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Celiac disease(CELIAC1)

MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Synonyms: CELIAC SPRUE, SUSCEPTIBILITY TO, 1; CELIAC1; Gluten-sensitive enteropathy; GLUTEN-SENSITIVE ENTEROPATHY, SUSCEPTIBILITY TO, 1
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype.
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Celiac disease (396331005); CD - Celiac disease (396331005); Idiopathic steatorrhea (396331005); Celiac sprue (396331005); CS - Celiac sprue (396331005); Celiac syndrome (396331005); Wheat-sensitive enteropathy (396331005); Gluten enteropathy (396331005); Sprue (396331005); Gluten-responsive sprue (396331005); GSE - Gluten-sensitive enteropathy (396331005); Gluten-sensitive enteropathy (396331005); Non-tropical sprue (396331005); Gluten-induced enteropathy syndrome (396331005); Nontropical sprue (396331005)
 
Genes (locations): HLA-DQA1 (6p21.32); HLA-DQB1 (6p21.32)
OMIM®: 212750
HPO: HP:0002608

Disease characteristics

Excerpted from the GeneReview: Celiac Disease
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, 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]
Authors:
Annette K Taylor  |  Benjamin Lebwohl  |  Cara L Snyder, et. al.   view full author information

Additional descriptions

From OMIM
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.  http://www.omim.org/entry/212750
From GHR
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.Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus.Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form.Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin.Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy.In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.  https://ghr.nlm.nih.gov/condition/celiac-disease

Clinical features

Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, 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.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Diarrhea
MedGen UID:
368098
Concept ID:
C1963091
Finding
Abnormality of the abdominal wall
MedGen UID:
867301
Concept ID:
C4021664
Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include. -Panic disorder . -Obsessive-compulsive disorder . -Post-traumatic stress disorder . -Phobias . -Generalized anxiety disorder . Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health .
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include : -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Polyneuropathy
MedGen UID:
504780
Concept ID:
CN001165
Finding
A generalized disorder of peripheral nerves.
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Lymphoma
MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.
Prolonged prothrombin time
MedGen UID:
56249
Concept ID:
C0151872
Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation.
Iron deficiency anemia
MedGen UID:
57668
Concept ID:
C0162316
Disease or Syndrome
Anemia characterized by decreased or absent iron stores, low serum iron concentration, low transferrin saturation, and low hemoglobin concentration or hematocrit value. The erythrocytes are hypochromic and microcytic and the iron binding capacity is increased.
Platelet count above reference range
MedGen UID:
852903
Concept ID:
C0857460
Finding
Increased numbers of platelets in the peripheral blood.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, 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.
Steatorrhea
MedGen UID:
20948
Concept ID:
C0038238
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Subclinical abnormal liver function tests
MedGen UID:
333969
Concept ID:
C1842003
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Diarrhea
MedGen UID:
368098
Concept ID:
C1963091
Finding
Abdominal pain
MedGen UID:
505060
Concept ID:
CN001834
Finding
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, 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.
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.
Aphthous Stomatitis
MedGen UID:
20959
Concept ID:
C0038363
Disease or Syndrome
Canker sores are small, round sores on the inside of the cheek, under the tongue, or in the back of the throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagious. They may happen if you have a viral infection. They may also be triggered by stress, food allergies, lack of vitamins and minerals, hormonal changes or menstrual periods. In some cases the cause is unknown. In most cases, the sores go away by themselves. Some ointments, creams or rinses may help with the pain. Avoiding hot, spicy food while you have a canker sore also helps.
Cobalamin deficiency
MedGen UID:
21880
Concept ID:
C0042847
Disease or Syndrome
A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)
Vitamin D deficiency
MedGen UID:
12114
Concept ID:
C0042870
Disease or Syndrome
Abnormally low level of 25-hydroxyvitamin D in the blood.
Vitamin K deficiency
MedGen UID:
22672
Concept ID:
C0042880
Disease or Syndrome
Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.
Hypocalcemia
MedGen UID:
505397
Concept ID:
CN002624
Finding
An abnormally decreased calcium concentration in the blood.
Folate deficiency
MedGen UID:
451856
Concept ID:
CN117400
Finding
A reduced concentration of folic acid, which is also known as vitamin B9.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include . - Getting older . - Being small and thin . - Having a family history of osteoporosis. - Taking certain medicines. - Being a white or Asian woman. - Having osteopenia, which is low bone density. Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Rickets
MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she. -Has dark skin. -Spends too little time outside. -Has on sunscreen all the time when out of doors. -Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet. -Is breastfed without receiving vitamin D supplements. -Can't make or use vitamin D because of a medical disorder such as celiac disease. In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within brain structures.
Hypoplasia of dental enamel
MedGen UID:
3730
Concept ID:
C0011351
Finding
A form of amelogenesis imperfecta characterized by incomplete formation of the dental enamel and transmitted as an X-linked or autosomal dominant trait.
Aphthous Stomatitis
MedGen UID:
20959
Concept ID:
C0038363
Disease or Syndrome
Canker sores are small, round sores on the inside of the cheek, under the tongue, or in the back of the throat. They usually have a red edge and a gray center. They can be quite painful. They are not the same as cold sores, which are caused by herpes simplex. Canker sores aren't contagious. They may happen if you have a viral infection. They may also be triggered by stress, food allergies, lack of vitamins and minerals, hormonal changes or menstrual periods. In some cases the cause is unknown. In most cases, the sores go away by themselves. Some ointments, creams or rinses may help with the pain. Avoiding hot, spicy food while you have a canker sore also helps.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
You lose up to 100 hairs from your scalp every day. That's normal, and in most people, those hairs grow back. But many men -- and some women -- lose hair as they grow older. You can also lose your hair if you have certain diseases, such as thyroid problems, diabetes, or lupus. If you take certain medicines or have chemotherapy for cancer, you may also lose your hair. Other causes are stress, a low protein diet, a family history, or poor nutrition. . Treatment for hair loss depends on the cause. In some cases, treating the underlying cause will correct the problem. Other treatments include medicines and hair restoration. .
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.
Delayed Puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Type I diabetes mellitus
MedGen UID:
506506
Concept ID:
CN117543
Finding
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.

Conditions with this feature

Celiac disease
MedGen UID:
3291
Concept ID:
C0007570
Disease or Syndrome
Celiac disease is a systemic autoimmune disease that can be associated with gastrointestinal findings (diarrhea, weight loss, abdominal pain, anorexia, lactose intolerance, abdominal distention, and irritability) and/or highly variable non-gastrointestinal findings (iron deficiency anemia, dermatitis herpetiformis, chronic fatigue, joint pain/inflammation, 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.
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to failure to thrive in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Floating-Harbor syndrome
MedGen UID:
152667
Concept ID:
C0729582
Disease or Syndrome
Floating-Harbor syndrome (FHS) is characterized by typical craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice; and intellectual disability that is typically mild to moderate. Difficulties with temperament and behavior that are present in many children tend to improve in adulthood. Other features can include: hyperopia and/or strabismus; conductive hearing loss; seizures; gastroesophageal reflux; renal anomalies (e.g., hydronephrosis/renal pelviectasis, cysts, and/or agenesis) and genital anomalies (e.g., hypospadias and/or undescended testes).
Epilepsy occipital calcifications
MedGen UID:
341654
Concept ID:
C1856930
Disease or Syndrome
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET
MedGen UID:
863232
Concept ID:
C4014795
Disease or Syndrome

Professional guidelines

PubMed

Ludvigsson JF, Bai JC, Biagi F, Card TR, Ciacci C, Ciclitira PJ, Green PH, Hadjivassiliou M, Holdoway A, van Heel DA, Kaukinen K, Leffler DA, Leonard JN, Lundin KE, McGough N, Davidson M, Murray JA, Swift GL, Walker MM, Zingone F, Sanders DS; BSG Coeliac Disease Guidelines Development Group; British Society of Gastroenterology
Gut 2014 Aug;63(8):1210-28. Epub 2014 Jun 10 doi: 10.1136/gutjnl-2013-306578. [Epub ahead of print] PMID: 24917550Free PMC Article
Bai JC, Fried M, Corazza GR, Schuppan D, Farthing M, Catassi C, Greco L, Cohen H, Ciacci C, Eliakim R, Fasano A, González A, Krabshuis JH, LeMair A; World Gastroenterology Organization
J Clin Gastroenterol 2013 Feb;47(2):121-6. doi: 10.1097/MCG.0b013e31827a6f83. PMID: 23314668

Recent clinical studies

Etiology

Sharma A, Liu X, Hadley D, Hagopian W, Liu E, Chen WM, Onengut-Gumuscu S, Simell V, Rewers M, Ziegler AG, Lernmark Å, Simell O, Toppari J, Krischer JP, Akolkar B, Rich SS, Agardh D, She JX; TEDDY Study Group
PLoS One 2016;11(3):e0152476. Epub 2016 Mar 25 doi: 10.1371/journal.pone.0152476. PMID: 27015091Free PMC Article
Taavela J, Popp A, Korponay-Szabo IR, Ene A, Vornanen M, Saavalainen P, Lähdeaho ML, Ruuska T, Laurila K, Parvan A, Anca I, Kurppa K, Mäki M
Am J Gastroenterol 2016 Jan;111(1):124-33. Epub 2016 Jan 5 doi: 10.1038/ajg.2015.387. [Epub ahead of print] PMID: 26729547
Saccone G, Berghella V, Sarno L, Maruotti GM, Cetin I, Greco L, Khashan AS, McCarthy F, Martinelli D, Fortunato F, Martinelli P
Am J Obstet Gynecol 2016 Feb;214(2):225-34. Epub 2015 Oct 9 doi: 10.1016/j.ajog.2015.09.080. [Epub ahead of print] PMID: 26432464
Lebwohl B, Murray JA, Verdú EF, Crowe SE, Dennis M, Fasano A, Green PH, Guandalini S, Khosla C
Am J Gastroenterol 2016 Jan;111(1):12-4. Epub 2015 Aug 11 doi: 10.1038/ajg.2015.219. [Epub ahead of print] PMID: 26259710Free PMC Article
Uusitalo U, Lee HS, Aronsson CA, Yang J, Virtanen SM, Norris J, Agardh D; Environmental Determinants of the Diabetes in the Young (TEDDY) study group
Am J Clin Nutr 2015 Nov;102(5):1216-21. Epub 2015 Oct 7 doi: 10.3945/ajcn.115.119370. [Epub ahead of print] PMID: 26447157Free PMC Article

Diagnosis

Sherman A 3rd, Zamulko A
S D Med 2016 Jun;69(6):253-5. PMID: 27443108
Sharma A, Liu X, Hadley D, Hagopian W, Liu E, Chen WM, Onengut-Gumuscu S, Simell V, Rewers M, Ziegler AG, Lernmark Å, Simell O, Toppari J, Krischer JP, Akolkar B, Rich SS, Agardh D, She JX; TEDDY Study Group
PLoS One 2016;11(3):e0152476. Epub 2016 Mar 25 doi: 10.1371/journal.pone.0152476. PMID: 27015091Free PMC Article
Taavela J, Popp A, Korponay-Szabo IR, Ene A, Vornanen M, Saavalainen P, Lähdeaho ML, Ruuska T, Laurila K, Parvan A, Anca I, Kurppa K, Mäki M
Am J Gastroenterol 2016 Jan;111(1):124-33. Epub 2016 Jan 5 doi: 10.1038/ajg.2015.387. [Epub ahead of print] PMID: 26729547
Saccone G, Berghella V, Sarno L, Maruotti GM, Cetin I, Greco L, Khashan AS, McCarthy F, Martinelli D, Fortunato F, Martinelli P
Am J Obstet Gynecol 2016 Feb;214(2):225-34. Epub 2015 Oct 9 doi: 10.1016/j.ajog.2015.09.080. [Epub ahead of print] PMID: 26432464
Uusitalo U, Lee HS, Aronsson CA, Yang J, Virtanen SM, Norris J, Agardh D; Environmental Determinants of the Diabetes in the Young (TEDDY) study group
Am J Clin Nutr 2015 Nov;102(5):1216-21. Epub 2015 Oct 7 doi: 10.3945/ajcn.115.119370. [Epub ahead of print] PMID: 26447157Free PMC Article

Therapy

Lebwohl B, Murray JA, Verdú EF, Crowe SE, Dennis M, Fasano A, Green PH, Guandalini S, Khosla C
Am J Gastroenterol 2016 Jan;111(1):12-4. Epub 2015 Aug 11 doi: 10.1038/ajg.2015.219. [Epub ahead of print] PMID: 26259710Free PMC Article
Uusitalo U, Lee HS, Aronsson CA, Yang J, Virtanen SM, Norris J, Agardh D; Environmental Determinants of the Diabetes in the Young (TEDDY) study group
Am J Clin Nutr 2015 Nov;102(5):1216-21. Epub 2015 Oct 7 doi: 10.3945/ajcn.115.119370. [Epub ahead of print] PMID: 26447157Free PMC Article
Kav T, Sokmensuer C, Sivri B
Comput Biol Med 2015 Oct 1;65:315-9. Epub 2015 Aug 8 doi: 10.1016/j.compbiomed.2015.07.025. [Epub ahead of print] PMID: 26293571
Choung RS, Rubio-Tapia A, Lahr BD, Kyle RA, Camilleri MJ, Locke GR 3rd, Talley NJ, Murray JA
Clin Gastroenterol Hepatol 2015 Nov;13(11):1937-43. Epub 2015 May 16 doi: 10.1016/j.cgh.2015.05.014. [Epub ahead of print] PMID: 25987301Free PMC Article
Leffler DA, Kelly CP, Green PH, Fedorak RN, DiMarino A, Perrow W, Rasmussen H, Wang C, Bercik P, Bachir NM, Murray JA
Gastroenterology 2015 Jun;148(7):1311-9.e6. Epub 2015 Feb 13 doi: 10.1053/j.gastro.2015.02.008. [Epub ahead of print] PMID: 25683116Free PMC Article

Prognosis

Sharma A, Liu X, Hadley D, Hagopian W, Liu E, Chen WM, Onengut-Gumuscu S, Simell V, Rewers M, Ziegler AG, Lernmark Å, Simell O, Toppari J, Krischer JP, Akolkar B, Rich SS, Agardh D, She JX; TEDDY Study Group
PLoS One 2016;11(3):e0152476. Epub 2016 Mar 25 doi: 10.1371/journal.pone.0152476. PMID: 27015091Free PMC Article
Taavela J, Popp A, Korponay-Szabo IR, Ene A, Vornanen M, Saavalainen P, Lähdeaho ML, Ruuska T, Laurila K, Parvan A, Anca I, Kurppa K, Mäki M
Am J Gastroenterol 2016 Jan;111(1):124-33. Epub 2016 Jan 5 doi: 10.1038/ajg.2015.387. [Epub ahead of print] PMID: 26729547
Saccone G, Berghella V, Sarno L, Maruotti GM, Cetin I, Greco L, Khashan AS, McCarthy F, Martinelli D, Fortunato F, Martinelli P
Am J Obstet Gynecol 2016 Feb;214(2):225-34. Epub 2015 Oct 9 doi: 10.1016/j.ajog.2015.09.080. [Epub ahead of print] PMID: 26432464
Uusitalo U, Lee HS, Aronsson CA, Yang J, Virtanen SM, Norris J, Agardh D; Environmental Determinants of the Diabetes in the Young (TEDDY) study group
Am J Clin Nutr 2015 Nov;102(5):1216-21. Epub 2015 Oct 7 doi: 10.3945/ajcn.115.119370. [Epub ahead of print] PMID: 26447157Free PMC Article
Reilly NR, Lebwohl B, Hultcrantz R, Green PH, Ludvigsson JF
J Hepatol 2015 Jun;62(6):1405-11. Epub 2015 Jan 21 doi: 10.1016/j.jhep.2015.01.013. [Epub ahead of print] PMID: 25617505Free PMC Article

Clinical prediction guides

Taavela J, Popp A, Korponay-Szabo IR, Ene A, Vornanen M, Saavalainen P, Lähdeaho ML, Ruuska T, Laurila K, Parvan A, Anca I, Kurppa K, Mäki M
Am J Gastroenterol 2016 Jan;111(1):124-33. Epub 2016 Jan 5 doi: 10.1038/ajg.2015.387. [Epub ahead of print] PMID: 26729547
Elli L, Branchi F, Tomba C, Villalta D, Norsa L, Ferretti F, Roncoroni L, Bardella MT
World J Gastroenterol 2015 Jun 21;21(23):7110-9. doi: 10.3748/wjg.v21.i23.7110. PMID: 26109797Free PMC Article
Yang JJ, Thanataveerat A, Green PH, Lebwohl B
Clin Gastroenterol Hepatol 2015 Aug;13(8):1437-43. Epub 2015 Mar 25 doi: 10.1016/j.cgh.2015.03.022. [Epub ahead of print] PMID: 25818076Free PMC Article
Jensen ET, Eluri S, Lebwohl B, Genta RM, Dellon ES
Clin Gastroenterol Hepatol 2015 Aug;13(8):1426-31. Epub 2015 Feb 24 doi: 10.1016/j.cgh.2015.02.018. [Epub ahead of print] PMID: 25724709Free PMC Article
Leffler DA, Kelly CP, Green PH, Fedorak RN, DiMarino A, Perrow W, Rasmussen H, Wang C, Bercik P, Bachir NM, Murray JA
Gastroenterology 2015 Jun;148(7):1311-9.e6. Epub 2015 Feb 13 doi: 10.1053/j.gastro.2015.02.008. [Epub ahead of print] PMID: 25683116Free PMC Article

Recent systematic reviews

Saccone G, Berghella V, Sarno L, Maruotti GM, Cetin I, Greco L, Khashan AS, McCarthy F, Martinelli D, Fortunato F, Martinelli P
Am J Obstet Gynecol 2016 Feb;214(2):225-34. Epub 2015 Oct 9 doi: 10.1016/j.ajog.2015.09.080. [Epub ahead of print] PMID: 26432464
Singh P, Arora S, Lal S, Strand TA, Makharia GK
Am J Gastroenterol 2015 Nov;110(11):1539-48. Epub 2015 Sep 29 doi: 10.1038/ajg.2015.296. [Epub ahead of print] PMID: 26416192
Yang JJ, Thanataveerat A, Green PH, Lebwohl B
Clin Gastroenterol Hepatol 2015 Aug;13(8):1437-43. Epub 2015 Mar 25 doi: 10.1016/j.cgh.2015.03.022. [Epub ahead of print] PMID: 25818076Free PMC Article
Heikkilä K, Pearce J, Mäki M, Kaukinen K
J Clin Endocrinol Metab 2015 Jan;100(1):25-34. doi: 10.1210/jc.2014-1858. PMID: 25279497
Bhatia BK, Millsop JW, Debbaneh M, Koo J, Linos E, Liao W
J Am Acad Dermatol 2014 Aug;71(2):350-8. Epub 2014 Apr 26 doi: 10.1016/j.jaad.2014.03.017. [Epub ahead of print] PMID: 24780176Free PMC Article

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