Neuroblastoma 1 (NBLST1)

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Disease Ontology 12 DOID:769 OMIM 58 256700 KEGG 38 H00043 MeSH 45 D009447 NCIt 51 C3270 SNOMED-CT 69 87364003 MESH via Orphanet 46 C536408 D009447

ICD10 via Orphanet 35 C74.9 UMLS via Orphanet 75 C0027819 C2931189 Orphanet 60 ORPHA635 MedGen 43 C0027819 C2749484 C2749485 SNOMED-CT via HPO 70 116371000119107 116381000119105 12584003 126950007 12731000 127324008 128919000 161832001 165397008 17450006 192915005 194177006 21522001 24184005 262285001 263681008 267060006 271730003 271737000 36440009 38341003 386661006 432328008 432788009 50177009 53801007 62315008 69515008 71286001 85102008 89362005 95319004 more EFO 17 EFO_0000621 UMLS 74 C0027819

NIH Rare Diseases : ⁵⁴ Neuroblastoma is a tumor that develops from neuroblasts (immature nerve tissue) in an infant or child, usually before the age of 5. It most often develops in infancy and may be diagnosed in the first month of life. The tumor most often develops in the adrenal gland, but may develop in the neck, chest, or spinal cord. It is considered an aggressive tumor because it often spreads to other parts of the body (metastasizes). In most cases, it has spread by the time it is diagnosed. A neuroblastoma can cause a variety of signs and symptoms, including a lump where the tumor is growing, bone pain, diarrhea, and various neurological symptoms. The cause of most neuroblastomas is not known. Rarely, a neuroblastoma is caused by an inheritedmutation in a gene, such as the ALK gene or PHOX2B gene. Diagnosing a neuroblastoma may rely on a physical examination, blood tests, imaging tests (such as MRI or CT scan) and ultimately, a biopsy. Treatment depends on the size and location of the tumor within the body, as well as the child�??s age. Surgery is often the first step of treatment, and may be followed by chemotherapy, radiation therapy, or a stem cell transplant in more severe cases. In some children the tumor goes away without treatment. While the long-term outlook and chance of survival depends on many factors, the 5-year survival rate ranges from 40-50% in some, to over 95% in others. The child's doctor is in the best position to provide personalized information about the outlook in each case.

MalaCards based summary : Neuroblastoma 1, also known as neuroblastoma, is related to glioma and astrocytoma. An important gene associated with Neuroblastoma 1 is ALK (ALK Receptor Tyrosine Kinase), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include bone, adrenal gland and skin, and related phenotypes are neoplasm of the nervous system and elevated urinary catecholamines

Disease Ontology : ¹² An autonomic nervous system neoplasm that derives from immature nerve cells.

Genetics Home Reference : ²⁶ Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.

OMIM : ⁵⁸ Neuroblastoma is the most common childhood cancer diagnosed before the age of 1 year, and accounts for 10 to 15% of all cancer deaths in children. Some patients inherit a genetic predisposition to neuroblastoma due to germline mutations, whereas others develop sporadic disease that may result from either germline or somatic mutations. Neuroblastoma tumors are derived from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system (Roberts et al., 1998; Eng, 2008). Histopathologically, neuroblastoma can range in type from the most aggressive form, neuroblastoma, composed entirely of immature neural precursor cells, to ganglioneuroma, composed entirely of mature neural tissue. The most important prognostic factor for patients with neuroblastoma is the extent of the tumor at the time of diagnosis (Roberts et al., 1998). Neuroblastoma can also be part of cancer-prone syndromes, such as paragangliomas (see, e.g., PGL4; 115310). (256700)

MedlinePlus : ⁴⁴ Neuroblastoma is a cancer that forms in your nerve tissue. It usually begins in the adrenal glands, which sit atop your kidneys. It may also begin in your neck, chest or spinal cord. The cancer often begins in early childhood. Sometimes it begins before a child is born. By the time doctors find the cancer, it has usually spread to other parts of the body. The most common symptoms are A lump in the abdomen, neck or chest Bulging eyes Dark circles around the eyes Bone pain Swollen stomach and trouble breathing in babies Painless, bluish lumps under the skin in babies Inability to move a body part Treatments include surgery, radiation therapy, chemotherapy, biologic therapy, or a combination. Biologic therapy boosts your body's own ability to fight cancer. Sometimes before giving treatment, doctors wait to see whether symptoms get worse. This is called watchful waiting. NIH: National Cancer Institute

UniProtKB/Swiss-Prot : ⁷⁶ Neuroblastoma 1: A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.

Wikipedia : ⁷⁷ Neuroblastoma (NB) is a type of cancer that forms in certain types of nerve tissue. It most frequently... more...

Clinical features from OMIM:

256700

Search Clinical Trials , NIH Clinical Center for Neuroblastoma 1

Search GEO for disease gene expression data for Neuroblastoma 1.