Autoimmunity, and Pancreatitis

Diseases related with Autoimmunity and Pancreatitis

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

Top matches:

THPM1 is an autosomal recessive trait associated with severe hematopoietic toxicity when patients are treated with standard doses of the antineoplastic agents 6-mercaptopurine (6MP) or 6-thioguanine (6TG), or the immunosuppressant azathioprine (AZA) (Lennard et al., 1989).The thiopurines are prodrugs that require extensive metabolism in order to exert their cytotoxic action. Azathioprine is nonenzymatically reduced to 6MP. 6MP and 6TG are activated by HPRT (OMIM ) and subsequent steps to form cytotoxic thioguanine nucleotides (TGNs) which are incorporated into DNA and/or RNA, causing DNA-protein cross-links, single-strand breaks, interstrand cross-links, and sister chromatid exchange. TPMT functions mainly to inactivate these drugs; thus, a deficiency of TPMT results in increased conversion to toxic TGNs, which can result in myelosuppression (Coulthard and Hogarth, 2005). However, 6MP is unique in that it can also be converted via TPMT into a methyl-thioinosine 5-prime monophosphate (MeTIMP), a metabolite that inhibits de novo purine synthesis and likely contributes to the cytotoxic effect of 6MP (Vogt et al., 1993; Krynetski et al., 1995; Coulthard and Hogarth, 2005). Genetic Heterogeneity of Poor Thiopurine MetabolismSee also THPM2 (OMIM ), caused by variation in the NUDT15 gene (OMIM ) on chromosome 13q14.

THIOPURINES, POOR METABOLISM OF, 1; THPM1 Is also known as thiopurine s-methyltransferase deficiency|tpmt deficiency|tpmtd

Related symptoms:

  • Abnormality of metabolism/homeostasis
  • Autoimmunity
  • Leukemia
  • Pancytopenia
  • Bone marrow hypocellularity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIOPURINES, POOR METABOLISM OF, 1; THPM1

Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. HHC is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone (PTH ) level. Hypermagnesemia is typically present. Individuals with HHC are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults (summary by Hannan et al., 2010).Characteristic features of familial hypocalciuric hypercalcemia include mild to moderate hypercalcemia, nonsuppressed parathyroid hormone, relative hypocalciuria while hypercalcemic (calcium/creatinine clearance ratio less than 0.01, or 24-hr urine calcium less than 6.25 mmol), almost 100% penetrance of hypercalcemia from birth, absence of complications, persistence of hypercalcemia following subtotal parathyroidectomy, and normal parathyroid size, weight, and histology at surgery. However, atypical presentations with severe hypercalcemia, hypercalciuria with or without nephrolithiasis or nephrocalcinosis, kindreds with affected members displaying either hypercalciuria or hypocalciuria, postoperative normocalcemia, and pancreatitis have all been described in FHH (Warner et al., 2004). Genetic Heterogeneity of Hypocalciuric HypercalcemiaFamilial hypocalciuric hypercalcemia type II (HHC2 ) is caused by mutation in the GNA11 gene (OMIM ) on chromosome 19p13, and HHC3 (OMIM ) is caused by mutation in the AP2S1 gene (OMIM ) on chromosome 19q13.

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1 Is also known as hhc|familial benign hypercalcemia 1|hypercalcemia, familial benign|fhh|fbh1|fhh1

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Renal insufficiency
  • Headache


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1

Other less relevant matches:

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

Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism.

LYSINURIC PROTEIN INTOLERANCE Is also known as lpi|hyperdibasic aminoaciduria type 2|dibasic amino aciduria ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LYSINURIC PROTEIN INTOLERANCE

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

In addition to classic type 1 (see {222100}) and type 2 (see {125853}) diabetes mellitus, atypical presentations are seen, particularly in populations of African ancestry. Ketosis-prone diabetes, the most common atypical form, is characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding, and association with type 1 susceptibility HLA alleles is variable (Sobngwi et al., 2002).

Related symptoms:

  • Diabetes mellitus
  • Weight loss
  • Autoimmunity
  • Type II diabetes mellitus
  • Insulin resistance


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIABETES MELLITUS, KETOSIS-PRONE; KPD

Top 5 symptoms//phenotypes associated to Autoimmunity and Pancreatitis

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Fever Fatigue Weight loss Headache Seizures Diarrhea Pericarditis Myocardial infarction Arthralgia Hepatosplenomegaly Myalgia Arthritis Inflammation of the large intestine Malabsorption Nephropathy Chest pain Vasculitis Pleuritis Meningitis Glomerulopathy Hypertension Pleural effusion Glomerulonephritis Cirrhosis

Rare Symptoms - Less than 30% cases

Diabetes mellitus Amyloidosis Endocarditis Congestive heart failure Cardiomyopathy Peripheral neuropathy Hemoptysis Dyspnea Elevated erythrocyte sedimentation rate Pulmonary infiltrates Intestinal obstruction Rheumatoid arthritis Systemic lupus erythematosus Gangrene Purpura Myositis Dilatation Jaundice Respiratory insufficiency Subcutaneous nodule Venous thrombosis Elevated hepatic transaminase Increased inflammatory response Cognitive impairment Uveitis Cranial nerve paralysis Intellectual disability Visual loss Insulin resistance Increased serum ferritin Gastrointestinal hemorrhage Osteoporosis Paresthesia Papule Cough Stroke Acute hepatic failure Retinopathy Osteopenia Orchitis Cerebral ischemia Scarring Acidosis Cholelithiasis Nephrocalcinosis Nephrolithiasis Constipation Neoplasm Polydipsia Polyuria Leukopenia Anemia Type I diabetes mellitus Arrhythmia Proteinuria Erythema Skin rash Lymphadenopathy Stage 5 chronic kidney disease Nausea Ascites Angina pectoris Chronic otitis media Sclerosing cholangitis Hemiplegia Abnormal eosinophil morphology Vitamin D deficiency Vitamin E deficiency Stridor Chronic obstructive pulmonary disease Diabetes insipidus Histiocytosis Pulmonary fibrosis Restrictive ventilatory defect Cholangiocarcinoma Wheezing Prolonged prothrombin time Cholangitis Cholestatic liver disease Tracheal stenosis Ulcerative colitis Petechiae Skin ulcer Vitamin A deficiency Sensory neuropathy Recurrent respiratory infections Proptosis Visual impairment Hydronephrosis Paralysis Sensorineural hearing impairment Hearing impairment Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Hematuria Abnormal large intestine physiology Vitamin K deficiency Spider hemangioma Polyclonal elevation of IgM Otitis media Epistaxis Elevated alkaline phosphatase of hepatic origin Diplopia Sinusitis Palmar telangiectasia Abnormal biliary tract morphology Respiratory distress Hoarse voice Conjunctivitis Chronic hepatic failure Abnormality of metabolism/homeostasis Hyperreflexia Concave nasal ridge Raynaud phenomenon Thrombophlebitis Oral ulcer Alopecia areata Stomatitis Recurrent aphthous stomatitis Arterial thrombosis Abnormal myocardium morphology Pustule Immunologic hypersensitivity Aseptic necrosis Pulmonary embolism Keratoconjunctivitis sicca Blurred vision Epiphora Acne Encephalitis Erythema nodosum Chorioretinitis Aortic regurgitation Epididymitis Diabetic ketoacidosis Ketoacidosis Ketosis Hyperglycemia Type II diabetes mellitus Hypopyon Decreased level of D-mannose in urine Genital ulcers Optic neuritis Panuveitis Superficial thrombophlebitis Retrobulbar optic neuritis Iritis Iridocyclitis Posterior uveitis Anterior uveitis Increased intracranial pressure Anorexia Abnormality of the nose Subglottic stenosis Scleritis Arteritis Episcleritis Abnormal oral cavity morphology Ureteral stenosis Neuritis Granulomatosis Ocular pain Prostatitis Rhinorrhea Periorbital edema Elevated C-reactive protein level Inflammatory abnormality of the eye Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Recurrent intrapulmonary hemorrhage Ataxia Mitral regurgitation Joint stiffness Hemiparesis Abnormal blistering of the skin Memory impairment Migraine Vertigo Confusion Abnormal pyramidal sign Irritability Cataract Developmental regression Photophobia Reduced visual acuity Glaucoma Alopecia Behavioral abnormality Blindness Gait disturbance Hepatocellular carcinoma Polyphagia Thyroiditis Stiff neck Serositis Azotemia Renal amyloidosis Gastrointestinal infarctions Erysipelas Congenital hypoplastic anemia Synovitis Short stature Decreased circulating aldosterone level Peritonitis Anemia of inadequate production Oral leukoplakia Edema of the lower limbs Antinuclear antibody positivity Recurrent meningitis Generalized hypotonia Episodic fever Sparse hair Brain atrophy Abnormal bleeding Postural instability Recurrent fractures Coma Metabolic acidosis Delayed skeletal maturation Failure to thrive Thrombocytopenia Vomiting Intellectual disability, severe Skeletal muscle atrophy Feeding difficulties Muscular hypotonia Muscle weakness Gout Hyperkalemia Aciduria Hyperparathyroidism Neoplasm of the endocrine system Hypomagnesemia Renal tubular dysfunction Episodic abdominal pain Lipoma Osteomalacia Multiple lipomas Parathyroid adenoma Hypercalcemia Hypercalciuria Acute lymphoblastic leukemia Abnormality of blood and blood-forming tissues Bone marrow hypocellularity Pancytopenia Leukemia Chondrocalcinosis Primary hyperparathyroidism Leukocytosis Hypomagnesiuria Chronic kidney disease Osteoarthritis Nephrotic syndrome Asthma Abnormality of the kidney Reduced ratio of renal calcium clearance to creatinine clearance Parathormone-independent increased renal tubular calcium reabsorption Peptic ulcer Renal hypophosphatemia Hypermagnesemia Vascular calcification Infantile hypercalcemia Hypocalciuria Hypocalcemic seizures Parathyroid hyperplasia Increased serum lactate Fine hair Celiac disease Long foot Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Oligomenorrhea Decreased serum leptin Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy High pitched voice Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Congenital generalized lipodystrophy Prominent umbilicus Hyperinsulinemia Hepatitis Abnormality of the thyroid gland Generalized amyotrophy Portal hypertension Hypoalbuminemia Hepatic fibrosis Cholestasis Pruritus Insulin-resistant diabetes mellitus at puberty Abnormality of the liver Encephalopathy Depressivity Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Lipodystrophy Polycystic ovaries Aminoaciduria Hyperlysinuria Ornithinuria Protein avoidance Pulmonary hemorrhage Oroticaciduria Alveolar proteinosis Psychotic episodes Micronodular cirrhosis Asterixis Hemophagocytosis Truncal obesity Malnutrition Abnormality of the coagulation cascade Hyperextensible skin Hyperammonemia Cutis laxa Argininuria Intellectual disability, mild Hyperlipidemia Epidermal acanthosis Acanthosis nigricans Accelerated skeletal maturation Tall stature Abnormality of the genital system Hypertrichosis Hypertriglyceridemia Triangular face Hernia Hepatic steatosis Hirsutism Hypertrophic cardiomyopathy Umbilical hernia Macrotia Mandibular prognathia Hyperhidrosis Beta-cell dysfunction


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