Fibrosis
About the Disease
Fibrosis of Extraocular Muscles, Congenital, 1, also known as fibrosis of extraocular muscles, congenital, 3b, is related to moebius syndrome and fibrosis of extraocular muscles, congenital, 2, and has symptoms including cachexia, cyanosis and dyspnea. An important gene associated with Fibrosis of Extraocular Muscles, Congenital, 1 is KIF21A (Kinesin Family Member 21A), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Vesicle-mediated transport. The drugs Angiotensin II and Losartan have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and bone marrow, and related phenotypes are esotropia and exotropia
Common Targets / Biomarkers
Calpain (nonspecified subtype) | G6778 | G9170 | G7295 | P12327 | P5768 | G2064 | G5879 | G3586 | G80339 | G11173 | G367 | Lysophospholipid (edg) Receptors (nonspecified subtype) | G2065 | G3357 | G241 | G2864 | G10220 | G5920 | G1902 | G2162 | G5151 | G51393 | G9466 | G4217 | G2322 | G8841 | G135 | G1645 | G902 | G2147 | G5535 | G7046 | G4914 | G5739 | G3240 | G653499 | G1020 | G56848 | G3480 | G1520 | G1723 | G1859 | G136 | CDK5/p25 | Serum/glucocorticoid regulated kinase (Sgk) (nonspecified subtype) | Hedgehog Protein (nonspecified subtype) | G1803 | G8536 | G6046 | Rho GTPase (nonspecified subtype) | G5979 | G239 | G282617 | G7097 | G5533 | G3163 | Ribosomal Protein S6 Kinase, 90kDa (nonspecified subtype) | G6319 | G5727 | P6058 | G4321 | G10087 | G3605 | G2932 | Tyrosine Kinase (nonspecified subtype) | G2022 | G2159 | G4968 | G102724428 | G1/S-specific cyclin-E (nonspecified subtype) | G6722 | G887 | Chymotrypsin (nonspecified subtype) | G836 | G5467 | G5479 | G5481 | G3356 | CDK9/Cyclin T1 | G5244 | G84649 | G5352 | G1025 | Protein Tyrosine Phosphatase (PTP) (nonspecified subtype) | G8321 | G116085 | G6446 | G25927 | G1490 | G1514 | alpha-Adrenoceptor (nonspecified subtype) | G4313 | G5137 | G9616 | G4015 | G6472 | G5054 | G83468 | G8856 | G3181 | ADP-Ribosyl Cyclase/cyclic ADP-Ribose Hydrolase (ADPRC) (nonspecified subtype) | G4193 | G952 | G3643 | G3783 | G4724 | G50507 | G23043 | G4985 | G8654 | G1118 | Integrin alpha-8/beta-1 receptor | G5156 | G3248 | Guanylate cyclase (nonspecified subtype) | P6348 | G9971 | Transforming growth factor (nonspecified subtype) | G3717 | G7514 | G1457 | G3795 | G9020 | G9294 | Peroxisome Proliferator-Activated Receptors (PPAR) (nonspecified subtype) | G5610 | G7052 | G3815 | G80310 | G5169 | G374 | G51135 | G406990 | G415116 | G54106 | G2865 | G5894 | G7010 | G3689 | G140 | G2658 | G673 | G2033 | Platelet-Derived Growth Factor Receptor (nonspecified subtype) | G649 | G7517 | G904 | G6772 | G8989 | G185 | G406991 | G3458 | G575 | G3702 | G2264 | P5833 | G53345 | G5340 | G2696 | G5521 | G92 | G5734 | P12578 | P5756 | G3963 | G10110 | G3558 | G3716 | G3718 | G9064 | P11113 | Myosin Class II (nonspecified subtype) | G1511 | G208 | G472 | G9261 | P5762 | G7428 | G114548 | CDK8/Cyclin C | G4311 | G1278 | G158747 | G57097 | G80351 | 15-Lipoxygenase (nonspecified subtype) | G7099 | G7225 | G896 | CDK2/Cyclin E1 | G59350 | P16740 | Neurotrophic Tyrosine Kinase Receptor (TRK) (nonspecified subtype) | G780 | G5396 | G10461 | G6775 | G51185 | G5170 | Histone deacetylase (nonspecified subtype) | G9448 | Amyloid beta A4 precursor protein-binding family (APP-BP) (nonspecified subtype) | P13024 | G3965 | G50508 | G23576 | G85480 | G2867 | G1499 | G9475 | G29780 | Trypsin (nonspecified subtype) | G1234 | G3589 | Vascular endothelial growth factor receptor (VEGFR) (nonspecified subtype) | G5025 | G1018 | Heme Oxygenase (HO) (nonspecified subtype) | G4153 | G4620 | G22801 | G5033 | G9021 | G2066 | G7177 | G3567 | G4016 | G10595 | G2833 | G196 | G7040 | G898 | G57154 | G823 | G27159 | G3576 | G3831 | G2171 | G54814 | CDK1/Cyclin B | CDK4/Cyclin D | G64754 | G5781 | G401 | G1387 | G65018 | Transforming growth factor beta (nonspecified subtype) | G1786 | G25797 | G3565 | G5297 | G6996 | G53831 | G5292 | G23235 | G3549 | G4000 | G79143 | G378938 | G7153 | G7076 | G3590 | G4052 | P24924 | G1009 | G93 | Ectonucleotide pyrophosphatase/phosphodiesterase (E-NPP) (nonspecified subtype) | G3358 | G3362 | CDK2/Cyclin A | Prokineticin Receptor (PK-R) (nonspecified subtype) | G57007 | G1000 | G325 | G7166 | G91 | G5128 | G10038 | G351 | G10803 | Cyclin D (nonspecified subtype) | G9891 | G5768 | G4017 | G8019 | G5532 | G2638 | P5757 | G6513 | G2740 | G5534 | G355 | G5140 | G5167 | G147798 | Cyclooxygenase (COX) (nonspecified subtype) | G186 | G7515 | G26 | G961 | G3596 | G3939 | G4160 | G340061 | G4129 | G7345 | G6774 | G2263 | G5159 | G3556 | G4088 | G28996 | G3082 | P33717 | G8877 | G3690 | G7301 | NADPH Oxidase (nonspecified subtype) | G467 | G10919 | G4907 | G3146 | G1436 | G1513 | G7289 | G5328 | P5859 | G1636 | G6347 | G150094 | G7092 | G871 | G3818 | G665 | G2475 | CDK6/Cyclin D3 | G6688 | G2081 | G29126 | G79602 | G5021 | G10406 | G165140 | G7293 | G51752 | G3488 | G4224 | G4881 | G9076 | P10999 | G1585 | G10855 | G3162 | G1901 | G2149 | G51284 | G84749 | G101180976 | G2904 | G55361 | G983 | Cyclin A (nonspecified subtype) | G83990 | G1508 | Rho kinase (ROCK) (nonspecified subtype) | G10013 | G3091 | G10988 | G1606 | G5141 | G7048 | G9584 | G1956 | G9123 | G131578 | G695 | G84171 | G9100 | Arginase (nonspecified subtype) | CDK2/Cyclin E | G4225 | Focal Adhesion Kinases (FAK) (nonspecified subtype) | G4780 | G595 | G1269 | Mitogen-activated protein kinase p38 (MAPK p38) (nonspecified subtype) | G1991 | G3977 | G55605 | G55294 | G7093 | G9180 | G6647 | P5754 | G4353 | G5290 | G5468 | G1022 | Sphingolipid delta(4)-desaturase (nonspecified subtype) | G2247 | G8239 | CDK7/Cyclin H | G84695 | G290 | G10753 | G4048 | G2058 | G3620 | G64840 | G387 | G1909 | G468 | G7043 | G2615 | G2167 | G4986 | Superoxide dismutase (SOD) (nonspecified subtype) | Phosphodiesterase (nonspecified subtype) | G56729 | G8639 | alpha-Amylase (nonspecified subtype) | G1215 | P29419 | G7124 | G5465 | Calcium/calmodulin-dependent protein kinase type II (CaMK-II) | G3956 | G4157 | G1019 | G246 | G1017 | G29110 | G64359 | G7067 | G6097 | G8560 | G123099 | G5136 | G2261 | G5737 | Collagen (nonspecified subtype) | Segment polarity protein dishevelled homolog (nonspecified subtype) | G4644 | G91039 | P16165 | G5743 | G1268 | P16683 | G5478 | G57591 | G7297 | G142 | Heat shock protein 90 (nonspecified subtype) | G1317 | DNA Methyltransferase (DNMT) (nonspecified subtype) | G5168 | P5767 | P6884 | G431705 | Ribosomal Protein S6 Kinase, 70kDa (p70S6K) (nonspecified subtype) | G3569 | G6401 | G23387 | G5139 | G1196 | CDK3/Cyclin E | G151306 | G4306 | G7150 | G10413 | G9313 | Protein kinase C (nonspecified subtype) | G3684 | G6515 | G5293 | G6470 | G6608 | G2735 | G43 | G2191 | G3055 | G4161 | G7222 | G2621 | P5755 | G3791 | G824 | G3065 | G55323 | Interleukin 17 (nonspecified subtype) | G4233 | G23476 | G676 | Transforming growth factor (TGF)-beta receptor (nonspecified subtype) | CDK4/Cyclin D1 | G2053 | G81788 | G4921 | G338557 | G1788 | G2260 | G11040 | G6195 | G432 | G10039 | G2321 | G2335 | G8658 | G10381 | Cyclin B (nonspecified subtype) | G22933 | G7421 | G105372717 | G4883 | Prostanoid Receptor (nonspecified subtype) | G2150 | G7852 | G23097 | G57121 | G3553 | G389136 | G7068 | Asialoglycoprotein Receptor (ASGPR) (nonspecified subtype) | G183 | Folate Receptor (nonspecified subtype) | G4318 | G6093 | G1277 | G3958 | G3491 | P16092 | G197259 | G8851 | G5155 | G59272 | G9817 | G3845 | G5291
Other Diseases
Filariasis | Focal Cortical Dysplasia Type 2 | Focal Dermal Hypoplasia | Focal Facial Dermal Dysplasia | Focal Segmental Glomerulosclerosis | Follicular Dendritic Cell Sarcoma | Fontaine Progeroid Syndrome | Fowler's Syndrome | Frank-ter Haar Syndrome | Frontometaphyseal Dysplasia | Frontotemporal Dementia | Frontotemporal Dementia With Amyotrophic Lateral Sclerosis | Fuchs Dystrophy | Fuchs Heterochromic Iridocyclitis | Fucosidosis | Fukuyama Congenital Muscular Dystrophy | Fundus Albipunctatus | Galactosemia | Galactosialidosis | Galloway-Mowat Syndrome | Gallstones | Ganglioglioma | Ganglioneuroma | Gangliosidosis | Gangliosidosis, GM1 | GAPO Syndrome | Gardner Syndrome | Gastric Atrophy | Gastritis | Gastritis, Atrophic | Gastroenteritis | Gastroenteritis, Eosinophilic | Gastrointestinal Disorders | Gastroschisis | GATA2 Deficiency | Gaucher Disease | Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 2 | Genee-Wiedemann Syndrome | Generalized Epilepsy And Paroxysmal Dyskinesia | Generalized Epilepsy With Febrile Seizures Plus | Genitopatellar Syndrome | Gerodermia Osteodysplastica | Gerstmann-Straussler-Scheinker Syndrome | Gestational Trophoblastic Disease | Ghosal Syndrome | Giant Axonal Neuropathy | Giant Cell Arteritis | Giant Cell Glioblastoma | Gigantism | Gilbert Syndrome | Gingivitis | Gitelman Syndrome | Glanzmann Thrombasthenia | Glaucoma | Glaucoma, Congenital | Glaucomatocyclitic Crisis | Glioblastoma | Glioblastoma Multiforme | Glioma | Gliosarcoma | Globozoospermia | Glomerulonephritis | Glomerulonephritis, Membranoproliferative | Glomerulonephritis, Membranous | Glucagonoma | GLUT1 Deficiency Syndrome | Glutaric Aciduria Type 1 | Glutaric Aciduria Type 2 | Glutaric Aciduria Type 3 | Glutathione Synthetase Deficiency | Glycogen Storage Disease | Glycogen Storage Disease Type 0 | Glycogen Storage Disease Type 0, Muscle | Glycogen Storage Disease Type 1 | Glycogen Storage Disease Type 1a | Glycogen Storage Disease Type 1b | Glycogen Storage Disease Type 3 | Glycogen Storage Disease Type 4 | Glycogen Storage Disease Type 5 | Glycogen Storage Disease Type 6 | Glycogen Storage Disease Type 9 | GM2-gangliosidosis AB Variant | Gnathodiaphyseal Dysplasia | GNE Myopathy | Goiter | Goldenhar Syndrome | Gout | Graft-versus-host Disease | Granular Corneal Dystrophy | Granular Corneal Dystrophy Type 1 | Granuloma Annulare | Graves Disease | Gray Platelet Syndrome | Greenberg Dysplasia | Greig Cephalopolysyndactyly Syndrome | Growth Hormone Excess | Guanidinoacetate Methyltransferase Deficiency | Guillain-Barre Syndrome | Guttate Psoriasis | Gynecomastia | Gyrate Atrophy Of The Choroid And Retina | H Syndrome | Haim-Munk Syndrome | Hairy Cell Leukemia | Hamartoma | HANAC Syndrome | Hartnup Disease | Hartsfield Syndrome | Hashimoto Thyroiditis | Headache | Heart Block | Heart Failure | Heart Septal Defects | Heavy Chain Disease | Heimler Syndrome | HELLP Syndrome | Hemangioblastoma | Hemangioendothelioma | Hemangioma | Hemimegalencephaly | Hemochromatosis | Hemochromatosis Type 1 | Hemochromatosis Type 2 | Hemoglobinopathies | Hemolytic Anemia | Hemolytic Uremic Syndrome | Hemolytic Uremic Syndrome, Atypical | Hemophagocytic Lymphohistiocytosis | Hemophilia | Hemorrhage | Hemorrhagic Disorders | Hemorrhoids | Hemosiderosis | Hennekam Lymphangiectasia-lymphedema Syndrome | Hepatic Adenomatosis | Hepatic Steatosis | Hepatic Veno-occlusive Disease | Hepatitis | Hepatitis A | Hepatitis B, Chronic | Hepatitis C, Chronic | Hepatitis D | Hepatitis E | Hepatitis, Alcoholic | Hepatitis, Autoimmune | Hepatitis, Chronic | Hepatoblastoma | Hepatopulmonary Syndrome | Hepatorenal Syndrome | Hereditary Coproporphyria | Hereditary Elliptocytosis | Hereditary Folate Malabsorption | Hereditary Hemorrhagic Telangiectasia | Hereditary Hemorrhagic Telangiectasia Type 2 | Hereditary Mixed Polyposis Syndrome | Hereditary Multiple Exostoses | Hereditary Neuropathy With Liability To Pressure Palsies | Hereditary Pyropoikilocytosis | Hereditary Sensory And Autonomic Neuropathy | Hereditary Sensory Neuropathy Type 1 | Hereditary Spastic Paraplegia | Hereditary Spherocytosis | Hereditary Xerocytosis | Hermansky-Pudlak Syndrome | Hernia, Inguinal | Herpes Genitalis | Herpes Simplex Dermatitis | Heterotopic Ossification | HIBCH Deficiency | Hidradenitis | Hidradenitis Suppurativa | High Molecular Weight Kininogen Deficiency | Histiocytic Sarcoma | Histiocytosis | Hodgkin Lymphoma | Holoprosencephaly | Holt-Oram Syndrome | Homocystinuria | Hoyeraal-Hreidarsson Syndrome | Huntington's Disease | Huntington's Disease-like 2 | HUPRA Syndrome | Hydrocephalus | Hydrocephalus, Normal Pressure | Hydrolethalus Syndrome | Hydronephrosis | Hydrops Fetalis | Hyper IgE Syndrome | Hyperacusis | Hyperammonemia | Hyperandrogenemia | Hyperbilirubinemia, Neonatal | Hypercalcemia | Hypercalciuria | Hypercholesterolemia | Hypercholesterolemia, Familial | Hyperekplexia | Hypereosinophilic Syndrome | Hyperferritinemia-cataract Syndrome | Hyperglycemia | Hyperhomocysteinemia | Hyperinsulinemia | Hyperinsulinemic Hypoglycemia | Hyperinsulinism-hyperammonemia Syndrome | Hyperkeratosis | Hyperlipidemia | Hyperlipidemia Type V | Hyperlipidemia, Familial Combined | Hypermethioninemia | Hypermetropia | Hyperostosis | Hyperoxaluria | Hyperparathyroidism | Hyperparathyroidism, Primary | Hyperparathyroidism, Secondary | Hyperparathyroidism-jaw Tumor Syndrome | Hyperphenylalaninemia | Hyperphosphatasia With Intellectual Disability Syndrome 4 | Hyperprolactinemia | Hypersensitivity | Hypersensitivity Pneumonitis | Hypersomnia | Hypertelorism | Hypertension | Hypertension, Essential | Hypertension, Portal | Hypertension, Pulmonary | Hypertension, Renal | Hypertension, Renovascular | Hypertensive Nephropathy | Hypertensive Retinopathy | Hyperthermia, Malignant | Hyperthyroidism | Hypertriglyceridemia | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 1 | Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive 2 | Hypertrophy | Hyperuricemia | Hyperuricemic Nephropathy, Familial Juvenile | Hypervalinemia | Hypoalbuminemia | Hypobetalipoproteinemias | Hypocalcemia | Hypodontia | Hypoglycemia | Hypogonadism | Hypohidrotic Ectodermal Dysplasia | Hypohidrotic Ectodermal Dysplasia, X-linked | Hypokalemia | Hypokalemic Periodic Paralysis | Hypolipoproteinemia | Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum | Hypoparathyroidism | Hypophosphatemic Rickets, Autosomal Recessive, 1 | Hypopigmentation | Hypopituitarism | Hypoplastic Left Heart Syndrome | Hypoproteinemia, Hypercatabolic | Hypospadias | Hypotension, Orthostatic | Hypothyroidism | Hypotonia-cystinuria Syndrome | Hypotrichosis | Hypotrichosis Simplex | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | ICF Syndrome | Ichthyosis | Ichthyosis Bullosa Of Siemens | Ichthyosis Hystrix, Curth-Macklin Type | Ichthyosis, X-linked | Idiopathic Multicentric Castleman Disease | Idiopathic Pulmonary Fibrosis | IgA Deficiency | IgA Nephropathy | Ileitis | IMAGe Syndrome | Imerslund-Grasbeck Syndrome | Immunoproliferative Disorders | Impetigo | Impulse Control Disorder | Inborn Errors Of Metabolism | Incontinentia Pigmenti | Infantile Liver Failure Syndrome 1 | Infantile Nephropathic Cystinosis | Infantile Neuroaxonal Dystrophy | Infantile Refsum Disease | Infantile Spasm | Infectious Diarrhea | Infertility | Infertility, Male | Inflammatory Bowel Disease | Inflammatory Joint Disease | Inflammatory Linear Verrucous Epidermal Nevus | Inflammatory Myofibroblastic Tumor | Inflammatory Myopathy | Influenza | Insulin Resistance | Insulinoma | Intellectual Disability, Autosomal Dominant 5 | Intermittent Claudication | Intermittent Explosive Disorder | Interstitial Lung Diseases | Intestinal Hypomagnesemia 1 | Intestinal Obstruction | Intestinal Pseudo-obstruction | Intestinal Tuberculosis | Intracerebral Hemorrhage | Intracranial Hypertension | Iron Deficiency Anemia | Iron Metabolism Disorders | Iron Overload | Irritable Bowel Syndrome | Ischemia | Isobutyryl-CoA Dehydrogenase Deficiency | Isovaleric Acidemia | Jacobsen Syndrome | Jalili Syndrome | Japanese Encephalitis | Jaundice, Obstructive | Jawad Syndrome | Johanson-Blizzard Syndrome | Joubert Syndrome | Joubert Syndrome 2 | Juvenile Hyaline Fibromatosis | Juvenile Myelomonocytic Leukemia | Juvenile Myoclonic Epilepsy | Juvenile Polyposis | Juvenile Xanthogranuloma | Kabuki Syndrome | Kabuki Syndrome 2 | Kallmann Syndrome | Kaposi Sarcoma | Kaposiform Hemangioendothelioma | Kashin-Beck Disease | Kawasaki Disease | KBG Syndrome | Kearns-Sayre Syndrome | Keloid | Keratitis | Keratitis-ichthyosis-deafness Syndrome | Keratoacanthoma | Keratoconjunctivitis | Keratoconus | Keratocystic Odontogenic Tumor | Keratopathy | Keratosis | Keratosis, Actinic | Keratosis, Seborrheic | Kernicterus | Kidney Stones | Kindler Syndrome | Kleine-Levin Syndrome | Klinefelter Syndrome | Klippel-Feil Syndrome | Knobloch Syndrome | Kohlschutter-Tonz Syndrome | Krabbe Disease | L-2-Hydroxyglutaric Aciduria | Lactose Intolerance | Lafora Disease | Lamellar Ichthyosis | Language Disorders | Large Granular Lymphocytic Leukemia | Larsen Syndrome | Lassa Fever | Lateral Meningocele Syndrome | Lathosterolosis | Lattice Corneal Dystrophy | Lattice Corneal Dystrophy Type 1 | Learning Disability | Leber Congenital Amaurosis | Leber Hereditary Optic Neuropathy | Left Ventricular Noncompaction | Leiomyoma | Leiomyosarcoma | Leishmaniasis, Cutaneous | Leishmaniasis, Visceral | Lennox-Gastaut Syndrome | Lentigo | LEOPARD Syndrome | Leprosy | Leri Pleonosteosis | Leri-Weill Dyschondrosteosis | Lesch-Nyhan Syndrome | Leukemia | Leukemia-lymphoma, Adult T-cell | Leukocyte Adhesion Deficiency | Leukocyte Adhesion Deficiency Type 1 | Leukodystrophies | Leukoencephalopathy, Progressive Multifocal | Leukoplakia | Leukoplakia, Oral | Lewy Body Dementia | Li-Fraumeni Syndrome | Lichen Planus | Lichen Sclerosus | Liddle Syndrome | Liebenberg Syndrome | Light Chain Amyloidosis | Ligneous Conjunctivitis
