Neuroblastoma, and Lymphadenopathy

Diseases related with Neuroblastoma and Lymphadenopathy

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


Top matches:

Medium match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low 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

Low match DESMOPLASTIC SMALL ROUND CELL TUMOR


Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

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Other less relevant matches:

Low 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

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Low match CARNEY TRIAD


Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Low match MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY


Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 subunit beta (IL12B) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guérin (BCG) infections and recurrent Salmonella infections.

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY Is also known as mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency|msmd due to complete interleukin 12b deficiency|msmd due to complete il12b deficiency|il12b deficiency

Related symptoms:

  • Immunodeficiency
  • Lymphadenopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO COMPLETE IL12B DEFICIENCY

Low match CARCINOID SYNDROME


A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.

CARCINOID SYNDROME Is also known as malignant carcinoid syndrome

Related symptoms:

  • Neoplasm
  • Myopathy
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Asthma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARCINOID SYNDROME

Low match NEUROENDOCRINE TUMOR OF STOMACH


Gastric neuroendocrine tumor is a rare subtype of neuroendocrine neoplasm, arising from enterochromaffin-like cells in the stomach, with a variable clinical presentation, disease course and prognosis, depending on the disease type and histological grade. Most patients are asymptomatic, with diagnosis usually occurring incidentally during gastroscopy, however, symptoms of dyspepsia, anemia, pain, weight loss and gastrointestinal bleeding can be observed. Association with Zollinger-Ellison syndrome and multiple endocrine neoplasia type I has been reported.

NEUROENDOCRINE TUMOR OF STOMACH Is also known as gnet|net of stomach|gastric net|gastric neuroendocrine tumor

Related symptoms:

  • Hepatomegaly
  • Weight loss
  • Elevated hepatic transaminase
  • Nausea and vomiting
  • Hepatic failure


SOURCES: ORPHANET MENDELIAN

More info about NEUROENDOCRINE TUMOR OF STOMACH

Top 5 symptoms//phenotypes associated to Neuroblastoma and Lymphadenopathy

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Nausea and vomiting Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Sarcoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Abdominal pain Paraganglioma Thrombocytopenia Headache Pain

Rare Symptoms - Less than 30% cases


Lack of bowel sounds Bronchospasm Carcinoma Facial telangiectasia Protracted diarrhea Abnormal intestine morphology Embryonal neoplasm Chronic noninfectious lymphadenopathy Right ventricular failure Carcinoid tumor Asthma Elevated hepatic transaminase Episodic abdominal pain Atypical pulmonary carcinoid tumor Neoplasm of the central nervous system Palpitations Mediastinal lymphadenopathy Ascites Tricuspid regurgitation Increased serum serotonin Night sweats Pancytopenia Fever Fatigue Recurrent infections Respiratory failure Diarrhea Hepatosplenomegaly Poor appetite Splenomegaly Immunodeficiency Ovarian neoplasm Anorexia Hypertension Nevus flammeus Abnormality of the outer ear Enlarged kidney Central hypotonia Syringomyelia Supernumerary nipple Neonatal hypoglycemia Large for gestational age Omphalocele Abnormality of the vasculature Psoriasiform dermatitis Abnormality of the face Seizures Overgrowth Ventricular septal defect IgM deficiency Gastritis Interstitial pneumonitis Generalized lymphadenopathy Follicular hyperplasia Burkitt lymphoma Strabismus Cleft palate Cryptorchidism Hypospadias Premature birth Patent ductus arteriosus Inguinal hernia Polydactyly Coarse facial features Umbilical hernia Hypoglycemia Abnormality of the kidney Apnea Renal cyst Macroglossia Skin tags Leiomyosarcoma Diastasis recti Iron deficiency anemia Hepatic necrosis Pulmonary carcinoid tumor Intestinal carcinoid Erythematous plaque Small intestine carcinoid Abnormal B-type natriuretic peptide level Hepatic failure Hypotension Increased circulating ACTH level Neoplasm of the endocrine system Hematemesis Intermittent diarrhea Melena Bloody diarrhea Cardiogenic shock Zollinger-Ellison syndrome Bowel urgency Abnormal pulmonary valve cusp morphology Rhinorrhea Epiphora Hemihypertrophy Arrhythmia Visceromegaly Abnormality of earlobe Tethered cord Abdominal wall defect Anterior creases of earlobe Prune belly Auricular pit Postauricular pit Tachycardia Heart murmur Gastrointestinal hemorrhage Pulmonary infiltrates Pheochromocytoma Adrenocortical adenoma Cor pulmonale Gastrointestinal stroma tumor Adrenal overactivity Myopathy Immune dysregulation Recurrent upper respiratory tract infections Verrucae Cachexia Hemoptysis Abnormality of the neck Retinoblastoma Barrett esophagus Recurrent singultus Esophageal neoplasm Increased body mass index Constipation Abdominal distention Neoplasm of the lung Abnormality of the voice Neoplasm of the pancreas Ileus Testicular neoplasm Abnormality of the peritoneum Abdominal mass Gastrointestinal obstruction Respiratory insufficiency Hydrocephalus Irritability Squamous cell carcinoma Chest pain Subcutaneous nodule Menorrhagia Respiratory distress Dyspnea Scarring Leukemia Confusion Bruising susceptibility Coma Leukopenia Myelodysplasia Petechiae Cough Myeloid leukemia Acute myeloid leukemia Gingival bleeding Ecchymosis Acute monocytic leukemia Chronic pain Acute promyelocytic leukemia Dysphagia Obesity Gastroesophageal reflux Hematuria Cranial nerve paralysis Brain neoplasm Interstitial pulmonary abnormality Abnormal lung morphology Bronchiectasis Chronic diarrhea Type I diabetes mellitus Conjunctivitis Purpura Clubbing Inflammation of the large intestine Combined immunodeficiency Colitis Inflammatory abnormality of the skin Autoimmune hemolytic anemia Recurrent sinusitis IgA deficiency Fatigable weakness Autoimmune thrombocytopenia Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Villous atrophy Recurrent otitis media Otitis media Cerebral palsy Failure to thrive Hemiplegia Hypercalcemia Nephroblastoma Renal neoplasm Neoplasm of the liver Oculomotor nerve palsy Teratoma Internal hemorrhage Growth delay Congestive heart failure Decreased antibody level in blood Pneumonia Recurrent respiratory infections Diabetes mellitus Hypothyroidism Arthritis Respiratory tract infection Autoimmunity Hemolytic anemia Neutropenia Lymphoma Dermatological manifestations of systemic disorders



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