Phenotypes associated with the disease ribose-5-P isomerase deficiency (OMIM:608611):
- Increased level of D-threitol in urine (HP:0410059): An increase in the level of D-threitol in the urine. Evidence: PCS. (PMID:14988808)
- Elevated circulating D-threitol concentration (HP:0410057): The concentration of D-threitol in the blood circulation is above the upper limit of normal. Evidence: PCS. (PMID:14988808)
- Increased CSF D-threitol concentration (HP:0410058): The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. Evidence: PCS. (PMID:14988808)
- 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:608611)
- Decreased level of erythritol in urine (HP:0410055): A decrease in the level of erythritol in the urine. Evidence: IEA. (PMID:14988808)
- Polyneuropathy (HP:0001271): A generalized disorder of peripheral nerves. Evidence: TAS. (OMIM:608611)
- Decreased CSF erythritol concentration (HP:0410056): Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. Evidence: IEA. (PMID:14988808)
- Increased CSF xylitol concentration (HP:0410075): The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. Evidence: PCS. (PMID:14988808)
- 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:608611)
- Increased CSF ribose concentration (HP:0410073): The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. Evidence: PCS. (PMID:14988808)
- Increased level of xylitol in urine (HP:0410074): An increase in the level of xylitol in the urine. Evidence: PCS. (PMID:14988808)
- Increased CSF ribitol concentration (HP:0410071): The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. Evidence: PCS. (PMID:14988808)
- Increased level of ribose in urine (HP:0410072): An increase in the level of ribose in the urine. Evidence: PCS. (PMID:14988808)
- Increased level of ribitol in urine (HP:0410070): An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. Evidence: PCS. (PMID:14988808)
- Sensorimotor neuropathy (HP:0007141). Evidence: IEA. (OMIM:608611)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:608611)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: PCS. Frequency: 1/1. (PMID:31056085)
- Elevated circulating ribitol concentration (HP:0025550): The concentration of ribitol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 20/20. (PMID:14988808)
- Leukoencephalopathy (HP:0002352): This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. Evidence: IEA. (OMIM:608611)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: IEA. (OMIM:608611)
- Global developmental delay (HP:0001263): 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: PCS. Frequency: 11/11. (OMIM:608611;PMID:31056085)
- Elevated brain polyol compounds by MRS (HP:0034894): An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS). Evidence: TAS. (OMIM:608611)
- 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:608611)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:608611)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: IEA. (OMIM:608611)