Entry Search - 612035 614096 615889 - OMIM
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Search: '612035 614096 615889 (Search in: MIM number)'
Results: 3 entries.

1:
* 612035. ALANYL-tRNA SYNTHETASE 2; AARS2
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:44,298,731-44,313,347
Matching terms: 612035
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6p21.1 Combined oxidative phosphorylation deficiency 8 614096 AR 3
Leukoencephalopathy, progressive, with ovarian failure 615889 AR 3
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ICD+
SNOMEDCT: 733600007
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2:
# 614096. COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
Cytogenetic location: 6p21.1
Matching terms: 614096
► 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
6p21.1 Combined oxidative phosphorylation deficiency 8 614096 AR 3 AARS2 612035
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Combined oxidative phosphorylation deficiency - PS609060 - 59 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p34.2 Combined oxidative phosphorylation deficiency 35 AR 3 617873 TRIT1 617840
1q21.2 Combined oxidative phosphorylation deficiency 21 AR 3 615918 TARS2 612805
1q25.1 ?Combined oxidative phosphorylation deficiency 38 AR 3 618378 MRPS14 611978
2p16.1 Combined oxidative phosphorylation deficiency 13 AR 3 614932 PNPT1 610316
2p11.2 Combined oxidative phosphorylation deficiency 51 AR 3 619057 PTCD3 614918
2q33.1 ?Combined oxidative phosphorylation deficiency 25 AR 3 616430 MARS2 609728
2q33.1 Combined oxidative phosphorylation deficiency 53 AR 3 619423 C2orf69 619219
2q33.3 Combined oxidative phosphorylation deficiency 44 AR 3 618855 FASTKD2 612322
2q36.1 Combined oxidative phosphorylation deficiency 16 AR 3 615395 MRPL44 611849
3p25.2 Combined oxidative phosphorylation deficiency 56 AR 3 620139 TAMM41 614948
3p25.1 ?Combined oxidative phosphorylation deficiency 50 AR 3 619025 MRPS25 611987
3p14.1 Combined oxidative phosphorylation deficiency 28 AR 3 616794 SLC25A26 611037
3q11.2 Combined oxidative phosphorylation deficiency 48 AR 3 619012 NSUN3 617491
3q12.3 Combined oxidative phosphorylation deficiency 30 AR 3 616974 TRMT10C 615423
3q22.1 Combined oxidative phosphorylation deficiency 9 AR 3 614582 MRPL3 607118
3q23 Combined oxidative phosphorylation deficiency 5 AR 3 611719 MRPS22 605810
3q25.32 Combined oxidative phosphorylation deficiency 1 AR 3 609060 GFM1 606639
4q31.3 ?Combined oxidative phosphorylation deficiency 41 AR 3 618838 GATB 603645
5q13.3 Combined oxidative phosphorylation deficiency 39 AR 3 618397 GFM2 606544
6p25.1 ?Combined oxidative phosphorylation deficiency 19 AR 3 615595 LYRM4 613311
6p25.1 Combined oxidative phosphorylation deficiency 14 AR 3 614946 FARS2 611592
6p21.33 Combined oxidative phosphorylation deficiency 20 AR 3 615917 VARS2 612802
6p21.1 Combined oxidative phosphorylation deficiency 8 AR 3 614096 AARS2 612035
6q13 Combined oxidative phosphorylation deficiency 10 AR 3 614702 MTO1 614667
6q21 Combined oxidative phosphorylation deficiency 40 AR 3 618835 QRSL1 617209
6q25.1 Combined oxidative phosphorylation deficiency 11 AR 3 614922 RMND1 614917
8q21.13 ?Combined oxidative phosphorylation deficiency 47 AR 3 618958 MRPS28 611990
9q34.3 Combined oxidative phosphorylation deficiency 36 AR 3 617950 MRPS2 611971
10q22.2 Combined oxidative phosphorylation deficiency 2 AR 3 610498 MRPS16 609204
10q26.11 Combined oxidative phosphorylation deficiency 18 AR 3 615578 SFXN4 615564
11q14.1 Combined oxidative phosphorylation deficiency 24 AR 3 616239 NARS2 612803
12q14.1 Combined oxidative phosphorylation deficiency 3 AR 3 610505 TSFM 604723
12q24.31 Combined oxidative phosphorylation deficiency 42 AR 3 618839 GATC 617210
12q24.31 Combined oxidative phosphorylation deficiency 7 AR 3 613559 MTRFR 613541
13q12.12 Combined oxidative phosphorylation deficiency 31 AR 3 617228 MIPEP 602241
13q34 Combined oxidative phosphorylation deficiency 27 AR 3 616672 CARS2 612800
14q13.2 Combined oxidative phosphorylation deficiency 54 AR 3 619737 PRORP 609947
14q23.1 Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay AR 3 616539 TRMT5 611023
15q22.31 Combined oxidative phosphorylation deficiency 15 AR 3 614947 MTFMT 611766
16p13.3 Combined oxidative phosphorylation deficiency 32 AR 3 617664 MRPS34 611994
16p12.2 Combined oxidative phosphorylation deficiency 12 AR 3 614924 EARS2 612799
16p11.2 Combined oxidative phosphorylation deficiency 4 AR 3 610678 TUFM 602389
17p13.3 ?Combined oxidative phosphorylation deficiency 43 AR 3 618851 TIMM22 607251
17p13.2 Combined oxidative phosphorylation deficiency 33 AR 3 617713 C1QBP 601269
17p12 Combined oxidative phosphorylation deficiency 17 AR 3 615440 ELAC2 605367
17p11.2 ?Combined oxidative phosphorylation deficiency 49 AR 3 619024 MIEF2 615498
17q11.2 Combined oxidative phosphorylation deficiency 58 AR 3 620451 TEFM 616422
17q22 ?Combined oxidative phosphorylation deficiency 46 AR 3 618952 MRPS23 611985
17q25.1 ?Combined oxidative phosphorylation deficiency 34 AR 3 617872 MRPS7 611974
17q25.3 ?Combined oxidative phosphorylation deficiency 45 AR 3 618951 MRPL12 602375
18q21.1 ?Combined oxidative phosphorylation deficiency 22 AR 3 616045 ATP5F1A 164360
19p13.3 Combined oxidative phosphorylation deficiency 55 AD, AR 3 619743 POLRMT 601778
19p13.3 Combined oxidative phosphorylation deficiency 37 AR 3 618329 MICOS13 616658
19p13.11 Combined oxidative phosphorylation deficiency 23 AR 3 616198 GTPBP3 608536
20p12.3 Combined oxidative phosphorylation deficiency 57 AR 3 620167 CRLS1 608188
20q11.22 Combined oxidative phosphorylation deficiency 52 AR 3 619386 NFS1 603485
21q21.3 Combined oxidative phosphorylation deficiency 59 AR 3 620646 MRPL39 611845
22q12.3 ?Combined oxidative phosphorylation deficiency 29 AR 3 616811 TXN2 609063
Xq26.1 Combined oxidative phosphorylation deficiency 6 XLR 3 300816 AIFM1 300169
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ICD+
SNOMEDCT: 733600007
ORPHA: 319504
DO: 0111479
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3:
# 615889. LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP
Cytogenetic location: 6p21.1
Matching terms: 615889
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6p21.1 Leukoencephalopathy, progressive, with ovarian failure 615889 AR 3 AARS2 612035
▲ Close
ICD+
ORPHA: 135, 99853
DO: 0070396
▲ Close
Search: 612035 614096 615889 (Search in: MIM number)
Results: 3 entries.

1:
* 612035. ALANYL-tRNA SYNTHETASE 2; AARS2
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:44,298,731-44,313,347
Matching terms: 612035

2:
# 614096. COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8
Cytogenetic location: 6p21.1
Matching terms: 614096

3:
# 615889. LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE; LKENP
Cytogenetic location: 6p21.1
Matching terms: 615889


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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