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 ear, nose and throat (MONDO:0000587)
Parent Node: IgG4-related ophthalmic disease (MONDO:0018675)
Parent Node: lacrimal apparatus disease (MONDO:0001854)
..Starting node ..IgG4-related dacryoadenitis and sialadenitis ()
Child Nodes:
Sister Nodes:
..acute inflammation of lacrimal passage ()
..anomaly of the secretory and excretory apparatus of the lacrimal system ()
..chronic inflammation of lacrimal passage ()
..disorder of lacrimal gland ()
..dry eye syndrome ()
..eversion of lacrimal punctum ()
..excessive tearing ()
..excretory apparatus of the lacrimal system anomaly ()
..IgG4-related dacryoadenitis and sialadenitis ()
..lacrimal passage granuloma ()
..lacrimal system cancer ()
..nasolacrimal duct disease ()
..primary lacrimal atrophy ()
..secretory apparatus of the lacrimal system anomaly ()
..stenosis of lacrimal passage ()
..stenosis of lacrimal punctum ()
..stenosis of lacrimal sac ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19191
Name:	IgG4-related dacryoadenitis and sialadenitis
Definition:	IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease (see this term) characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis (see these terms).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	chronic dacryoadenitis and sialadenitis; Mikulicz disease; Mikulicz disease (former); Mikulicz syndrome (former); Mikulicz's disease; Mikulicz's disease (former)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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