Phenotypes associated with the disease dihydropyrimidinuria (OMIM:222748):
- Lethargy (HP:0001254): A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks. Evidence: IEA. (OMIM:222748)
- Reduced dihydropyrimidine dehydrogenase level (HP:0003654): An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. Evidence: PCS. Frequency: 2/2. (PMID:17383919)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:222748)
- 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: PCS. Frequency: 6/20. (PMID:20362666)
- Elevated urinary thymine level (HP:6000331): The amount of thymine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. (PMID:20362666)
- Elevated CSF dihydrouracil concentration (HP:6000211): The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:6467612)
- Elevated urinary dihydrouracil level (HP:6000118): The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Abnormal pyramidal tract morphology (HP:0002062): Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. Evidence: IEA. (OMIM:222748)
- Elevated circulating thymine concentration (HP:4000095): Concentration of the nucleobase thymine in the blood circulation above the normal range. Evidence: PCS. Frequency: 2/2. (PMID:17383919)
- Elevated circulating aldolase concentration (HP:0012544): Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Uraciluria (HP:0012127): Increased concentration of uracil in the urine. Evidence: PCS. Frequency: 2/2. (PMID:17383919)
- Elevated urinary dihydrothymine level (HP:6000119): The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/20. (PMID:20362666)
- Autism (HP:0000717): Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). Evidence: PCS. Frequency: 3/20. (PMID:20362666)
- Reduced hepatic dihydropyrimidinase activity (HP:6000083): Activity of dihydropyrimidinase in the liver below the lower limit of normal. Evidence: TAS. (OMIM:222748)
- 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: PCS. Frequency: 1/1. (PMID:30384990)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:222748)
- Metabolic acidosis (HP:0001942): Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. Evidence: IEA. (OMIM:222748)
- 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: PCS. Frequency: 12/19. (PMID:20362666)
- Extrapyramidal dyskinesia (HP:0007308). Evidence: IEA. (OMIM:222748)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 3/20. (PMID:20362666)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: IEA. (OMIM:222748)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/2. (PMID:17383919)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 7/20. (PMID:20362666)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: IEA. (OMIM:222748)
- Elevated circulating uracil concentration (HP:0033139): Concentration of uracil in the blood circulation is above the normal range. Evidence: PCS. Frequency: 1/2. (PMID:17383919)
- Elevated circulating dihydrouracil concentration (HP:0034593): An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil. Evidence: TAS. (OMIM:222748)
- 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: PCS. (PMID:17383919)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:222748)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: IEA. (OMIM:222748)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 4/20. (PMID:20362666)
- Exercise-induced muscle cramps (HP:0003710): Sudden and involuntary contractions of one or more muscles brought on by physical exertion. Evidence: PCS. Frequency: 1/1. (PMID:30384990)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: IEA. (OMIM:222748)