Phenotypes associated with the disease isolated sedoheptulokinase deficiency (OMIM:617213):
- Increased urinary sedoheptulose (HP:0025157): An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group. Evidence: PCS. Frequency: 2/2. (PMID:25647543)
- 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. Frequency: 2/2. (PMID:25647543)