Celiac disease, susceptibility to, 1

Preferred Label : Celiac disease, susceptibility to, 1;

Symbol : CELIAC1;

CISMeF acronym : CELIAC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gluten-sensitive enteropathy, susceptibility to, 1; Celiac sprue, susceptibility to, 1;

Description : Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005). For a discussion of genetic heterogeneity of celiac disease, see;

Inheritance : Autosomal recessive; Multifactorial;

Neoplasia : Intestinal T-cell lymphoma; Small bowel cancer; Pharyngeal cancer; Esophageal cancer;

Laboratory abnormalities : Vitamin B12 deficiency (uncommon); Anti-tissue transglutaminase antibodies (anti-tTG); Vitamin D deficiency; IigA and IgG antigliadin antibodies (AGA); Iron deficiency; Folate deficiency; Hypocalcemia; IgA antiendomysial antibodies (EMA); Vitamin K deficiency; Prolonged prothrombin time; Elevated liver transaminases;

Prefixed ID : #212750;

Details

Origin ID

212750;

UMLS CUI

C1859310;

Automatic exact mappings (from CISMeF team)
- Cadmium [NCIt concept]
- Candela [NCIt concept]
- Clinical diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Cluster of Differentiation [NCIt concept]
- Congo, the Democratic Republic of the [NCIt concept]
- HLA-DQA1 wt Allele [NCIt concept]
- HLA-DQB1 wt Allele [NCIt concept]
- Lunch [NCIt concept]
- NOD2 wt Allele [NCIt concept]
- candela (qualifier value) [SNOMED CT concept]
- celiac disease [Artificial nutrition thesaurus concept]
- major histocompatibility complex, class II, DQ alpha 1 [ORDO Gene]
- major histocompatibility complex, class II, DQ alpha 1 [HGNC gene]
- major histocompatibility complex, class II, DQ beta 1 [ORDO Gene]
- major histocompatibility complex, class II, DQ beta 1 [HGNC gene]
False automatic mappings
- Chad [NCIt concept]
- Cisplatin/Cyclophosphamide Regimen [NCIt concept]
Genes related to phenotype
- Major histocompatibility complex, class II, dq alpha-1 [OMIM gene]
- Major histocompatibility complex, class II, dq beta-1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abdominal pain [HPO term]
- Abnormality of the abdominal wall [HPO term]
- Abnormality of the coagulation cascade [HPO term]
- Alopecia [HPO term]
- Anxiety [HPO term]
- Arthralgia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Celiac disease [HPO term]
- Cerebral calcification [HPO term]
- Decreased circulating IgA level [HPO term]
- Delayed puberty [HPO term]
- Depression [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Elevated hepatic transaminase [HPO term]
- Enamel hypoplasia [HPO term]
- Failure to thrive [HPO term]
- Growth retardation as children [HPO term]
- Heterogeneous [HPO term]
- Hypocalcemia [HPO term]
- Infertility [HPO term]
- Iron deficiency anemia [HPO term]
- Low levels of vitamin D [HPO term]
- Low levels of vitamin K [HPO term]
- Lymphoma [HPO term]
- Macrocytic anemia [HPO term]
- Multifactorial inheritance [HPO term]
- Osteoporosis [HPO term]
- Polyneuropathy [HPO term]
- Postnatal growth retardation [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Reduced blood folate concentration [HPO term]
- Rickets [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Steatorrhea [HPO term]
- Stomatitis [HPO term]
- Thrombocytosis [HPO term]
- Thyroiditis [HPO term]
- Type I diabetes mellitus [HPO term]
- Vitamin B12 deficiency [HPO term]
- Vomiting [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Celiac disease [ORDO Disease]
See also inter- (CISMeF)
- Celiac Disease [NCIt concept]
- Celiac disease [ICD-10 Sub-category]
- Celiac disease [HPO term]
- Celiac disease [ORDO Disease]
- Celiac disease [MedDRA LLT]
- Celiac disease [ICD-9 code]
- Celiac disease (disorder) [SNOMED CT concept]
- Celiac sprue [MedDRA LLT]
- Coeliac disease [PASCAL descriptor]
- Coeliac disease [ICD-11 Category]
- Coeliac disease [ICD-10 Sub-category (who)]
- Coeliac disease [MedDRA Preferred Term]
- Coeliac sprue [MedDRA LLT]
- Gluten enteropathy [MedDRA LLT]
- Gluten sensitive enteropathy [MedDRA LLT]
- celiac disease [DO Concept]
- celiac disease [MedlinePlus Topic]
- celiac disease [MeSH Descriptor]
- celiac disease [MeSH concept]
- celiac disease [Radlex concept]
- celiac disease [SNOMED Notion]
- celiac disorder [Disease (Nov.)]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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