CELIAC DISEASE, SUSCEPTIBILITY TO, 1

General Information (adopted from Orphanet):

Synonyms, Signs: GLUTEN-SENSITIVE ENTEROPATHY
CELIAC1, INCLUDED
CELIAC SPRUE
GSE CELIAC DISEASE, SUSCEPTIBILITY TO, 1, INCLUDED
CD
Number of Symptoms 67
OrphanetNr:
OMIM Id: 212750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
Multifactorial
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
3
(HPO:0006297) Hypoplasia of dental enamel 64 / 7739
4
(HPO:0009830) Peripheral neuropathy 206 / 7739
5
(HPO:0000716) Depression 99 / 7739
6
(HPO:0000739) Anxiety 67 / 7739
7
(HPO:0001271) Polyneuropathy 56 / 7739
8
(HPO:0001250) Seizures 1245 / 7739
9
(HPO:0001251) Ataxia 413 / 7739
10
(HPO:0000823) Delayed puberty 65 / 7739
11
(HPO:0100651) Type I diabetes mellitus 44 / 7739
12
(HPO:0000939) Osteoporosis 129 / 7739
13
(HPO:0002659) Increased susceptibility to fractures 110 / 7739
14
(HPO:0002514) Cerebral calcification 89 / 7739
15
(HPO:0002829) Arthralgia 79 / 7739
16
(HPO:0002748) Rickets 41 / 7739
17
(HPO:0002014) Diarrhea 225 / 7739
18
(HPO:0002570) Steatorrhea 31 / 7739
19
(HPO:0002013) Vomiting 191 / 7739
20
(HPO:0002027) Abdominal pain 184 / 7739
21
(HPO:0002608) Celiac disease 5 / 7739
22
(HPO:0004298) Abnormality of the abdominal wall 20 / 7739
23
(HPO:0003270) Abdominal distention 46 / 7739
24
(HPO:0002028) Chronic diarrhea 51 / 7739
25
(HPO:0100751) Esophageal neoplasm 8 / 7739
26
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
27
(HPO:0001824) Weight loss 42 / 7739
28
(HPO:0001510) Growth delay 295 / 7739
29
(HPO:0008897) Postnatal growth retardation 113 / 7739
30
(HPO:0001508) Failure to thrive 454 / 7739
31
(HPO:0004322) Short stature 1232 / 7739
32
(HPO:0001596) Alopecia 162 / 7739
33
(HPO:0000964) Eczema 81 / 7739
34
(HPO:0002720) IgA deficiency 33 / 7739
35
(HPO:0001894) Thrombocytosis 16 / 7739
36
(HPO:0001891) Iron deficiency anemia 22 / 7739
37
(HPO:0002665) Lymphoma 60 / 7739
38
(HPO:0001972) Macrocytic anemia 26 / 7739
39
(HPO:0003645) Prolonged partial thromboplastin time 20 / 7739
40
(HPO:0008151) Prolonged prothrombin time 13 / 7739
41
(HPO:0011892) Vitamin K deficiency 4 / 7739
42
(HPO:0003223) Decreased methylcobalamin 11 / 7739
43
(HPO:0100507) Folate deficiency 2 / 7739
44
(HPO:0002901) Hypocalcemia 56 / 7739
45
(HPO:0100512) Vitamin D deficiency 2 / 7739
46
(HPO:0100502) Vitamin B12 deficiency rare [HPO:skoehler] 4 / 7739
47
(OMIM) Increased intraepithelial lymphocytes 1 / 7739
48
(MedDRA:10022704) Intestinal T-cell lymphomas 1 / 7739
49
(MedDRA:10034811) Pharyngeal cancer 1 / 7739
50
(MedDRA:10012468) Dermatitis herpetiformis 2 / 7739
51
(MedDRA:10049046) Autoimmune thyroiditis 1 / 7739
52
(OMIM) Small bowel cancer 1 / 7739
53
(OMIM) Small intestine inflammation 1 / 7739
54
(OMIM) Hyperplastic crypts 1 / 7739
55
(HPO:0001426) Multifactorial inheritance 37 / 7739
56
(OMIM) Flattened villi 1 / 7739
57
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
58
(OMIM) IigA and IgG antigliadin antibodies (AGA) 1 / 7739
59
(HPO:0001425) Heterogeneous 132 / 7739
60
(MedDRA:10023369) Keratosis follicular 5 / 7739
61
(OMIM) Infiltration of lamina propria with plasma cells and lymphocytes 1 / 7739
62
(OMIM) Anti-tissue transglutaminase antibodies (anti-tTG) 1 / 7739
63
(OMIM) Recurrent abdominal pain 3 / 7739
64
(OMIM) Elevated liver transaminases 2 / 7739
65
(OMIM) Type 1 diabetes 1 / 7739
66
(OMIM) IgA antiendomysial antibodies (EMA) 1 / 7739
67
(OMIM) Hypoplastic dental enamel 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM In individuals with celiac disease, ingestion of gluten leads to inflammation and tissue remodeling of the intestinal mucosa, resulting in malnutrition and severe complications (summary by Monsuur et al., 2005).

Because of anecdotal accounts of an ...

Population genetics OMIM Trier (1991) pointed to prevalence rates of celiac disease ranging from 1:300 in western Ireland (Mylotte et al., 1973) to between 1:1,000 and 1:2,000 in other regions of Europe.

In the United States, the disease is ...

Diagnosis GeneReviews The diagnosis of celiac disease is made through the combination of the following [Hill et al 2005, NIH Consensus Committee 2005, Green & Cellier 2007]:...
Clinical Description GeneReviews While previously considered to be primarily a gastrointestinal disorder of malabsorption, celiac disease is now known to be a systemic autoimmune disease with gastrointestinal symptoms and multiple, highly variable non-gastrointestinal symptoms (see Figure 2). It is induced by dietary gluten in genetically susceptible individuals....
Genotype-Phenotype Correlations GeneReviews Individuals with the HLA-DQ8 genotype only are much less likely to have celiac disease than those with HLA-DQ2 genotype only....
Differential Diagnosis GeneReviews Celiac disease is underdiagnosed because of its variable, often subtle presentations and clinical overlap with several other conditions....
Management GeneReviews To establish the extent of disease in an individual diagnosed with celiac disease, the following evaluations are recommended:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....