Entry Search - 604712 612075 613077 - OMIM
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Search: '604712 612075 613077 (Search in: MIM number)'
Results: 3 entries.

1:
* 604712. RIBONUCLEOTIDE REDUCTASE REGULATORY TP53 INDUCIBLE SUBUNIT M2B; RRM2B
Cytogenetic location: 8q22.3, Genomic coordinates (GRCh38): 8:102,204,501-102,238,961
Matching terms: 604712
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
8q22.3 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 AR 3
Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 AR 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 AD 3
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 268315 AR 3
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ICD+
SNOMEDCT: 765100000
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2:
# 613077. PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5
Cytogenetic location: 8q22.3
Matching terms: 613077
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
8q22.3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 613077 AD 3 RRM2B 604712
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Progressive external ophthalmoplegia with mtDNA deletions - PS157640 - 12 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p25.3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 AR 3 616479 RNASEH1 604123
2p13.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 AR 3 617070 DGUOK 601465
4q35.1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 AD 3 609283 SLC25A4 103220
8q22.3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 AD 3 613077 RRM2B 604712
10q21.3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 AD 3 615156 DNA2 601810
10q24.31 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 AD 3 609286 TWNK 606075
11p15.4 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6 AD, AR 3 620647 RRM1 180410
15q26.1 Progressive external ophthalmoplegia, autosomal recessive 1 AR 3 258450 POLG 174763
15q26.1 Progressive external ophthalmoplegia, autosomal dominant 1 AD 3 157640 POLG 174763
16q21 ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 AR 3 617069 TK2 188250
17p11.2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 AR 3 618098 TOP3A 601243
17q23.3 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 AD 3 610131 POLG2 604983
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ICD+
ORPHA: 254892
DO: 0111518
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3:
# 612075. MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B, INCLUDED
Cytogenetic locations: 8q22.3,
Matching terms: 612075
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
8q22.3 Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075 AR 3 RRM2B 604712
8q22.3 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075 AR 3 RRM2B 604712
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Mitochondrial DNA depletion syndrome - PS603041 - 25 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q42.13 Mitochondrial DNA depletion syndrome 21 AR 3 621071 GUK1 139270
2p23.3 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) AR 3 256810 MPV17 137960
2p13.1 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) AR 3 251880 DGUOK 601465
2p11.2 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) AR 3 245400 SUCLG1 611224
3q29 ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) AR 3 616896 OPA1 605290
4q35.1 Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD AD 3 617184 SLC25A4 103220
4q35.1 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR AR 3 615418 SLC25A4 103220
6q16.1-q16.2 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) AR 3 615471 FBXL4 605654
7p22.3 Mitochondrial DNA depletion syndrome 17 AR 3 618567 MRM2 606906
7q34 Sengers syndrome AR 3 212350 AGK 610345
8q22.3 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) AR 3 612075 RRM2B 604712
8q22.3 Mitochondrial DNA depletion syndrome 8B (MNGIE type) AR 3 612075 RRM2B 604712
10q21.1 ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) AR 3 617156 TFAM 600438
10q24.31 Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) AR 3 271245 TWNK 606075
13q14.2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) AR 3 612073 SUCLA2 603921
14q13.3 ?Mitochondrial DNA depletion syndrome 18 AR 3 618811 SLC25A21 607571
15q26.1 Mitochondrial DNA depletion syndrome 4B (MNGIE type) AR 3 613662 POLG 174763
15q26.1 Mitochondrial DNA depletion syndrome 4A (Alpers type) AR 3 203700 POLG 174763
16q21 Mitochondrial DNA depletion syndrome 2 (myopathic type) AR 3 609560 TK2 188250
17q12 Mitochondrial DNA depletion syndrome 20 (MNGIE type) AR 3 619780 LIG3 600940
17q23.3 ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) AR 3 619425 POLG2 604983
17q23.3 ?Mitochondrial DNA depletion syndrome 16 (hepatic type) AR 3 618528 POLG2 604983
17q25.3 ?Mitochondrial DNA depletion syndrome 19 AR 3 618972 SLC25A10 606794
20p11.23 Mitochondrial DNA depletion syndrome 11 AR 3 615084 MGME1 615076
22q13.33 Mitochondrial DNA depletion syndrome 1 (MNGIE type) AR 3 603041 TYMP 131222
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ICD+
SNOMEDCT: 765100000
ORPHA: 254803, 255235, 298
DO: 0070331, 0080127
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Search: 604712 612075 613077 (Search in: MIM number)
Results: 3 entries.

1:
* 604712. RIBONUCLEOTIDE REDUCTASE REGULATORY TP53 INDUCIBLE SUBUNIT M2B; RRM2B
Cytogenetic location: 8q22.3, Genomic coordinates (GRCh38): 8:102,204,501-102,238,961
Matching terms: 604712

2:
# 613077. PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5
Cytogenetic location: 8q22.3
Matching terms: 613077

3:
# 612075. MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY); MTDPS8A
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), INCLUDED; MTDPS8B, INCLUDED
Cytogenetic locations: 8q22.3,
Matching terms: 612075


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025