Entry Search - 157640 256000 530000 557000 - OMIM
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Search: '157640 256000 530000 557000 (Search in: MIM number)'
Results: 4 entries.

1:
# 157640. PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1
Cytogenetic location: 15q26.1
Matching terms: 157640
► 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
15q26.1 Progressive external ophthalmoplegia, autosomal dominant 1 157640 AD 3 POLG 174763
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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: 0111521
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2:
# 530000. KEARNS-SAYRE SYNDROME; KSS
Matching terms: 530000
► ICD+  ► Links 
ICD+
SNOMEDCT: 240096000, 25792000, 77835008
ICD10CM: H49.81
ORPHA: 480
DO: 12934
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3:
# 557000. PEARSON MARROW-PANCREAS SYNDROME
Matching terms: 557000
► ICD+  ► Links 
ICD+
SNOMEDCT: 237985009
ORPHA: 699
DO: 0060067
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4:
# 256000. LEIGH SYNDROME, NUCLEAR; NULS
Matching terms: 256000
► ICD+  ► Links 
ICD+
SNOMEDCT: 29570005
ORPHA: 506
DO: 3652
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Search: 157640 256000 530000 557000 (Search in: MIM number)
Results: 4 entries.

1:
# 157640. PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1; PEOA1
Cytogenetic location: 15q26.1
Matching terms: 157640

2:
# 530000. KEARNS-SAYRE SYNDROME; KSS
Matching terms: 530000

3:
# 557000. PEARSON MARROW-PANCREAS SYNDROME
Matching terms: 557000

4:
# 256000. LEIGH SYNDROME, NUCLEAR; NULS
Matching terms: 256000


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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