Mitochondria Phenome Knowledgebase

Gene Symbol DMPK
Ensembl ID ENSG00000104936 Entrez 1760
Gene Alias DM; DM1; DM1PK; DMK; MDPK; MT-PK Subcellular Locations Cytoplasm Endoplasmatic-reticulum Mitochondria Mitochondrial-outer-membrane
Map Position 19q13.3 Subcell PMIDs 12897125
OMIM Gene 605377 Protein Complex
Swissprot ID Q09013 Swissprot Description Myotonin-protein kinase
OMIM Disease Dystrophia myotonica 1 (DM1) [160900]

132 Gene-Feature associations for Gene DMPK

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
DMPK 160900 Abdominal-pain colicky pain; colic gastrointestinal 12190956 15770660
DMPK 160900 Adrenal-gland-diseases cortisol circadian rhythm abnormal; urinary cortisol elevated; cortisol response abnormal; adrenocortical dysfunction endocrinologic 11549662 11874404 #11874420 11888847 12240714
DMPK 160900 Adrenal-insufficiency endocrinologic #11874404 #11874420
DMPK 160900 Adrenocortical-hyperfunction endocrinologic #11549662 #11888847 #12240714
DMPK 160900 Alopecia balding; frontal balding; male balding; hair loss; baldness dermatologic 1301924 7811171 7829609 8122879 8421476 9270517 9576545 9863600 10655320 11284072 11874420 12240714 14726854 15770660
DMPK 160900 Anxiety-disorders psychiatric 11140408 12639730
DMPK 160900 Arrhythmia arrhythmia; heart block; bradycardia; EKG abnormal; tachyarrhythmias; conduction impairment; conduction defects; cardiac conduction defects; arithmias; atrial flutter cardiovascular 1301924 7811171 8122879 8421476 9521960 10733240 10935840 11455309 11874420 12601109 15770660
DMPK 160900 Basal-cell-carcinoma basalioma; basal cell epitheliomas; pigmented; pearly tumor lesions; eyelid; thorax; back oncologic 11284072 14726854
DMPK 160900 Biliary-tract-diseases gastrointestinal #5048431 #5352936 #9445543 #16190971
DMPK 160900 Blepharoptosis variable ptosis; lid drop ophthalmologic 7811171 10935840 11424841 12639730 14726854 15770660
DMPK 160900 Blood-protein-disorders hematologic #12601109 #15770660
DMPK 160900 Bone-diseases calcification of posterior longitudinal ligament; calcification of anterior longitudinal ligament; ossification of ligaments; calcifications; ossifications; bone abnormalities; cranium hyperostosis musculoskeletal 9402536
DMPK 160900 Brain-diseases neurologic #9402536 #10323316 #10385049 #11807903 #12639730 #14521021
DMPK 160900 Cardiorespiratory-arrest high morbidity; high mortality; infection triggered; sudden death; cardiac failure; neonatal death cardiovascular 9270517 9856556 15326270 15770660
DMPK 160900 Cardiovascular-diseases cardiovascular #1301924 #7811171 #8122879 #8421476 #9270517 #9521960 #9856556 #10733240 #10935840 #11455309 #11807903 #11874420 #12601109 #15326270 #15770660
DMPK 160900 Cataract posterior; capsular; sub capsular; iridescent cataract; multicolored; opacities; common feature; lenticular opacities ophthalmologic 1301924 1346925 7829609 8122879 8140064 8421476 9402536 9576545 9728948 9856556 9863600 10391974 10655320 10733240 10935840 11874404 12240714 12601109 12639730 14726854 15770660
DMPK 160900 Central-nervous-system-diseases neurologic #9402536 #10323316 #10385049 #11807903 #12639730 #14521021
DMPK 160900 Cerebral-atrophy progressive; cortical atrophy; subcortical atrophy; ventricle dilatations; ventriculomegaly; brain atrophy neurologic 10323316 10385049 11807903 12639730
DMPK 160900 Cerebral-calcifications basal ganglia calcifications; calcified pilomatrichomas; cranial hyperostosis; ossifications neurologic 9402536 12639730
DMPK 160900 Cerebrovascular-disorders neurologic #14521021
DMPK 160900 Cholelithiasis gastrointestinal 5048431 5352936 16190971
DMPK 160900 Cholestasis gastrointestinal 9445543 16190971
DMPK 160900 Congenital-heart-defects patent ductus arteriosus; ductus arteriosus cardiovascular 11807903
DMPK 160900 Corpus-callosum-hypoplasia corpus callosum atrophy neurologic 10323316 10385049
DMPK 160900 Craniofacial-abnormalities musculoskeletal #9521960
DMPK 160900 Creatine-kinase-abnormal elevated; hyper CK emia miscellaneous 11424841 11874420 15770660
DMPK 160900 Cryptorchidism genitourinary 11807903
DMPK 160900 Deglutition-disorders swallowing difficulties; esophageal hypotonia; esophageal sphincter abnormal; dysphagia; poor swallowing; pharyngoesophageal insfficiency; dyscoordinated swallowing gastrointestinal 9521960 10935840 15770660
DMPK 160900 Dehydration episodes metabolic 9521960
DMPK 160900 Dementia progressive; subcortical; global intellectual decline; attention deficit; concentration deficit; semantic dementia; focal dementia; aging related dementia; cognitive functions abnormal psychiatric 9576545 10733240 12639730 15596617
DMPK 160900 Depressive-disorder anhedonia; physical anhedonia; emotional deficit; monotonous mood; apathy; inability to anticipate pleasure; major depressive episode; depression; depressed; disputed features psychiatric 9576545 9728948 9863600 10367695 12639730
DMPK 160900 Developmental-delay motor delay; mental delay; motor skills delayed neurologic 9521960 11407162 14521021 15770660
DMPK 160900 Diabetes-mellitus insulin resistance; hyperinsulinemia metabolic 10733240 12240714 12601109 12832322 14726854 15770660
DMPK 160900 Diarrhea bile acid malabsorption related; episodes gastrointestinal 9521960 12190956 15770660
DMPK 160900 Digestive-system-diseases gastrointestinal #5048431 #5352936 #9445543 #9521960 #9863600 #10323316 #10935840 #11407162 #11807903 #11874404 #12190956 #14521021 #15326270 #15770660 #16190971
DMPK 160900 Diplopia ophthalmologic 15326270
DMPK 160900 Dysarthria progressive dysarthria neurologic 15326270
DMPK 160900 Dysgammaglobulinemia hypogammaglobulinemia; IgG decreased; IgM decreased hematologic 12601109 15770660
DMPK 160900 Dyslipidemias metabolic #11549662
DMPK 160900 Dysmorphism-and-abnormalities tent shaped mouth; high arched palate; narrow palpebral fissures; excess nuchal skin; micrognathia; skeletal abnormalities; congenital malformations; deformation sequence; course faces; micrognathia; posteriorly rotated ears; facial dysmorphism; trigonal facies miscellaneous 9521960 10690232 11407162 11807903 12601109
DMPK 160900 Electromyography-abnormal myotonic discharges; dive bomber; polyphasic units; myotonic changes; EMG patterns abnormal; electrophysiological features of myotonia neurologic 7811171 7829609 8421476 9402536 9728948 9856556 10323316 10385049 10935840 11407162 11424841 11874420 12240714 14521021 14726854 15326270 15770660
DMPK 160900 Endocrine-system-diseases endocrinologic #1301924 #7811171 #7829609 #7853378 #8122879 #8742989 #9402536 #10733240 #11549662 #11874404 #11874420 #11888847 #12240714 #12601109 #12639730 #15770660
DMPK 160900 Exercise-intolerance generalized fatigue; chronic fatigue; tiredness miscellaneous 7811171 9576545 9856556 9863600
DMPK 160900 Eye-diseases ophthalmologic #1301924 #1346925 #5091121 #7811171 #7829609 #8122879 #8140064 #8421476 #9402536 #9576545 #9728948 #9856556 #9863600 #10391974 #10655320 #10733240 #10935840 #11424841 #11874404 #12240714 #12601109 #12639730 #14726854 #15326270 #15770660
DMPK 160900 Feeding-difficulties feeding problems gastrointestinal 9521960 11407162 11807903 14521021 15326270
DMPK 160900 Female-genital-diseases genitourinary #8140064 #9856556 #9863600 #10690232 #11424841 #11807903
DMPK 160900 Foot-deformities talipes; talipes equinovarus; foot deformities; contractures; high arched palate musculoskeletal 9521960 9863600 11407162 15326270 15770660
DMPK 160900 Gait-disorders stumbles; falls; abnormal gait patterns; abnormal hip motion neurologic 7811171 8421476 10391974 11284072 12240714 12639730
DMPK 160900 Gastrointestinal-diseases incontinence; fecal; irritable bowel syndrome; digestive problems; early satiety gastrointestinal 9445543 #9521960 9863600 #10323316 #10935840 #11807903 11874404 12190956 15770660
DMPK 160900 Genitourinary-diseases genitourinary #1301924 #8140064 #8742989 #9856556 #9863600 #10655320 #10690232 #11424841 #11807903 #15770660
DMPK 160900 Glandular-and-epithelial-neoplasms oncologic #8891827 #9270517 #11284072 #14726854
DMPK 160900 Glucose-metabolism-disorders metabolic #10733240 #11455309 #11549662 #11874404 #11888847 #12240714 #12601109 #12832322 #14726854 #15770660
DMPK 160900 Gonadal-disorders endocrinologic #1301924 #7811171 #7829609 #8122879 #8742989 #10733240 #11549662 #11874404 #12601109 #12639730 #15770660
DMPK 160900 Growth-deficiency growth retardation miscellaneous 9856556
DMPK 160900 Growth-disorders miscellaneous #9856556
DMPK 160900 Hair-diseases dermatologic #1301924 #7811171 #7829609 #8122879 #8421476 #9270517 #9576545 #9863600 #10655320 #11284072 #11874420 #12240714 #14726854 #15770660
DMPK 160900 Hearing-disorders deafness; auditory problems neurologic 9863600 12639730
DMPK 160900 Heart-diseases cardiovascular #1301924 #7811171 #8122879 #8421476 #9521960 #10733240 #10935840 #11455309 #11874420 #12601109 #15770660
DMPK 160900 Hematologic-diseases hematologic #12601109 #15770660
DMPK 160900 Hypercortisolism elevated circulating cortisol concentrations; cortisol metabolism impaired; impaired peripheral clearance of cortisol; cortisol concentrations increased; urinary excretion of free cortisol elevated endocrinologic 11549662 11888847 12240714
DMPK 160900 Hyperglycemia metabolic 12832322
DMPK 160900 Hyperhidrosis variable hyperhidrosis dermatologic 15770660
DMPK 160900 Hyperinsulinism hyperinsulinemia; proinsulin elevated; hyperproinsulinemia; insulin resistance metabolic 11549662 11874404 11888847 12832322
DMPK 160900 Hyperkalemia potassium levels elevated metabolic 8293615 11874404 11874420
DMPK 160900 Hyperlipidemia metabolic #11549662
DMPK 160900 Hyperpituitarism corticotropin levels abnormal; ACTH elevated; hypersecretion; pituitary dysfunction endocrinologic 7829609 12240714
DMPK 160900 Hyperreninemia renin levels elevated; hyperreninaemic hypoaldosteronism; Plasma renin activity (PRA) abnormal metabolic 11874420
DMPK 160900 Hypertriglyceridemia hypertriglyceridaemia metabolic 11549662
DMPK 160900 Hypoaldosteronism aldosteron levels decreased; hyperreninaemic hypoaldosteronism endocrinologic 11874404 11874420
DMPK 160900 Hypoandrogenism testosteron decreased; low or low normal testosterone levels; follicle stimulating hormone elevated; luteinizing hormone elevated endocrinologic 8742989 11549662 11874404 12601109 15770660
DMPK 160900 Hypocalcemia hypocalcemia; calcium metabolism impaired metabolic 9402536 11455309
DMPK 160900 Hypoglycemia severe hypoglycemia metabolic 11455309
DMPK 160900 Hypogonadism testicular atrophy; gonadal hypofunction; small testes; male hypogonadism; testicular failure; hypergonadotropic hypogonadism endocrinologic 1301924 7811171 7829609 8122879 8742989 10733240 11874404 12601109 12639730
DMPK 160900 Hypoparathyroidism pseudohypoparathyroidism endocrinologic 9402536
DMPK 160900 Hyporeflexia absent deep tendon reflexes; areflexia; hyporeflexic; hypoactive reflexes neurologic 9521960 10391974 10690232 11424841 11807903 11874420
DMPK 160900 Immune-system-diseases immunologic #9521960
DMPK 160900 Infections recurrent; acute otitis media immunologic 9521960
DMPK 160900 Infertility-male oligospermia; fertility reduced; sterility; impotence; sperm function abnormal; defective sperm capacitation; acrosome loss; impotent genitourinary 1301924 8742989 10655320 15770660
DMPK 160900 Inguinal-hernia gastrointestinal 10323316 11807903
DMPK 160900 Intestinal-obstruction intestinal pseudoobstruction; hypokinesia; megacolon; recurrent; constipation gastrointestinal 9445543 15770660
DMPK 160900 Intracranial-hemorrhages subarachnoid hemorrhage; intraventricular hemorrhage neurologic 14521021
DMPK 160900 Joint-diseases musculoskeletal #9856556 #10323316 #10690232 #11424841
DMPK 160900 Joint-limitations arthrogryposis; joint movements limited; foot; bilateral; elbow; knee; ligament laxity; contractures musculoskeletal 9856556 10323316 10690232 11424841
DMPK 160900 Lens-diseases ophthalmologic #1301924 #1346925 #7829609 #8122879 #8140064 #8421476 #9402536 #9576545 #9728948 #9856556 #9863600 #10391974 #10655320 #10733240 #10935840 #11874404 #12240714 #12601109 #12639730 #14726854 #15770660
DMPK 160900 Lung-diseases respiratory #9521960 #15326270
DMPK 160900 Macrocephaly musculoskeletal 9521960
DMPK 160900 Male-genital-diseases genitourinary #1301924 #8742989 #10655320 #15770660
DMPK 160900 Melanoma atypical nevi; compound nevi oncologic 9270517
DMPK 160900 Memory-disorders memory tasks impaired; lower scores in all long term memory tasks; long term memory impaired; verbal memory impaired; visual memory impaired neurologic 15596617
DMPK 160900 Mental-disorders psychiatric #9576545 #9728948 #9863600 #10367695 #10733240 #11140408 #12639730 #15596617
DMPK 160900 Mental-retardation congenital; detorioration; mild; severe; global; cognitive impairment neurologic 1301924 8421476 9402536 10323316 12601109 12639730 14726854 15596617 15770660
DMPK 160900 Metabolic-diseases metabolic #8293615 #9402536 #9521960 #10733240 #11455309 #11549662 #11874404 #11874420 #11888847 #12240714 #12601109 #12832322 #14726854 #15770660
DMPK 160900 Mitochondria-abnormal Ragged red fibers miscellaneous 10391974 12639730
DMPK 160900 Mood-disorders psychiatric #9576545 #9728948 #9863600 #10367695 #12639730
DMPK 160900 Muscle-aching-and-stiffness muscle pain; lower extremities; occasionally; cramping neurologic 1301924 7811171 9863600 15770660
DMPK 160900 Muscle-hypotonia congenital; marked hypotonia; generalized hypotonia neurologic 9521960 10323316 10690232 11407162 11424841 11455309 11807903 14521021 15770660
DMPK 160900 Muscle-weakness facial weakness; hands; neck; arms; limbs; bilateral weakness; proximal; distal; late stage diffuse; muscular strength decreased; diaphragmatic muscle weakness; intercostal muscle weakness neurologic 1301924 7811171 7829609 8122879 8421476 9270517 9402536 9521960 9576545 9728948 9856556 9863600 10323316 10391974 10655320 10935840 11424841 11874404 11874420 12240714 12601109 12639730 12832322 14726854 15326270 15596617 15770660
DMPK 160900 Muscular-atrophy muscle wasting; temporal; facial; neck; forearms; type 1 fiber predominance; fiber diameters abnormal; hypertophic fibers; ring fibers; muscular dystrophy; type 1 fiber atrophy neurologic 1346925 7811171 7829609 7853378 8140064 8293615 8421476 8742989 8891827 9270517 9576545 9728948 9863600 10323316 10367695 10391974 10733240 10935840 11284072 11549662 11874404 11874420 11888847 12190956 12240714 12601109 12639730 12832322 14726854 15326270
DMPK 160900 Muscular-diseases characteristic facies; myopathic face; tented mouth; carp mouth; muscular dystrophy; Biopsy findings; variation in fiber size; increased central nuclei; fibers with pyknotic nuclear clumps; necrotic fibrosis; nuclear clumps; fiber type distribution abnormal; muscle cell alteration musculoskeletal 8421476 8742989 9856556 10391974 12601109 14521021 14726854
DMPK 160900 Musculoskeletal-diseases musculoskeletal #8421476 #8742989 #9402536 #9521960 #9856556 #9863600 #10323316 #10391974 #10690232 #11407162 #11424841 #12601109 #14521021 #14726854 #15326270 #15770660
DMPK 160900 Myotonia myotonic dystrophy; absence in infancy; grip myotonia; percussion myotonia; contraction myotonia; muscle relaxation delayed; grasp myotonia neurologic 1346925 7811171 7829609 7853378 8122879 8140064 8293615 8421476 8742989 8891827 9270517 9402536 9445543 9576545 9728948 9856556 9863600 10367695 10385049 10655320 10690232 10733240 10935840 11140408 11284072 11407162 11424841 11549662 11874404 11874420 11888847 12190956 12240714 12601109 12639730 12832322 14726854 15326270 15596617 15770660 16190971
DMPK 160900 Neoplasms oncologic #8891827 #9270517 #11284072 #14726854
DMPK 160900 Nervous-system-diseases neurologic #1301924 #1346925 #7811171 #7829609 #7853378 #8122879 #8140064 #8293615 #8421476 #8742989 #8891827 #9270517 #9402536 #9445543 #9521960 #9576545 #9728948 #9856556 #9863600 #10323316 #10367695 #10385049 #10391974 #10655320 #10690232 #10733240 #10935840 #11140408 #11284072 #11407162 #11424841 #11455309 #11549662 #11807903 #11874404 #11874420 #11888847 #12190956 #12240714 #12601109 #12639730 #12832322 #14521021 #14726854 #15326270 #15596617 #15770660 #16190971
DMPK 160900 Neurobehavioral-manifestations neurologic #1301924 #8421476 #9402536 #9863600 #10323316 #11140408 #12601109 #12639730 #14726854 #15326270 #15596617 #15770660
DMPK 160900 Neuroectodermal-tumors oncologic #9270517
DMPK 160900 Neuroendocrine-tumors oncologic #9270517
DMPK 160900 Neurologic-manifestations neurologic #1301924 #1346925 #7811171 #7829609 #7853378 #8122879 #8140064 #8293615 #8421476 #8742989 #8891827 #9270517 #9402536 #9445543 #9521960 #9576545 #9728948 #9856556 #9863600 #10323316 #10367695 #10385049 #10391974 #10655320 #10690232 #10733240 #10935840 #11140408 #11284072 #11407162 #11424841 #11455309 #11549662 #11807903 #11874404 #11874420 #11888847 #12190956 #12240714 #12601109 #12639730 #12832322 #14521021 #14726854 #15326270 #15596617 #15770660 #16190971
DMPK 160900 Neuromuscular-manifestations neurologic #1301924 #1346925 #7811171 #7829609 #7853378 #8122879 #8140064 #8293615 #8421476 #8742989 #8891827 #9270517 #9402536 #9445543 #9521960 #9576545 #9728948 #9856556 #9863600 #10323316 #10367695 #10385049 #10391974 #10655320 #10690232 #10733240 #10935840 #11140408 #11284072 #11407162 #11424841 #11455309 #11549662 #11807903 #11874404 #11874420 #11888847 #12190956 #12240714 #12601109 #12639730 #12832322 #14521021 #14726854 #15326270 #15596617 #15770660 #16190971
DMPK 160900 Neuronal-loss-and-lesions MRI findings; brain calcifications; subcortical abnormalities; white matter abnormal; anterior temporal lobe abnormal; ventricular abnormalities neurologic 10323316 10385049 12639730
DMPK 160900 Ocular-motility-disorders ophthalmologic #5091121 #15326270
DMPK 160900 Ophthalmoplegia ophthalmoparesis; extraocular muscle atrophy; vertical gazes abnormal; horizontal gazes abnormal; lagophthalmos ophthalmologic 5091121 15326270
DMPK 160900 Parathyroid-diseases endocrinologic #9402536
DMPK 160900 Pilomatricomas multiple; hair follicle tumor; calcifying tumor; hair follicle origin; skin nodules; face; neck; extremities; calcified epithelioma; granulomatous infiltrations oncologic 8891827 9270517 11284072
DMPK 160900 Pituitary-diseases thyrotropin deficiency; TSH decreased; free thyroxine and triiodothyronine decreased endocrinologic #7829609 7853378 12240714
DMPK 160900 Pneumonia aspiration pneumonia; nosocomial pneumonia respiratory 9521960 15326270
DMPK 160900 Pregnancy-complications obstetric complications; abnormal uterine contraction; polyhydramnios; fetal movements reduced; pre term labor; fetal oedema; fetal hydrops; stillbirths; placenta previa; feet presentations; more cesarean sections genitourinary 8140064 9856556 9863600 10690232 11424841 11807903
DMPK 160900 Psychiatric-disorders psychiatric #9576545 #9728948 #9863600 #10367695 #10733240 #11140408 #12639730 #15596617
DMPK 160900 Psychomotor-agitation attention deficit; hyperactivity; ADHD; Attention deficit with hyperactivity disorder neurologic 11140408 12639730
DMPK 160900 RCCIII-deficiency muscle miscellaneous 12639730
DMPK 160900 Reflexes-abnormal neurologic #9521960 #10391974 #10690232 #11424841 #11807903 #11874420
DMPK 160900 Respiration-disorders respiratory #1301924 #9521960 #10323316 #10690232 #10733240 #11407162 #11424841 #11455309 #11807903 #15326270 #15770660
DMPK 160900 Respiratory-insufficiency respiratory distress; respiratory difficulties; apnea; dyspnea; hypercapnia; hypoventilation; respiratory disease; cyanotic respiratory 1301924 9521960 10323316 10690232 10733240 11407162 11424841 11455309 11807903 15326270 15770660
DMPK 160900 Respiratory-tract-diseases respiratory #1301924 #9521960 #10323316 #10690232 #10733240 #11407162 #11424841 #11455309 #11807903 #15326270 #15770660
DMPK 160900 Skin-diseases dermatologic #1301924 #7811171 #7829609 #8122879 #8421476 #9270517 #9576545 #9863600 #10655320 #11284072 #11874420 #12240714 #14726854 #15770660
DMPK 160900 Sleep-disorders sleep disturbances; excessive daytime sleepiness; hypersomnia; somnolence; daytime somnolence neurologic 9576545 10367695 10385049 10733240 15770660
DMPK 160900 Speech-disorders speech delay; indistinct speech; speech problems neurologic 8421476 9863600 #15326270 15770660
DMPK 160900 Sweat-gland-diseases dermatologic #15770660
DMPK 160900 Thyroid-diseases thyroid dysfunction; thyroid nodular disease; abnormal thyroid tissue endocrinologic 7853378
DMPK 160900 Urogenital-abnormalities genitourinary #11807903
DMPK 160900 Vision-disorders ophthalmologic #15326270
DMPK 160900 Vomiting nausea; regurgitation; gastroesophageal reflux gastrointestinal 9521960 12190956
DMPK 160900 Water-electrolyte-imbalance metabolic #8293615 #9402536 #9521960 #11455309 #11874404 #11874420

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