SPRUE
MCID: CLC063
MIFTS: 74

Celiac Disease 1 (SPRUE)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Celiac Disease 1

MalaCards integrated aliases for Celiac Disease 1:

Name: Celiac Disease 1 57 38
Celiac Disease 57 38 12 24 53 25 37 29 55 43 44 15 73
Celiac Sprue 12 76 24 53 25
Coeliac Disease 12 76 53 15
Celiac Disease, Susceptibility to 57 13
Gluten-Sensitive Enteropathy 24 53
Nontropical Sprue 24 53
Sprue 25 73
Gluten-Sensitive Enteropathy, Susceptibility to, 1 57
Celiac Disease, Susceptibility to, Type 1 40
Celiac Disease, Susceptibility to, 1 57
Celiac Sprue, Susceptibility to, 1 57
Gluten-Sensitive Enteropathy 1 57
Gluten-Induced Enteropathy 53
Childhood Celiac Disease 73
Idiopathic Steatorrhea 12
Gluten Intolerance 53
Gluten Enteropathy 25
Celiac Sprue 1 57
Celiac1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive
multifactorial

Miscellaneous:
genetic heterogeneity
precipitating factors - ingestion of wheat gluten, rye, and/or barley
presentation in infants - impaired growth, diarrhea, abdominal distention, vomiting
presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia
presentation in adults - episodic or nocturnal diarrhea, flatulence, weight loss, iron deficiency anemia, macrocytic anemia, coagulopathy, vitamin d deficiency



GeneReviews:

24
Penetrance The penetrance of celiac disease is low. of individuals with a celiac-associated hla allele genotype, approximately 3% develop celiac disease. see testing strategies, in a symptomatic individual who is on a gluten-free diet, molecular genetic testing and table 3. see genetic counseling for details regarding risk to family members...

Classifications:



Summaries for Celiac Disease 1

NIH Rare Diseases : 53 Celiac disease is an autoimmune disorder that damages the small intestine and inhibits absorption of nutrients. People with celiac disease cannot tolerate gluten, a protein in wheat, rye, barley, and in some products such as medicines, vitamins, and lip balms. When affected people eat food with gluten, or use a product with gluten, the immune system reacts by damaging tiny parts of the lining of the small intestine called villi. Because villi normally allow the blood to absorb nutrients from food, affected individuals become malnourished. Classic signs and symptoms are caused by inflammation of the gastrointestinal tract and may include diarrhea, weight loss, abdominal pain, swelling, and food intolerance. However, many people have other symptoms involving many body systems, and some people have no symptoms. While celiac disease tends to run in families, it does not follow a specific inheritance pattern. The risk to develop celiac disease is raised by having certain forms of the HLA-DQA1 and HLA-DQB1 genes. Treatment is a lifelong, gluten-free diet.

MalaCards based summary : Celiac Disease 1, also known as celiac disease, is related to refractory celiac disease and dermatitis herpetiformis, and has symptoms including constipation, abdominal pain and diarrhea. An important gene associated with Celiac Disease 1 is HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. Affiliated tissues include small intestine, testes and t cells, and related phenotypes are depressivity and seizures

Disease Ontology : 12 An autoimmune disease of gastrointestinal tract that is caused by a reaction located in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has symptom abdominal pain, has symptom constipation, has symptom diarrhea, has symptom nausea and vomiting, and has symptom loss of appetite.

Genetics Home Reference : 25 Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body.

OMIM : 57 Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), 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 MAPPING. (212750)

MedlinePlus : 43 Celiac disease is an immune disease in which people can't eat gluten because it will damage their small intestine. If you have celiac disease and eat foods with gluten, your immune system responds by damaging the small intestine. Gluten is a protein found in wheat, rye, and barley. It may also be in other products like vitamins and supplements, hair and skin products, toothpastes, and lip balm. Celiac disease affects each person differently. Symptoms may occur in the digestive system, or in other parts of the body. One person might have diarrhea and abdominal pain, while another person may be irritable or depressed. Irritability is one of the most common symptoms in children. Some people have no symptoms. Celiac disease is genetic. Blood tests can help your doctor diagnose the disease. Your doctor may also need to examine a small piece of tissue from your small intestine. Treatment is a diet free of gluten. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Wikipedia : 76 Coeliac disease, also spelled celiac disease, is a long-term autoimmune disorder that primarily affects... more...

GeneReviews: NBK1727

Related Diseases for Celiac Disease 1

Diseases in the Celiac Disease 1 family:

Celiac Disease 5 Celiac Disease 4
Celiac Disease 2 Celiac Disease 3
Celiac Disease 6 Celiac Disease 7
Celiac Disease 8 Celiac Disease 9
Celiac Disease 10 Celiac Disease 11
Celiac Disease 12 Celiac Disease 13

Diseases related to Celiac Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 620)
# Related Disease Score Top Affiliating Genes
1 refractory celiac disease 33.9 HLA-DQB1 MYO9B
2 dermatitis herpetiformis 31.2 CD79A HLA-DQA1 HLA-DQB1 MYO9B TGM2
3 thyroiditis 31.0 CTLA4 PTPN22 TG TPO
4 immunoglobulin alpha deficiency 30.9 CD79A HLA-DQB1 TGM2
5 inflammatory bowel disease 30.9 CTLA4 HLA-DQA1 HLA-DQB1 MYO9B PTPN22
6 diabetes mellitus, insulin-dependent 30.8 CTLA4 HLA-DQA1 HLA-DQB1 PTPN22 TG TPO
7 myxedema 30.7 CTLA4 TG TPO
8 microscopic colitis 30.6 CD79A HLA-DQB1
9 autoimmune disease 30.6 CD79A CTLA4 HLA-DQA1 HLA-DQB1 PTPN22 TG
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.5 CTLA4 PTPN22 TG TPO
11 hashimoto thyroiditis 30.5 CTLA4 PTPN22 TG TPO
12 graves' disease 30.5 CTLA4 HLA-DQA1 PTPN22 TG TPO
13 alopecia areata 30.3 CTLA4 HLA-DQA1 PTPN22
14 neonatal hypothyroidism 30.1 TG TPO
15 hyperthyroidism 29.9 CTLA4 TG TPO
16 graves disease 1 29.9 TG TPO
17 pernicious anemia 29.9 TG TPO
18 celiac disease 4 11.5
19 celiac disease 3 11.5
20 celiac disease 5 11.4
21 celiac disease 2 11.4
22 celiac disease 6 11.4
23 celiac disease 7 11.4
24 celiac disease 8 11.4
25 celiac disease 9 11.4
26 celiac disease 10 11.4
27 celiac disease 11 11.4
28 celiac disease 12 11.4
29 celiac disease 13 11.4
30 down syndrome 11.3
31 osteomalacia 11.3
32 cholangitis, primary sclerosing 11.3
33 iga glomerulonephritis 11.3
34 rickets 11.3
35 collagenous gastritis 11.3
36 whipple disease 11.2
37 autoimmune disease, multisystem, infantile-onset, 1 11.1
38 epilepsy with bilateral occipital calcifications 11.1
39 epilepsy occipital calcifications 11.1
40 autoimmune peripheral neuropathy 11.0
41 osmotic diarrhea 11.0
42 mononeuritis multiplex 11.0
43 sensory peripheral neuropathy 11.0
44 autoimmune polyendocrine syndrome, type ii 10.9
45 bartter syndrome, type 3 10.9
46 diarrhea 5, with tufting enteropathy, congenital 10.9
47 bile acid malabsorption, primary 10.9
48 brittle diabetes 10.9
49 opsoclonus-myoclonus syndrome 10.9
50 myoclonic encephalopathy of infants 10.9

Comorbidity relations with Celiac Disease 1 via Phenotypic Disease Network (PDN):


Chylomicron Retention Disease Deficiency Anemia
Hypothyroidism Iron Deficiency Anemia
Protein-Energy Malnutrition Tropical Sprue

Graphical network of the top 20 diseases related to Celiac Disease 1:



Diseases related to Celiac Disease 1

Symptoms & Phenotypes for Celiac Disease 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
cerebral calcification

Growth Height:
short stature

Skeletal Limbs:
arthralgia

Neurologic Peripheral Nervous System:
peripheral neuropathy

Skin Nails Hair Hair:
alopecia

Hematology:
thrombocytosis
iron deficiency anemia (adults)
macrocytic anemia (folate or rarely b12 deficiency)

Head And Neck Mouth:
recurrent aphthous stomatitis

Neoplasia:
esophageal cancer
intestinal t-cell lymphoma
small bowel cancer
pharyngeal cancer

Head And Neck Teeth:
hypoplastic dental enamel

Skeletal:
osteoporosis (70% of patients)

Growth Other:
failure to thrive
growth retardation (children)

Endocrine Features:
delayed puberty
infertility
type 1 diabetes
autoimmune thyroiditis

Growth Weight:
weight loss

Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression

Laboratory Abnormalities:
hypocalcemia
vitamin d deficiency
prolonged prothrombin time
vitamin k deficiency
iiga and igg antigliadin antibodies (aga)
more
Immunology:
iga deficiency

Abdomen Gastrointestinal:
steatorrhea
recurrent abdominal pain
watery diarrhea (children and adults)
small intestine inflammation
flattened villi
more
Skin Nails Hair Skin:
follicular keratosis
dermatitis herpetiformis

Abdomen External Features:
abdominal distention (children)


Clinical features from OMIM:

212750

Symptoms:

12
  • constipation
  • abdominal pain
  • diarrhea
  • nausea
  • loss of appetite

Human phenotypes related to Celiac Disease 1:

32 (show all 43)
# Description HPO Frequency HPO Source Accession
1 depressivity 32 HP:0000716
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 failure to thrive 32 HP:0001508
5 cerebral calcification 32 HP:0002514
6 short stature 32 HP:0004322
7 delayed puberty 32 HP:0000823
8 vomiting 32 HP:0002013
9 rickets 32 HP:0002748
10 type i diabetes mellitus 32 HP:0100651
11 osteoporosis 32 HP:0000939
12 arthralgia 32 HP:0002829
13 abdominal pain 32 HP:0002027
14 weight loss 32 HP:0001824
15 postnatal growth retardation 32 HP:0008897
16 anxiety 32 HP:0000739
17 alopecia 32 HP:0001596
18 celiac disease 32 HP:0002608
19 thyroiditis 32 HP:0100646
20 hypocalcemia 32 HP:0002901
21 iron deficiency anemia 32 HP:0001891
22 thrombocytosis 32 HP:0001894
23 vitamin d deficiency 32 HP:0100512
24 diarrhea 32 HP:0002014
25 eczema 32 HP:0000964
26 lymphoma 32 HP:0002665
27 infertility 32 HP:0000789
28 abdominal distention 32 HP:0003270
29 iga deficiency 32 HP:0002720
30 macrocytic anemia 32 HP:0001972
31 polyneuropathy 32 HP:0001271
32 recurrent aphthous stomatitis 32 HP:0011107
33 abnormality of the coagulation cascade 32 HP:0003256
34 prolonged partial thromboplastin time 32 HP:0003645
35 prolonged prothrombin time 32 HP:0008151
36 vitamin k deficiency 32 HP:0011892
37 steatorrhea 32 HP:0002570
38 hypoplasia of dental enamel 32 HP:0006297
39 abnormality of the abdominal wall 32 HP:0004298
40 stomatitis 32 HP:0010280
41 folate deficiency 32 HP:0100507
42 elevated hepatic transaminase 32 HP:0002910
43 vitamin b12 deficiency 32 occasional (7.5%) HP:0100502

UMLS symptoms related to Celiac Disease 1:


nausea and vomiting, constipation, abdominal pain, diarrhea, icterus, dyspepsia, heartburn, gastrointestinal gas

MGI Mouse Phenotypes related to Celiac Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.76 CTLA4 HLA-DQA1 HLA-DQB1 IRF1 PTPN22 TG
2 hematopoietic system MP:0005397 9.65 CD79A CTLA4 HLA-DQA1 HLA-DQB1 IRF1 MYO9B
3 immune system MP:0005387 9.32 CD79A CTLA4 HLA-DQA1 HLA-DQB1 IRF1 MYO9B

Drugs & Therapeutics for Celiac Disease 1

Search Clinical Trials , NIH Clinical Center for Celiac Disease 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Celiac Disease 1 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Celiac Disease 1:
Regenerative ColoTherapy´┐Ż, stem cells for inflammatory bowel diseases
Embryonic/Adult Cultured Cells Related to Celiac Disease 1:
Adipose-derived mesenchymal stem cells (family)
Peripheral blood-derived hematopoietic stem cells (family)

Cochrane evidence based reviews: celiac disease

Genetic Tests for Celiac Disease 1

Genetic tests related to Celiac Disease 1:

# Genetic test Affiliating Genes
1 Celiac Disease 29 HLA-DQA1 HLA-DQB1

Anatomical Context for Celiac Disease 1

MalaCards organs/tissues related to Celiac Disease 1:

41
Small Intestine, Testes, T Cells, Thyroid, Bone, Skin, Liver

The Foundational Model of Anatomy Ontology organs/tissues related to Celiac Disease 1:

19
Small Intestine To Gliadin

Publications for Celiac Disease 1

Articles related to Celiac Disease 1:

(show top 50) (show all 2573)
# Title Authors Year
1
The pre-treatment characteristics and evaluation of the effects of recombinant human growth hormone therapy in children with growth hormone deficiency and celiac disease or inflammatory bowel disease. ( 29736148 )
2018
2
Celiac disease associated with aplastic anemia in a 6-year-old girl: a case report and review of the literature. ( 29361973 )
2018
3
Prevalence of celiac disease in patients with Down syndrome: a meta-analysis. ( 29435186 )
2018
4
A subset of patients with pemphigoid (herpes) gestationis has serological evidence of celiac disease. ( 29473148 )
2018
5
Anti-transglutaminase 6 Antibody Development in Children With Celiac Disease Correlates With Duration of Gluten Exposure. ( 28542044 )
2018
6
A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. ( 29787419 )
2018
7
Clozapine Associated With Microscopic Colitis in the Setting of Biopsy-Proven Celiac Disease. ( 29424803 )
2018
8
Colorectal Adenoma Risk Is Increased among Recently Diagnosed Adult Celiac Disease Patients. ( 29849594 )
2018
9
Screening for autoimmune thyroiditis and celiac disease in minority children with type 1 diabetes. ( 29949512 )
2018
10
Celiac Disease and Wheat Allergy: A Growing Association? ( 29847816 )
2018
11
Celiac Disease in Children with Moderate-to-Severe Iron-deficiency Anemia. ( 29396932 )
2018
12
When your patient's parent asks: "My child's alopecia areata is not getting better. Should he or she get tested for celiac disease?" ( 29797748 )
2018
13
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
14
Prevalence of celiac disease among pediatric patients with cryptogenic cirrhosis and effect of gluten-free-diet. ( 29948993 )
2018
15
Spastic paraparesis revealing celiac disease. ( 29562387 )
2018
16
The prevalence of celiac disease in adult Chinese patients with diarrhea predominant irritable bowel syndrome of China, a prospective, controlled, cohort study. ( 29451364 )
2018
17
Celiac Disease and Secondary Amyloidosis: A Possible Causal Association? ( 29619399 )
2018
18
Celiac disease-specific and inflammatory bowel disease-related antibodies in patients with recurrent aphthous stomatitis. ( 30446336 )
2018
19
Autism Spectrum Disorders and Celiac Disease: Is there an Association? ( 30426961 )
2018
20
Central retinal vein occlusion revealing celiac disease: The first report of two cases from India. ( 30127151 )
2018
21
Expression patterns common and unique to ulcerative colitis and celiac disease. ( 30402962 )
2018
22
Dietary Gluten Intake and Risk of Microscopic Colitis Among US Women without Celiac Disease: A Prospective Cohort Study. ( 30181535 )
2018
23
Is celiac disease misdiagnosed in children with functional constipation? ( 29749329 )
2018
24
A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease. ( 30498130 )
2018
25
The role of TMPRSS6 and HFE variants in iron deficiency anemia in celiac disease. ( 29194702 )
2018
26
ASSOCIATION OF POTENTIAL CELIAC DISEASE AND REFRACTORY IRON DEFICIENCY ANEMIA IN CHILDREN AND ADOLESCENTS. ( 29561983 )
2018
27
Prevalence of Celiac Disease in Patients With Iron Deficiency Anemia-A Systematic Review With Meta-analysis. ( 29689265 )
2018
28
Does a gluten-free diet determine the efficacy of sotagliflozin in patients with concomitant type 1 diabetes mellitus and celiac disease? ( 30302172 )
2018
29
Occurrence of Hypothyroidism, Diabetes Mellitus, and Celiac Disease in Emirati Children with Down's Syndrome. ( 30210717 )
2018
30
An unexpected deterrent in diagnosing refractory celiac disease and enteropathy-associated T-cell lymphoma: a gluten-free diet. ( 30181834 )
2018
31
Eosinophilic esophagitis and celiac disease. ( 29856172 )
2018
32
SEROLOGICAL SCREENING FOR CELIAC DISEASE IN CHILDREN WITH COLCHICINE-RESISTANT FAMILIAL MEDITERRANEAN FEVER. ( 30043869 )
2018
33
Culture of gastric biopsies in celiac disease and its relationship with gastritis and Helicobacter pylori infection. ( 29102523 )
2018
34
Genetics and serology of celiac disease during giardiasis. ( 30353768 )
2018
35
Glioblastoma Multiforme in a Patient with Celiac Disease: Management of Seizures After Gross Total Tumor Resection. ( 30010063 )
2018
36
Graves' disease and celiac disease in a patient with myotonic dystrophy type 2. ( 30197184 )
2018
37
Helicobacter pylori infection and occurrence of celiac disease in subjects HLA-DQ2/DQ8 positive: A prospective study. ( 29345406 )
2018
38
EBV-Associated Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis in a Patient with Severe Celiac Disease. ( 29692937 )
2018
39
Infertility patients in general and those with celiac disease may be able to breathe a sigh of relief. ( 30049415 )
2018
40
Unexplained Infertility and Undiagnosed Celiac Disease: Study of a Multiethnic Canadian Population. ( 29132967 )
2018
41
Phenotype and Clinical Course of Inflammatory Bowel Disease With Co-existent Celiac Disease. ( 29741603 )
2018
42
Link Between Celiac Disease and Inflammatory Bowel Disease. ( 29762265 )
2018
43
Intussusception in celiac disease: Is it a common feature in children? ( 28688105 )
2018
44
Beyond Irritable Bowel Syndrome: The Efficacy of the Low Fodmap Diet for Improving Symptoms in Inflammatory Bowel Diseases and Celiac Disease. ( 29763907 )
2018
45
Celiac disease is uncommon in irritable bowel syndrome in the USA. ( 29240001 )
2018
46
Prevalence of Chronic Liver Disease Among the Patients of Celiac Disease and Effect of Gluten-Free Diet on Outcome of Liver Disease: A Prospective Study. ( 30341866 )
2018
47
Prevalence of Micronutrient Deficiency in Patients with Morbid Obesity Before Bariatric Surgery: What About Celiac Disease? ( 29150741 )
2018
48
Celiac disease presenting as motor neuron disease. ( 30504587 )
2018
49
Celiac disease and risk of myasthenia gravis - nationwide population-based study. ( 29529996 )
2018
50
Celiac Disease Diagnosed through Screening Programs in At-Risk Adults Is Not Associated with Worse Adherence to the Gluten-Free Diet and Might Protect from Osteopenia/Osteoporosis. ( 30544494 )
2018

Variations for Celiac Disease 1

Expression for Celiac Disease 1

Search GEO for disease gene expression data for Celiac Disease 1.

Pathways for Celiac Disease 1

GO Terms for Celiac Disease 1

Cellular components related to Celiac Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQA1 HLA-DQB1
2 MHC class II protein complex GO:0042613 8.62 HLA-DQA1 HLA-DQB1

Biological processes related to Celiac Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.77 CD79A CTLA4 HLA-DQA1 IRF1 PTPN22
2 T cell receptor signaling pathway GO:0050852 9.58 HLA-DQA1 HLA-DQB1 PTPN22
3 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.32 HLA-DQA1 HLA-DQB1
4 regulation of innate immune response GO:0045088 9.26 IRF1 PTPN22
5 hormone biosynthetic process GO:0042446 9.16 TG TPO
6 interferon-gamma-mediated signaling pathway GO:0060333 9.13 HLA-DQA1 HLA-DQB1 IRF1
7 negative regulation of regulatory T cell differentiation GO:0045590 8.62 CTLA4 IRF1

Molecular functions related to Celiac Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MHC class II receptor activity GO:0032395 8.62 HLA-DQA1 HLA-DQB1

Sources for Celiac Disease 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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