Entry Search - 600890 609015 609016 620300 - OMIM
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Search: '600890 609015 609016 620300 (Search in: MIM number)'
Results: 4 entries.

1:
# 609015. MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY, INCLUDED
Cytogenetic location: 2p23.3
Matching terms: 609015
► 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
2p23.3 Mitochondrial trifunctional protein deficiency 1 609015 AR 3 HADHA 600890
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Mitochondrial trifunctional protein deficiency - PS609015 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p23.3 Mitochondrial trifunctional protein deficiency 1 AR 3 609015 HADHA 600890
2p23.3 Mitochondrial trifunctional protein deficiency 2 AR 3 620300 HADHB 143450
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ICD+
SNOMEDCT: 237999008
ORPHA: 746
DO: 0070619
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2:
# 609016. LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Cytogenetic locations: 2p23.3,
Matching terms: 609016
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
2p23.3 LCHAD deficiency 609016 AR 3 HADHA 600890
2p23.3 HELLP syndrome, maternal, of pregnancy 609016 AR 3 HADHA 600890
2p23.3 Fatty liver, acute, of pregnancy 609016 AR 3 HADHA 600890
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ICD+
SNOMEDCT: 726021008
ORPHA: 5
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3:
* 600890. HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
Cytogenetic location: 2p23.3, Genomic coordinates (GRCh38): 2:26,190,635-26,244,632
Matching terms: 600890
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
2p23.3 Fatty liver, acute, of pregnancy 609016 AR 3
HELLP syndrome, maternal, of pregnancy 609016 AR 3
LCHAD deficiency 609016 AR 3
Mitochondrial trifunctional protein deficiency 1 609015 AR 3
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ICD+
SNOMEDCT: 237999008, 726021008
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4:
# 620300. MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2; MTPD2
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY, INCLUDED
Cytogenetic location: 2p23.3
Matching terms: 620300
► 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
2p23.3 Mitochondrial trifunctional protein deficiency 2 620300 AR 3 HADHB 143450
▲ Close
Mitochondrial trifunctional protein deficiency - PS609015 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
2p23.3 Mitochondrial trifunctional protein deficiency 1 AR 3 609015 HADHA 600890
2p23.3 Mitochondrial trifunctional protein deficiency 2 AR 3 620300 HADHB 143450
▲ Close
Links
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MGI Mouse Phenotype
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ICD+
DO: 0060999
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Search: 600890 609015 609016 620300 (Search in: MIM number)
Results: 4 entries.

1:
# 609015. MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1; MTPD1
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY, INCLUDED
Cytogenetic location: 2p23.3
Matching terms: 609015

2:
# 609016. LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
Cytogenetic locations: 2p23.3,
Matching terms: 609016

3:
* 600890. HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT; HADHA
Cytogenetic location: 2p23.3, Genomic coordinates (GRCh38): 2:26,190,635-26,244,632
Matching terms: 600890

4:
# 620300. MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2; MTPD2
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY, INCLUDED
Cytogenetic location: 2p23.3
Matching terms: 620300


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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