Mitochondria Phenome Knowledgebase

Gene Symbol FH
Ensembl ID ENSG00000091483 Entrez 2271
Gene Alias HLRCC; LRCC; MCL; MCUL1 Subcellular Locations Cytoplasm Mitochondria Mitochondrial-matrix
Map Position 1q42.1 Subcell PMIDs 8200987
OMIM Gene 136850 Protein Complex Tricarboxylic acid cycle (TCA)
Swissprot ID P07954 Swissprot Description Fumarate hydratase, mitochondrial precursor
OMIM Disease Hereditary multiple cutaneous leiomyoma (MCUL) [150800]; Hereditary leiomyomatosis and renal cell cancer (HLRCC) [605839]; Deficiency of fumarate hydratase (FHD) [606812]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
FH 150800 Neoplasms oncologic #11865300 #15724016
FH 605839 Neoplasms oncologic #11248088 #11865300 #15724016 #15741255 #16155190 #16477632
FH 605839 Leukemia-Lymphoma non hodgkin lymphoma; multiple myeloma oncologic 16155190
FH 150800 Connective-and-soft-tissue-neoplasms oncologic #11865300 #15724016
FH 605839 Connective-and-soft-tissue-neoplasms oncologic #11248088 #11865300 #15724016 #15741255 #16155190 #16477632
FH 605839 Lipoma multiple lipomata; angiolipomata oncologic 15724016
FH 150800 Muscle-tissue-neoplasm oncologic #11865300 #15724016
FH 605839 Muscle-tissue-neoplasm oncologic #11248088 #11865300 #15724016 #15741255 #16155190 #16477632
FH 150800 Leiomyoma cutaneous; uterine; fibroids; uterine fibroids; fibroid tumor; benign; smooth muscle tumor; leiomyomata; leiomyomatosis oncologic 11865300 15724016
FH 605839 Leiomyoma cutaneous; uterine; fibroids; uterine fibroids; fibroid tumor; benign; smooth muscle tumor; piloleiomyomas oncologic 11248088 11865300 15724016 15741255 16155190
FH 605839 Leiomyosarcoma uterine leiomyosarcoma; ULMS oncologic 11248088 16155190 16477632
FH 605839 Breast-neoplasms lobular infiltrating; malignant; benign oncologic 11248088 15724016 16155190
FH 605839 Urogenital-neoplasms bladder carcinoma; urinary bladder tumor; transitional cell carcinoma oncologic 11248088 #11865300 15724016 16155190
FH 605839 Renal-cell-carcinoma solitary; papillary; tubulopapillary oncologic 11248088 11865300 16155190
FH 605839 Musculoskeletal-diseases musculoskeletal #15741255
FH 606812 Musculoskeletal-diseases musculoskeletal #8200987 #9635293 #16151915 #16156009
FH 605839 Bone-diseases musculoskeletal #15741255
FH 606812 Bone-diseases musculoskeletal #8200987
FH 605839 Metabolic-bone-diseases osteopenia; bone mineral density abnormal; femoral neck musculoskeletal 15741255
FH 605839 Osteoporosis bone mineral density abnormal; lateral spine musculoskeletal 15741255
FH 606812 Spinal-diseases kyphosis; major musculoskeletal 8200987
FH 606812 Foot-deformities equinovarus deformation; foot deformations musculoskeletal 8200987
FH 606812 Craniofacial-abnormalities musculoskeletal #8200987 #9635293 #16151915 #16156009
FH 606812 Microcephaly progressive musculoskeletal 8200987 9635293 16151915 16156009
FH 606812 Digestive-system-diseases gastrointestinal #2515378 #8200987 #9635293
FH 606812 Biliary-tract-diseases gastrointestinal #2515378
FH 606812 Cholestasis bile duct abnormal; bile ductular proliferation; marked cholestasis gastrointestinal 2515378
FH 606812 Liver-diseases vacuolization of hepatocytes; inflammation; infiltrates; interlobular infiltrates; liver fibrosis; hepatocellular damage gastrointestinal 2515378 8200987
FH 606812 Liver-enzymes-abnormal GGT elevated; AST elevated gastrointestinal 2515378 8200987
FH 606812 Feeding-difficulties poor feeding gastrointestinal 2515378 9635293
FH 606812 Vomiting gastrointestinal 2515378 8200987
FH 606812 Respiratory-tract-diseases respiratory #16151915
FH 606812 Respiration-disorders prolonged apnoeas respiratory 16151915
FH 606812 Nervous-system-diseases neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FH 606812 Central-nervous-system-diseases neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FH 606812 Brain-diseases neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FH 606812 Encephalopathy encephalopathy; metabolic neurologic 8200987 15221078
FH 606812 Seizures generalized; epilepsy; spasms; opisthotonic posture; hyperextension; opisthotonos neurologic 9635293 15221078 16151915 16156009
FH 606812 Hydrocephalus moderate communicating hydrocephalus neurologic 2515378 9635293 15221078
FH 606812 Cerebral-atrophy cerebral atrophy; cortical atrophy; ventricle dilatations neurologic 1432428 9635293 15221078 16151915
FH 606812 Corpus-callosum-hypoplasia corpus callosum agenesis neurologic 2515378 9635293 16156009
FH 606812 Cortical-dysplasia polymicrogyria neurologic 16156009
FH 606812 Electroencephalogram-abnormal hypsarrhytmia; background activity abnormal; spike wave discharges neurologic 1432428 15221078 16151915
FH 606812 Movement-disorders bizarre postures; movement bursts; upper limbs; hypertonic episodes neurologic #1432428 8200987 #15221078 16151915
FH 606812 Dystonic-disorders dystonic posturing; hypertonic posturing; hands; lower extremites; dystonic tetraplegia neurologic 1432428 8200987 15221078 16151915
FH 606812 Athetosis athetoid movements; arms; hands neurologic 16151915
FH 606812 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; ventricle abnormalities; hypomyelination; dilatation of pericerebral spaces; cystic regions; cerebral ventricles dilated; periventricular cysts neurologic 8200987 9635293 15221078 16151915
FH 606812 Neurologic-manifestations neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FH 606812 Neurobehavioral-manifestations neurologic #1432428 #2515378 #15221078 #16151915 #16156009
FH 606812 Speech-disorders neurologic #1432428
FH 606812 Dysarthria dysarthric speech neurologic 1432428
FH 606812 Mental-retardation neurologic 16156009
FH 606812 Developmental-delay psychomotor retardation neurologic 1432428 8200987 9635293 15221078 16156009
FH 606812 Irritability high pitched crying; irritable; excessive crying neurologic 1432428 2515378 16151915
FH 606812 Lethargy lethargic; lethargic at birth neurologic 15221078
FH 606812 Neuromuscular-manifestations neurologic #1432428 #2515378 #8200987 #9635293 #15221078 #16151915 #16156009
FH 606812 Muscle-hypertonia limb hypertonia neurologic 8200987
FH 606812 Muscle-spasticity spasticity neurologic 2515378
FH 606812 Muscle-hypotonia muscular hypotonia; trunk hypotonia; congenital hypotonia neurologic 1432428 8200987 9635293 15221078 16151915 16156009
FH 606812 Muscular-atrophy type 2 fiber hypertrophy; type 2 fiber predominance; fiber diameters abnormal neurologic 8200987
FH 606812 Paralysis-Paresis dystonic tetraplegia; quadriplegia neurologic 15221078
FH 606812 Reflexes-abnormal neurologic #1432428 #16151915
FH 606812 Hyperreflexia hyperexcitability; brisk; deep tendon reflexes abnormal; hyperactive reflexes neurologic 1432428 16151915
FH 606812 Pyramidal-tract-signs extensor plantar response; babinski sign neurologic 16151915
FH 606812 Peripheral-nervous-system-diseases neurologic #1432428
FH 606812 Polyneuropathies demyelinating neuropathy; axonal neuropathy; peripheral neurologic 1432428
FH 605839 Genitourinary-diseases genitourinary #15724016 #16155190
FH 606812 Genitourinary-diseases genitourinary #9635293 #15221078
FH 605839 Urologic-diseases genitourinary #16155190
FH 605839 Kidney-diseases genitourinary #16155190
FH 605839 Cystic-kidney-diseases kidney cysts; benign; multiple cysts genitourinary 16155190
FH 605839 Female-genital-diseases genitourinary #15724016
FH 606812 Female-genital-diseases genitourinary #9635293 #15221078
FH 605839 Menstruation-disturbances menorrhagia; pelvic pain genitourinary 15724016
FH 605839 Pregnancy-complications obstetric risks; difficulty achieving conception; miscarriage genitourinary 15724016
FH 606812 Pregnancy-complications hydramnios; polyhydramnios; premature birth genitourinary 9635293 15221078
FH 605839 Cardiovascular-diseases cardiovascular #15741255
FH 605839 Vascular-diseases cardiovascular #15741255
FH 605839 Hypertension hypertensive cardiovascular 15741255
FH 606812 Hematologic-diseases hematologic #8200987
FH 606812 Leukocyte-disorders hematologic #8200987
FH 606812 Leukopenia neutropenia hematologic 8200987
FH 605839 Skin-diseases erythema; pain; painful cutaneous leiomyomas; painful lesions; cutaneous lesions; clustered lesions; scattered lesions; intradermal papules dermatologic 15724016 15741255
FH 605839 Pruritus skin leiomyomata; pruritus; itching; scarring dermatologic 15724016 15741255
FH 605839 Metabolic-diseases metabolic #15741255
FH 606812 Metabolic-diseases metabolic #1432428 #2515378 #8200987 #15221078 #16151915
FH 606812 Acid-base-imbalance metabolic #8200987
FH 606812 Acidosis lactic acidosis; CSF abnormal metabolic 8200987
FH 605839 Dyslipidemias metabolic #15741255
FH 605839 Hyperlipidemia metabolic 15741255
FH 605839 Glucose-metabolism-disorders metabolic #15741255
FH 605839 Hyperglycemia fasting; glucose tolerance test metabolic 15741255
FH 606812 Hyperammonemia ammonium elevated metabolic 2515378
FH 606812 Hyperbilirubinemia conjugated hyperbilirubinemia metabolic 2515378
FH 606812 Aminoacid-levels-abnormal aspartate decreased; asparagine decreased; elevated alanine; elevated valine; elevated glycine; elevated threonine; elevated serine; elevated phosphoethanolamine metabolic 8200987
FH 606812 Aminoaciduria generalized metabolic 8200987
FH 606812 Organic-acids-abnormal lactic aciduria; fumaric aciduria; elevated tricarboxylic acid cycle intermediates metabolic 1432428 2515378 8200987 15221078 16151915
FH 606812 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; fumaric aciduria metabolic 1432428 2515378 8200987 15221078 16151915
FH 605839 Endocrine-system-diseases endocrinologic #15741255 #16155190
FH 605839 Adrenal-gland-diseases endocrinologic #15741255 #16155190
FH 605839 Adrenal-gland-neoplasms endocrinologic #15741255 #16155190
FH 605839 Adrenocortical-adenoma adrenocortical tumor; adrenal gland adenomas; bilateral; macronodular adrenocortical disease endocrinologic 15741255 16155190
FH 605839 Adrenal-hyperplasia cortical hyperplasia; diffuse; nodular proliferation; adrenal enlargement endocrinologic 15741255
FH 605839 Adrenocortical-hyperfunction endocrinologic #15741255
FH 605839 Hypercortisolism cortisol response abnormal; urinary free cortisol elevated; atypical subclinical cushing syndrome endocrinologic 15741255
FH 605839 Pituitary-diseases corticotropin levels abnormal; ACTH decreased; low; undetectable endocrinologic 15741255
FH 606812 Immune-system-diseases immunologic #2515378 #9635293
FH 606812 Infections viral infections; varicella infections; chickenpox immunologic 2515378 9635293
FH 605839 Exercise-intolerance miscellaneous 15741255
FH 606812 Growth-disorders miscellaneous #1432428 #2515378 #8200987 #9635293 #16151915 #16156009
FH 606812 Failure-to-thrive poor sucking; failed to thrive miscellaneous 1432428 2515378 8200987 9635293 16151915 16156009
FH 606812 Dysmorphism-and-abnormalities facial dysmorphisms; cranial dysmorphisms; hypertelorism; frontal bossing; depressed nasal bridge; dandy walker malformation; cerebral malformations miscellaneous 2515378 9635293 16156009
FH 605839 Mitochondria-abnormal increased numbers miscellaneous 15741255

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