Details of Disease

General Information of Disease (ID: DISHB6I4)

Disease Name Beta-ureidopropionase deficiency
Synonyms UPB1D; BETA-ureidopropionase deficiency; beta-ureidopropionase deficiency; Beta-alanine synthase deficiency
Definition
Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal).
Disease Hierarchy
DIS2T2XO: Inborn disorder of pyrimidine metabolism
DISHB6I4: Beta-ureidopropionase deficiency
Disease Identifiers
MONDO ID
MONDO_0013164
MESH ID
C563210
UMLS CUI
C1291512
OMIM ID
613161
MedGen ID
226944
Orphanet ID
65287
SNOMED CT ID
124511000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UPB1 OTAIY2T8 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.