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GENE - TERM ANNOTATION REPORT

RGD ID: 733096
Species: Mus musculus
RGD Object: Gene
Symbol: Hmbs
Name: hydroxymethylbilane synthase
Acc ID: DOID:9008772
Term: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
Definition: This disease is an autosomal recessive disorder characterized by the onset of variable and slowly progressive neurologic abnormalities in childhood or adolescence with survival to late adulthood. Features include spastic paraparesis, cerebellar ataxia, peripheral axonal neuropathy, ocular abnormalities, and leukoencephalopathy affecting the deep cerebral white matter on brain imaging. Laboratory studies show variably increased plasma and urinary levels of delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin due to decreased HMBS enzyme activity.
Definition Source(s): OMIM:620711
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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