Carcinoma, and Lymphadenopathy

Diseases related with Carcinoma and Lymphadenopathy

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


Top matches:

High match THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC


Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1|fmtc

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

High match ESOPHAGEAL CANCER


Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Related symptoms:

  • Neoplasm
  • Dysphagia
  • Obesity
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESOPHAGEAL CANCER

High match IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2


IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

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Other less relevant matches:

High match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

High match GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX


Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). Genetic Heterogeneity of Chronic Granulomatous DiseaseChronic granulomatous disease can be caused by mutations in any 1 of 5 genes encoding structural or regulatory subunits of the phagocyte NADPH oxidase complex. See also autosomal recessive cytochrome b-negative CGD (OMIM ), caused by mutation in the CYBA gene (OMIM ); autosomal recessive cytochrome b-positive CGD type I (OMIM ), caused by mutation in the NCF1 gene (OMIM ); autosomal recessive cytochrome b-positive CGD II (OMIM ), caused by mutation in the NCF2 gene (OMIM ); and autosomal recessive cytochrome b-positive CGD type III (OMIM ), caused by mutation in the NCF4 gene (OMIM ).A similar syndrome, termed neutrophil immunodeficiency syndrome (OMIM ), is caused by mutation in another protein involved in the NADPH oxidase complex, RAC2 (OMIM ).

GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX Is also known as cytochrome b-negative granulomatous disease, chronic, x-linked|cgd|chronic granulomatous disease, x-linked

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, X-LINKED; CDGX

High match RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2


Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014).See also RTPS1 (OMIM ), which is caused by mutation in the SMARCB1 gene (OMIM ) on chromosome 22q11.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 2; RTPS2

High match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Medium match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

Medium match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2


Related symptoms:

  • Short stature
  • Neoplasm
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2; PFIC2

Medium match HEPATITIS B VIRUS, SUSCEPTIBILITY TO


HBV is a DNA virus that enters the liver via the bloodstream, and replication occurs only in liver tissue. Transmission occurs by percutaneous or mucosal exposure to infected blood or other body fluids. Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma (HCC ) can be attributed to chronic HBV infection. Worldwide, 2 billion people have been infected with HBV, 360 million have chronic infection, and 600,000 die each year from HBV-related liver disease or HCC. However, there is marked geographic variability in HBV prevalence, with chronic infection affecting less than 2% of the populations of North America and western and northern Europe; between 2 and 7% of the populations of eastern and central Europe, the Amazon basin, the Middle East, and the Indian subcontinent; and more than 8% of the populations of Asia, sub-Saharan Africa, and the Pacific (Seeff and Hoofnagle, 2006; Shepard et al., 2006).

HEPATITIS B VIRUS, SUSCEPTIBILITY TO Is also known as hbv, susceptibility to

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Vomiting
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about HEPATITIS B VIRUS, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Carcinoma and Lymphadenopathy

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Lymphadenopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatocellular carcinoma Fever Weight loss Immunodeficiency Recurrent infections Autoimmunity Follicular hyperplasia Anemia Diarrhea Hepatitis Lymphoma Glomerulonephritis

Rare Symptoms - Less than 30% cases


Decreased antibody level in blood Increased IgM level Failure to thrive Abnormality of the liver Sepsis Hepatosplenomegaly Otitis media Hemolytic anemia Increased antibody level in blood Recurrent bacterial infections IgA deficiency IgG deficiency IgM deficiency Recurrent otitis media Recurrent pneumonia Thyroiditis Teratoma Abdominal pain Sarcoma Squamous cell carcinoma Hypertension Follicular thyroid carcinoma Thyroid carcinoma Cirrhosis Respiratory distress Growth hormone excess Neurofibromas Macule Freckling Hypermelanotic macule Striae distensae Oculomotor nerve palsy Papule Bipolar affective disorder Neoplasm of the liver Heart murmur Poor appetite Increased circulating cortisol level Blue irides Macroorchidism Pituitary adenoma Generalized hypopigmentation Pheochromocytoma Paraganglioma Schwannoma Red hair Renal neoplasm Ischemic stroke Precocious puberty Nevus Abnormality of the eye Myalgia Proximal muscle weakness Dyspnea Osteoporosis Congestive heart failure Confusion Hirsutism Fibroma Fatigue Abnormality of the skin Neoplasm of the central nervous system Muscle weakness Internal hemorrhage Palpitations Tall stature Cafe-au-lait spot Gynecomastia Embryonal neoplasm Increased body weight Hemangioma Stroke Multiple lentigines Clumsiness Pituitary prolactin cell adenoma Intrahepatic cholestasis Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Short stature Pruritus Coma Cholestasis Elevated alkaline phosphatase Conjugated hyperbilirubinemia Decreased T cell activation Fat malabsorption Intermittent jaundice Giant cell hepatitis Vomiting Jaundice Nausea Membranoproliferative glomerulonephritis Dark urine Chronic infection Membranous nephropathy Acute hepatitis Impaired Ig class switch recombination Cholangiocarcinoma Testicular neoplasm Neutropenia Uterine leiomyoma Cardiac myxoma Profuse pigmented skin lesions Thyroid follicular hyperplasia Myxoid subcutaneous tumors Cutaneous myxoma Seizures Global developmental delay Cognitive impairment Dysarthria Neurodegeneration Choreoathetosis Sclerosing cholangitis Nephroblastoma Involuntary movements Chronic diarrhea Leukoencephalopathy Encephalitis Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis Chronic hepatitis Dysgammaglobulinemia Ovarian neoplasm Recurrent Serratia marcescens infections Hypercalcemia Petechiae Recurrent sinopulmonary infections Impaired T cell function Gastrointestinal carcinoma Edema Renal insufficiency Leukemia Vasculitis Purpura Eosinophilia Urticaria Basal cell carcinoma Recurrent sinusitis Autoimmune hemolytic anemia Iron deficiency anemia Hodgkin lymphoma Autoimmune thrombocytopenia Uveitis Antinuclear antibody positivity Multiple myeloma Generalized edema Chronic lymphatic leukemia Extramedullary hematopoiesis Lymphocytosis Recurrent bronchitis Conjunctivitis Increased IgA level Gastroesophageal reflux Hypothyroidism Aganglionic megacolon Hoarse voice Goiter Amyloidosis Neoplasm of the endocrine system Papillary thyroid carcinoma Medullary thyroid carcinoma Cutaneous amyloidosis Dysphagia Obesity Cough Meningitis Chest pain Abnormal intestine morphology Abnormality of the voice Hemoptysis Abnormality of the neck Retinoblastoma Barrett esophagus Recurrent singultus Esophageal neoplasm Increased body mass index Bronchiectasis Chronic noninfectious lymphadenopathy Antiphospholipid antibody positivity Hemiplegia Absence of bactericidal oxidative respiratory burst in phagocytes Chorioretinitis Liver abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Decreased activity of NADPH oxidase Recurrent Aspergillus infections Recurrent Klebsiella infections Bladder carcinoma Recurrent E. coli infections Negative nitroblue tetrazolium reduction test Recurrent bacterial skin infections Recurrent Burkholderia cepacia infections Deficiency or absence of cytochrome b(-245) Respiratory insufficiency Hydrocephalus Headache Irritability Nausea and vomiting Hematuria Subcutaneous nodule Cranial nerve paralysis Cerebral palsy Rectal abscess Eczematoid dermatitis Autoimmune neutropenia Intermediate uveitis Reduced delayed hypersensitivity Increased IgG level Cervical lymphadenopathy Rheumatoid factor positive Coombs-positive hemolytic anemia Platelet antibody positive Decreased lymphocyte apoptosis Antineutrophil antibody positivity Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Pneumonia Granulomatosis Muscular dystrophy Inflammatory abnormality of the skin Aspiration Recurrent skin infections Intestinal obstruction Osteomyelitis Pulmonary fibrosis Colitis Cellulitis Pulmonary infiltrates Peritonitis Fulminant hepatitis



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