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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
 primary_id: MESH:C566945
 alt_id: OMIM:609015;   RDO:0015150
 xref: GARD:3684;   ORDO:746
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mitochondrial trifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Garem2 GRB2 associated regulator of MAPK1 subtype 2 JBrowse link 6 27,631,364 27,643,076 RGD:8554872
G Hadha hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha JBrowse link 6 27,589,840 27,628,921 RGD:7240710
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta JBrowse link 6 27,555,408 27,589,539 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        lipid metabolism disorder 734
          Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 3
            mitochondrial trifunctional protein deficiency 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                mitochondrial trifunctional protein deficiency 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.