Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/621071
http://purl.bioontology.org/ontology/OMIM/621071
Preferred Name

MITOCHONDRIAL DNA DEPLETION SYNDROME 21
Synonyms
MTDPS21
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MTDPS21
prefLabel
MITOCHONDRIAL DNA DEPLETION SYNDROME 21
Gene Symbol
GUK1
MTDPS21
Scope Statement
Based on a report of 4 patients (last curated January 2025) [MISCELLANEOUS]
Chronic fatigue [MISCELLANEOUS]
Heat intolerance [MISCELLANEOUS]
Caused by mutation in the guanylate kinase 1 gene (GUK1, 139270.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000329
http://purl.bioontology.org/ontology/OMIM/MTHU000068
http://purl.bioontology.org/ontology/OMIM/MTHU079355
http://purl.bioontology.org/ontology/OMIM/MTHU070193
http://purl.bioontology.org/ontology/OMIM/MTHU000203
http://purl.bioontology.org/ontology/OMIM/MTHU079352
http://purl.bioontology.org/ontology/OMIM/MTHU046632
http://purl.bioontology.org/ontology/OMIM/MTHU079354
http://purl.bioontology.org/ontology/OMIM/MTHU040924
http://purl.bioontology.org/ontology/OMIM/MTHU000204
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU079351
http://purl.bioontology.org/ontology/OMIM/MTHU032778
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU005171
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU021760
http://purl.bioontology.org/ontology/OMIM/MTHU078440
http://purl.bioontology.org/ontology/OMIM/MTHU055931
http://purl.bioontology.org/ontology/OMIM/MTHU079353
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tui
T047
Gene Locus
1q32.1-q42
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
621071
Semantic type UMLS property
Has inheritance type
cui
C5975599
OMIM Entry Type
3
OMIM MimType Value
pound
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