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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:mitochondrial trifunctional protein deficiency
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Accession:DOID:0111277 term browser browse the term
Definition:A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (DO)
Synonyms:exact_synonym: MTPD;   TFP deficiency;   TFPD;   trifunctional protein deficiency;   trifunctional protein deficiency, type 1;   trifunctional protein deficiency, type 2
 narrow_synonym: Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency;   Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency
 broad_synonym: HADHA-related disorder
 related_synonym: TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY
 primary_id: MESH:C566945
 alt_id: OMIM:609015;   RDO:0015150
 xref: GARD:3684;   NCI:C98991;   ORDO:746
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mitochondrial trifunctional protein deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 ISO ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: TFP deficiency
ClinVar PMID:7738175, PMID:7811722, PMID:7846063, PMID:8739956, PMID:8770876, PMID:8865274, PMID:9003853, PMID:9266371, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12442268, PMID:12838198, PMID:12971428, PMID:14630990, PMID:15902556, PMID:18408953, PMID:19852779, PMID:20583174, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22459206, PMID:23430857, PMID:23868323, PMID:24033266, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29519241, PMID:30311386 NCBI chr 6:27,631,364...27,643,076
Ensembl chr 6:27,631,364...27,643,076
JBrowse link
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: TFP deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar Annotator: match by OMIM:609015
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:2019931, PMID:7738175, PMID:7811722, PMID:7846063, PMID:8739956, PMID:8770876, PMID:8865274, PMID:9003853, PMID:9266371, PMID:9739053, PMID:10234607, PMID:10352164, PMID:10518281, PMID:11773547, PMID:11855930, PMID:12237653, PMID:12442268, PMID:12809642, PMID:12838198, PMID:12971428, PMID:14630990, PMID:14694500, PMID:15902556, PMID:16040264, PMID:18408953, PMID:19852779, PMID:20583174, PMID:20814823, PMID:21103935, PMID:21549624, PMID:22459206, PMID:23430857, PMID:23798014, PMID:23868323, PMID:24033266, PMID:25087612, PMID:25525159, PMID:25741868, PMID:25888220, PMID:26024122, PMID:26109258, PMID:26653362, PMID:26676313, PMID:27117294, PMID:27491397, PMID:28492532, PMID:29124685, PMID:29268767, PMID:29519241, PMID:30311386 NCBI chr 6:27,589,840...27,628,921
Ensembl chr 6:27,589,657...27,629,175
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency
ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy
ClinVar Annotator: match by OMIM:609015
OMIM
ClinVar
PMID:8163672, PMID:8651282, PMID:9259266, PMID:12754706, PMID:17143551, PMID:19699128, PMID:19880769, PMID:21549624, PMID:23757202, PMID:24033266, PMID:24664533, PMID:25741868, PMID:26109258, PMID:26197979, PMID:27014569, PMID:28492532, PMID:28515471, PMID:29956646 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        lipid metabolism disorder 900
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 4
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                mitochondrial trifunctional protein deficiency 3
paths to the root

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