MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: autoimmune disease of musculoskeletal system (MONDO:0000589)
Parent Node: autoimmune neuropathy (MONDO:0000774)
Parent Node: overlapping connective tissue disease (MONDO:0016663)
Parent Node: rheumatologic disorder (MONDO:0005554)
Parent Node: secondary glomerular disease (MONDO:0019724)
Parent Node: secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease (MONDO:0015928)
Parent Node: skeletal system disease (MONDO:0005172)
Parent Node: systemic inflammatory disease associated with an acquired peripheral neuropathy (MONDO:0016177)
..Starting node ..mixed connective tissue disease ()
Child Nodes:
Sister Nodes:
..CREST syndrome ()
..Cryoglobulinemic vasculitis ()
..eosinophilic granulomatosis with polyangiitis ()
..granulomatosis with polyangiitis ()
..microscopic polyangiitis ()
..mixed connective tissue disease ()
..polyarteritis nodosa ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5854
Name:	mixed connective tissue disease
Definition:	Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus , scleroderma , and polymyositis . Some affected people may also have symptoms of rheumatoid arthritis . Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) , corticosteroids and immunosuppresivedrugsmay help manage the symptoms.
Alternative IDs:
ParentIDs:
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Synonyms:	connective tissue disease overlap syndrome; MCTD; mixed collagen vascular disease; sharp syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: TTC7A;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal