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Items: 11

1.

Vitiligo

Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. [from NCI]

MedGen UID:
22677
Concept ID:
C0042900
Disease or Syndrome
2.

Multiple sclerosis

A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. [from NCI]

MedGen UID:
10123
Concept ID:
C0026769
Disease or Syndrome
3.

Asthma

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. [from HPO]

MedGen UID:
2109
Concept ID:
C0004096
Disease or Syndrome
4.

Inflammatory disease

An infectious or non infectious disorder characterized by signs and symptoms derived from focal or extensive tissue infiltration by acute (e.g., polymorphonuclear) or chronic (e.g., lymphocytic-plasmacytic) inflammatory cells. Representative examples of infectious disorders include viral infections, bacterial infections, and parasitic infections. Representative examples of non-infectious inflammatory disorders include inflammatory bowel disease and inflammatory polyps. [from NCI]

MedGen UID:
452939
Concept ID:
C1290884
Disease or Syndrome
5.

Vitiligo-associated multiple autoimmune disease susceptibility 1

Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases. It is a genetically complex disorder involving multiple susceptibility genes and unknown environmental triggers. Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, suggesting that these diseases involve shared genetic components (summary by Jin et al., 2010). Genetic Heterogeneity of Vitiligo-Associated Multiple Autoimmune Disease Susceptibility Additional forms of vitiligo-associated multiple autoimmune disease susceptibility have been mapped to chromosomes 1p31 (VAMAS2, 607836, associated with mutation in the FOXD3 gene, 611539), 7 (VAMAS3; 608391), 8 (VAMAS4; 608392), 4 (VAMAS5; 609400), and 6p21.3 (VAMAS6; 193200). [from OMIM]

MedGen UID:
335788
Concept ID:
C1847835
Finding
6.

Diabetes mellitus type 1

Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [from OMIM]

MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
7.

Crohn disease

A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. [from HPO]

MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
8.

Celiac disease

Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. [from GeneReviews]

MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
9.

Autoimmunity

The occurrence of an immune reaction against the organism's own cells or tissues. [from HPO]

MedGen UID:
2136
Concept ID:
C0004368
Pathologic Function
10.

Celiac disease, susceptibility to

MedGen UID:
943081
Concept ID:
CN260045
Disease or Syndrome
11.

Celiac disease, susceptibility to, 1

Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, malabsorption, abdominal pain and distension, bloating, vomiting, and weight loss) and/or highly variable non-gastrointestinal findings (dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, iron deficiency anemia, migraines, depression, attention-deficit disorder, epilepsy, osteoporosis/osteopenia, infertility and/or recurrent fetal loss, vitamin deficiencies, short stature, failure to thrive, delayed puberty, dental enamel defects, and autoimmune disorders). Classic celiac disease, characterized by mild to severe gastrointestinal symptoms, is less common than non-classic celiac disease, characterized by absence of gastrointestinal symptoms. [from GeneReviews]

MedGen UID:
395227
Concept ID:
C1859310
Finding
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