Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 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: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:27117294 PMID:27491397 PMID:28492532 PMID:29124685 PMID:29519241 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: 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: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:27117294 PMID:27491397 PMID:28492532 PMID:29124685 PMID:29268767 PMID:29519241 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: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 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        lipid metabolism disorder 906
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 4
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                mitochondrial trifunctional protein deficiency 3
paths to the root