Autoimmunity, and Neoplasm of the pancreas

Diseases related with Autoimmunity and Neoplasm of the pancreas

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


Top matches:

Low match MULTIPLE ENDOCRINE NEOPLASIA TYPE 4


Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4

Related symptoms:

  • Neoplasm
  • Hypertension
  • Diarrhea
  • Diabetes mellitus
  • Hypothyroidism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4

Low match PANCREATIC CANCER, SUSCEPTIBILITY TO, 2


PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 Is also known as pnca2

Related symptoms:

  • Neoplasm of the pancreas


SOURCES: OMIM MENDELIAN

More info about PANCREATIC CANCER, SUSCEPTIBILITY TO, 2

Low match THIOPURINES, POOR METABOLISM OF, 1; THPM1


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

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Other less relevant matches:

Low match DIABETES MELLITUS, KETOSIS-PRONE; KPD


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

Low match DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM


The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM Is also known as diabetes mellitus, type i|jod|juvenile-onset diabetes

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Autoimmunity
  • Nephropathy
  • Type II diabetes mellitus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM

Low match HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I; HHC1


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

Low match IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME


Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections.

IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME Is also known as enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy|ipex|autoimmune enteropathy type 1|iddm-secretory diarrhea syndrome|x-linked autoimmunity-allergic dysregulation syndrome|polyendocrinopathy, immune dysfunction, and diarrhea, x-linked|

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about IMMUNE DYSREGULATION-POLYENDOCRINOPATHY-ENTEROPATHY-X-LINKED SYNDROME

Low match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Neoplasm of the pancreas

Symptoms // Phenotype % cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Hyperglycemia Uncommon - Between 30% and 50% cases
Insulin resistance Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Renal tubular dysfunction Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Intrauterine growth retardation Type II diabetes mellitus Ketoacidosis Polyuria Polydipsia Type I diabetes mellitus

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Generalized tonic-clonic seizures Downturned corners of mouth Arthrogryposis multiplex congenita Muscular hypotonia Coma Generalized myoclonic seizures Motor delay Neoplasm Hearing impairment Global developmental delay Pancreatic hypoplasia Pancreatitis Apraxia Ketosis Beta-cell dysfunction Hypertension Dehydration Intellectual disability Bilateral ptosis Abnormality of the upper urinary tract Diarrhea Hypothyroidism Hypercalcemia Hyperparathyroidism Thyroiditis Neurodevelopmental delay Contractures of the joints of the lower limbs Hypovolemia Neoplasm of the endocrine system Episodic abdominal pain Parathyroid adenoma Primary hyperparathyroidism Glycosuria Prominent metopic ridge Ketonuria Peptic ulcer Parathyroid hyperplasia Autoimmune antibody positivity Microalbuminuria Thrombocytopenia Nephrotic syndrome Hepatitis Eczema Sepsis Hemolytic anemia Lymphadenopathy Arthritis Transient neonatal diabetes mellitus Recurrent infections Cardiac arrest Immunodeficiency Abnormality of the pancreatic islet cells Anemia Intellectual disability, severe Growth delay Reduced ratio of renal calcium clearance to creatinine clearance Hypomagnesiuria Parathormone-independent increased renal tubular calcium reabsorption Inflammatory abnormality of the skin Abnormal intestine morphology Ileus Erythroderma Immune dysregulation Intractable diarrhea Villous atrophy Autoimmune hemolytic anemia Abnormality of the thyroid gland Neonatal insulin-dependent diabetes mellitus Malnutrition Abnormality of the coagulation cascade Nephritis Maternal diabetes Retinopathy Secretory diarrhea Reduced pancreatic beta cells Seizures Steatorrhea Hypermagnesemia Peripheral axonal neuropathy Ataxia Eosinophilia Renal hypophosphatemia Nephrolithiasis Vascular calcification Pituitary prolactin cell adenoma Angiofibromas Pituitary null cell adenoma Renal angiomyolipoma Parathyroid carcinoma Pituitary corticotropic cell adenoma Pituitary growth hormone cell adenoma Increased urinary cortisol level Zollinger-Ellison syndrome Thyroid adenoma Neuroendocrine neoplasm Fasting hyperinsulinemia Subcutaneous lipoma Extrahepatic cholestasis Testicular neoplasm Papillary thyroid carcinoma Pulmonary carcinoid tumor Esophagitis Carcinoma Erythema Abnormality of the urinary system Growth hormone excess Hashimoto thyroiditis Increased circulating cortisol level Pituitary adenoma Thymoma Hyperinsulinemic hypoglycemia Abnormality of the endocrine system Elevated circulating parathyroid hormone level Thyroid carcinoma Carcinoid tumor Adrenocortical adenoma Insulinoma Increased glucagon level Infantile hypercalcemia Hypercalciuria Headache Constipation Abdominal pain Nausea and vomiting Nephrocalcinosis Cholelithiasis Multiple lipomas Fatigue Osteomalacia Lipoma Hypomagnesemia Chondrocalcinosis Hypocalcemic seizures Hypocalciuria Renal insufficiency Pain Cervix cancer Bone marrow hypocellularity Confetti-like hypopigmented macules Abnormality of pancreas physiology Abnormality of metabolism/homeostasis Leukemia Pancytopenia Leukopenia Decreased level of 1,5 anhydroglucitol in serum Glomerulonephritis Abnormality of blood and blood-forming tissues Acute lymphoblastic leukemia Diabetic ketoacidosis Nephropathy Polyphagia Elevated hemoglobin A1c



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