Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inflammatory bowel disease

The disposition to develop inflammatory bowel disease is hereditary. Various genes are responsible.

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Cherubism
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Cryopyrin-associated periodic syndrome
Familial mediterranean fever
Familiäres kälteinduziertes autoinflammatorisches Syndrom
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Crohn disease-associated growth failure
IL6
Inflammatory bowel disease 13
ABCB1
Inflammatory bowel disease 25
IL10RB
Inflammatory bowel disease 28
IL10RA
SEL1L
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Majeed syndrome
Mevalonate kinase-associated inflammatory diseases
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Rheumatoid arthritis progression
STING-associated vasculopathy with onset in infancy
Susceptibility to malignant hyperthermia 5
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome
Vasculitis due to ADA2 deficiency

References:

1.

Grant B et al. (1996) The Caenorhabditis elegans sel-1 gene, a negative regulator of lin-12 and glp-1, encodes a predicted extracellular protein.

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2.

Grant B et al. (1997) Structure, function, and expression of SEL-1, a negative regulator of LIN-12 and GLP-1 in C. elegans.

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3.

Biunno I et al. (1997) Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas.

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4.

Donoviel DB et al. (1999) SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11.

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5.

Harada Y et al. (1999) Complete cDNA sequence and genomic organization of a human pancreas-specific gene homologous to Caenorhabditis elegans sel-1.

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6.

Cattaneo M et al. (2004) Identification of a region within SEL1L protein required for tumour growth inhibition.

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7.

Odom DT et al. (2007) Tissue-specific transcriptional regulation has diverged significantly between human and mouse.

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8.

Kaneko M et al. (2007) A different pathway in the endoplasmic reticulum stress-induced expression of human HRD1 and SEL1 genes.

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9.

Mueller B et al. (2008) SEL1L nucleates a protein complex required for dislocation of misfolded glycoproteins.

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10.

Francisco AB et al. (2011) Haploid insufficiency of suppressor enhancer Lin12 1-like (SEL1L) protein predisposes mice to high fat diet-induced hyperglycemia.

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11.

Sun S et al. (2016) Epithelial Sel1L is required for the maintenance of intestinal homeostasis.

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12.

Orphanet article

Orphanet ID 238569 [^]
13.

Wikipedia article

Wikipedia EN (Inflammatory_bowel_disease) [^]
Update: May 7, 2019