Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandAutoimmune Diseases (D001327)
Parent Node:
expandConnective Tissue Diseases (D003240)
..Starting node
..expandLupus Erythematosus, Systemic (D008180)

       Child Nodes:
........expandLupus Nephritis (D008181)
........expandLupus Vasculitis, Central Nervous System (D020945)
........expandNeonatal Systemic lupus erythematosus (C536397)
........expandSYSTEMIC LUPUS ERYTHEMATOSUS WITH HEMOLYTIC ANEMIA, SUSCEPTIBILITY TO, 1 (OMIM:607279)
........expandSYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 1 (OMIM:607965)
........expandSYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 2 (OMIM:607966)
........expandSYSTEMIC LUPUS ERYTHEMATOSUS WITH NEPHRITIS, SUSCEPTIBILITY TO, 3 (OMIM:607967)



 Sister Nodes: 
..expandAlpha-2-Deficient Collagen Disease (C565963)
..expandAnetoderma (D057088) Child2
..expandBone Fragility with Contractures, Arterial Rupture, and Deafness (C567320)
..expandCartilage Diseases (D002357) Child22
..expandCellulitis (D002481) Child3
..expandCollagen Diseases (D003095) Child84
..expandCutis Laxa (D003483) Child17
..expandDermatomyositis (D003882) Child2
..expandDupuytren Contracture (D004387) Child2
..expandFascial Dystrophy, Congenital (C563219)
..expandHomocystinuria (D006712) Child5
..expandLipedema (D065134)
..expandLupus Erythematosus, Cutaneous (D008178) Child3
..expandLupus Erythematosus, Systemic (D008180) Child7
..expandMarden-Walker syndrome (C535910)
..expandMarfan Syndrome (D008382) Child9
..expandMixed Connective Tissue Disease (D008947)
..expandMucinoses (D017520) Child16
..expandNeoplasms, Connective Tissue (D009372) Child105
..expandNoonan Syndrome (D009634) Child12
..expandOsteopoikilosis (D010023) Child4
..expandPanniculitis (D015434) Child6
..expandPenile Induration (D010411)
..expandPseudoxanthoma Elasticum (D011561) Child2
..expandRheumatic Diseases (D012216) Child38
..expandScleroderma, Localized (D012594) Child5
..expandScleroderma, Systemic (D012595) Child7
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandStickler syndrome, type 1 (C537492)
..expandStickler syndrome, type 2 (C537493)
..expandStickler syndrome, type 3 (C537494)
..expandWeill-Marchesani Syndrome (D056846)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6571
Name:Lupus Erythematosus, Systemic
Definition:A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Alternative IDs:OMIM:152700|OMIM:300809|OMIM:601744|OMIM:605218|OMIM:605480|OMIM:608437|OMIM:609903|OMIM:609939|OMIM
ParentIDs:MESH:D001327|MESH:D003240
TreeNumbers:C17.300.480 |C20.111.590
Synonyms:Disease, Libman-Sacks |EXCESS LMW-DNA, INCLUDED |EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA, INCLUDED |Libman Sacks Disease |Libman-Sacks Disease |Lupus Erythematosus Disseminatus |SLE |SLEB1 |SLEB10 |SLEB11 |SLEB12 |SLEB13 |SLEB14 |SLEB15 |SLEB2 |SLEB3 |SLEB4 |SLEB5 |SLE
Slim Mappings:Connective tissue disease|Immune system disease
Reference: MedGen: D008180
MeSH: D008180
OMIM: 152700;

Genes: BANK1; CTLA4; DNASE1; FCGR2B; ITGAM; PDCD1; PTPN22; SLEB3; TLR5; TREX1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003493Antinuclear antibody positivity
3 HP:0003613Antiphospholipid antibody positivity
4 HP:0001369Arthritis
5 HP:0000992Cutaneous photosensitivity
6 HP:0001878Hemolytic anemia
7 HP:0001882Leukopenia
8 HP:0000123Nephritis
9 HP:0001701Pericarditis
10 HP:0002102Pleuritis
11 HP:0000709Psychosis
12 HP:0001250Seizure
13 HP:0002725Systemic lupus erythematosus
14 HP:0001873Thrombocytopenia
Disease Causing ClinVar Variants