disease:
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: TAS. (ORPHA:293987)
- Hyperkalemia (HP:0002153, a Human Phenotype Ontology term): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. (ORPHA:293987)