Phenotypes associated with the disease phenylketonuria (OMIM:261600):
- Pregnancy history (HP:0002686): Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product. Evidence: IEA. (OMIM:261600)
- 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: IEA. (OMIM:261600)
- Fair hair (HP:0002286): A lesser degree of hair pigmentation than would otherwise be expected. Evidence: IEA. (OMIM:261600)
- Elevated urinary phenylpyruvic acid level (HP:0034458): An abnormally increased amount of phenylpyruvic acid in the urine. Evidence: TAS. (OMIM:261600)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: TAS. (OMIM:261600)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:261600)
- Depression (HP:0000716): 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. (OMIM:261600)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:261600)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. (OMIM:261600)
- Aggressive behavior (HP:0000718): 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. (OMIM:261600)
- Anxiety (HP:0000739): 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. (OMIM:261600)
- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: IEA. (OMIM:261600)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. (OMIM:261600)
- Elevated urinary gamma-glutamylphenylalanine level (HP:6000281): The amount of gamma-glutamylphenylalanine in the urine, when normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 12/12. Onset: Congenital onset (HP:0003577). (PMID:466810)
- Cerebral calcification (HP:0002514): The presence of calcium deposition within the cerebrum. Evidence: IEA. (OMIM:261600)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:261600)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: IEA. (OMIM:261600)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:261600)
- Increased level of hippuric acid in urine (HP:0410066): An increase in the level of hippuric acid in the urine. Evidence: PCS. Frequency: 20/20. (PMID:22626821;PMID:19551947)
- Reduced phenylalanine hydroxylase level (HP:0005982): A reduction in phenylalanine 4-monooxygenase level. Evidence: PCS. (OMIM:261600)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. (OMIM:261600)
- Maternal hyperphenylalaninemia (HP:0100610): A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. Evidence: TAS. (OMIM:261600)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:261600)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: IEA. (OMIM:261600)
- Compulsive behaviors (HP:0000722): 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. (OMIM:261600)
- Hyperphenylalaninemia (HP:0004923): The concentration of L-phenylalanine in the blood circulation is above the upper limit of normal. Evidence: PCS. (OMIM:261600)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. (OMIM:261600)
- Generalized hypopigmentation (HP:0007513). Evidence: IEA. (OMIM:261600)
- Phenylpyruvic acidemia (HP:0004920). Evidence: IEA. (OMIM:261600)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: TAS. (OMIM:261600)