Autoimmunity, and Malabsorption

Diseases related with Autoimmunity and Malabsorption

In the following list you will find some of the most common rare diseases related to Autoimmunity and Malabsorption that can help you solving undiagnosed cases.


Top matches:

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY


Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

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Other less relevant matches:

Low match DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS


Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Low match TRANSIENT NEONATAL DIABETES MELLITUS


Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match PRIMARY BILIARY CHOLANGITIS


Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


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.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Top 5 symptoms//phenotypes associated to Autoimmunity and Malabsorption

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Malabsorption. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Hepatomegaly Abnormal intestine morphology Fatigue Seizures Xerostomia Arthralgia Ascites Abdominal pain Steatorrhea Vomiting Arthritis Antinuclear antibody positivity

Rare Symptoms - Less than 30% cases


Hypertension Elevated alkaline phosphatase Elevated erythrocyte sedimentation rate Dysphagia Muscle weakness Type I diabetes mellitus Renal insufficiency Constipation Chronic diarrhea Keratoconjunctivitis sicca Skin rash Gastroesophageal reflux Pruritus Nausea and vomiting Telangiectasia Skin ulcer Telangiectasia of the skin Scleroderma Asthma Cholestasis Fever Cirrhosis Jaundice Elevated hepatic transaminase Myalgia Abnormality of the liver Hepatitis Biliary cirrhosis Hypocalcemia Thyroiditis Inflammation of the large intestine Hyperpigmentation of the skin Eczema Hypoalbuminemia Osteoporosis Vitamin B12 deficiency Global developmental delay Abdominal distention Macrocephaly Alopecia Diabetes mellitus Confusion Paresthesia Celiac disease Proteinuria Dystrophic fingernails Peripheral edema Lymphadenopathy Meningitis Stage 5 chronic kidney disease Osteoarthritis Gastrointestinal carcinoma Glossitis Patchy alopecia Hamartomatous polyposis Myocardial infarction Chest pain Stomach cancer Nephrotic syndrome Protein-losing enteropathy Intestinal polyposis Furrowed tongue Abnormality of the kidney Nausea Nephropathy Erythema Hepatocellular carcinoma Hepatosplenomegaly Recurrent fungal infections Osteomalacia Excessive daytime somnolence Orthostatic hypotension Allergy Conjugated hyperbilirubinemia Cholangitis Cholestatic liver disease Vasculitis Abnormality of the thyroid gland Hepatic encephalopathy Portal hypertension Hepatic fibrosis Increased IgA level Acidosis Sleep disturbance Hepatic failure Scarring Onychomycosis Gastrointestinal inflammation Increased IgM level Encephalopathy Decreased taste sensation Dermatographic urticaria Abnormality of the intrahepatic bile duct Abnormality of lipid metabolism Headache Arrhythmia Fat malabsorption Pericarditis Nephrocalcinosis Rickets Anxiety Irritability Postnatal growth retardation Delayed puberty Infertility Polyneuropathy Nevus Lymphoma Cerebral calcification Inflammatory abnormality of the skin Hypoplasia of dental enamel Spontaneous abortion Abnormality of the coagulation cascade Ataxia Malnutrition Macrocytic anemia IgA deficiency Iron deficiency anemia Thrombocytosis Chronic fatigue Prolonged partial thromboplastin time Stomatitis Recurrent aphthous stomatitis Prolonged prothrombin time Abnormality of the abdominal wall Folate deficiency Vitamin D deficiency Depressivity Short stature Purpura Acute hepatic failure Pancreatitis Chronic kidney disease Systemic lupus erythematosus Rheumatoid arthritis Intestinal obstruction Leukocytosis Hyperkalemia Amyloidosis Dystrophic toenail Episodic fever Increased serum ferritin Gout Edema of the lower limbs Oral leukoplakia Orchitis Anemia of inadequate production Peritonitis Decreased circulating aldosterone level Synovitis Stiff neck Pleuritis Congenital hypoplastic anemia Erysipelas Gastrointestinal infarctions Renal amyloidosis Azotemia Serositis Recurrent meningitis Clubbing of fingers Hypovolemia Hematochezia Osteolysis Abnormal lung morphology Short chin Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis Flexion contracture Congestive heart failure Dyspnea Carious teeth Abnormality of the skin Pulmonary arterial hypertension Pulmonary fibrosis Camptodactyly Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Narrow foramen obturatorium Abnormal bowel sounds Respiratory insufficiency Gastrointestinal hemorrhage Hyperbilirubinemia Encephalitis Dolichocephaly Hypothyroidism Raynaud phenomenon Autoimmune hemolytic anemia Paralysis Sensory impairment Megaloblastic anemia Poikiloderma Malabsorption of Vitamin B12 Immunodeficiency Recurrent infections Recurrent respiratory infections Hemolytic anemia Recurrent otitis media Lymphopenia Combined immunodeficiency Severe combined immunodeficiency Proptosis Decrease in T cell count Bronchiolitis Bronchiolitis obliterans Decreased proportion of CD8-positive T cells Recurrent gastroenteritis Generalized hypotonia Abnormal facial shape Low-set ears Frontal bossing Clinodactyly Posteriorly rotated ears Respiratory failure Irregular hyperpigmentation Calcinosis Hypomagnesemia Nail dysplasia Abnormality of the upper urinary tract Dementia Transient neonatal diabetes mellitus Contractures of the joints of the lower limbs Abnormality of the pancreatic islet cells Elevated hemoglobin A1c Neoplasm Cataract Edema Nail dystrophy Abnormality of skin pigmentation Tapered finger Anorexia Ketonuria Lymphedema Abnormality of the fingernails Cachexia Hypokalemia Clubbing Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Colon cancer Sparse body hair Generalized hyperpigmentation Thromboembolism Abnormality of the vasculature Autoimmune antibody positivity Maternal diabetes Esophageal varix Intrauterine growth retardation Lichenification Abnormality of the gastric mucosa Mucosal telangiectasiae Sclerodactyly Lip telangiectasia Palmar telangiectasia Calcinosis cutis Generalized abnormality of skin Intellectual disability Hearing impairment Muscular hypotonia Motor delay Abnormal heart morphology Renal tubular dysfunction Generalized tonic-clonic seizures Arthrogryposis multiplex congenita Downturned corners of mouth Coma Generalized myoclonic seizures Dehydration Apraxia Insulin resistance Bilateral ptosis Hyperglycemia Neurodevelopmental delay Glycosuria Prominent metopic ridge Vitamin K deficiency



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Craniosynostosis, related diseases and genetic alterations

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