Carcinoma, and Chronic myelogenous leukemia

Diseases related with Carcinoma and Chronic myelogenous leukemia

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


Top matches:

High match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

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 BLUE RUBBER BLEB NEVUS


Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLUE RUBBER BLEB NEVUS

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Other less relevant matches:

Medium match SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS


Sessile serrated polyposis cancer syndrome (SSPCS) is a rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. SSPCS is defined by the World Health Organization (WHO) as the presence of at least 5 sessile serrated polyps (also known as 'sessile serrated adenomas,' or SSAs) proximal to the sigmoid colon, with 2 or more that are greater than 10 mm in diameter; or any number of serrated polyps in a person with a first-degree relative with SSPCS; or more than 20 serrated polyps of any size, distributed throughout the colon. SSAs are found in 2% of average-risk individuals undergoing their first screening colonoscopy, and are estimated to be responsible for 20 to 35% of all colon cancers. SSAs exhibit somatic mutations in the BRAF gene (OMIM ), or less commonly in the KRAS gene (OMIM ), early in their development. Individuals with SSPCS have a lifetime risk of colon cancer as high as 54% and may have a strong personal or family history of extracolonic cancers; first-degree relatives have a 32% risk of developing multiple serrated polyps and a 5-fold increased risk of colon cancer. An increased risk of pancreatic cancer has also been observed (summary by Gala et al., 2014).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Breast carcinoma
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS

Medium match LUNG CANCER


Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about LUNG CANCER

Medium match LYNCH SYNDROME I


Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see {608089}), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series.Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient.The Muir-Torre syndrome (MRTES ) is a form of Lynch syndrome II associated with sebaceous skin tumors. Genetic Heterogeneity of HNPCCHNPCC is a genetically heterogeneous disease. See also HNPCC2 (OMIM ), caused by mutation in the MLH1 gene (OMIM ); HNPCC4 (OMIM ), caused by mutation in the PMS2 gene (OMIM ); HNPCC5 (OMIM ), caused by mutation in the MSH6 gene (OMIM ); HNPCC6 (OMIM ), caused by mutation in the TGFBR2 gene (OMIM ); HNPCC7 (OMIM ), caused by mutation in the MLH3 gene (OMIM ). HNPCC8 (OMIM ) results from epigenetic silencing of MSH2 caused by deletion of 3-prime exons of the EPCAM gene (OMIM ) and intergenic regions directly upstream of the MSH2 gene.Since defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.

LYNCH SYNDROME I Is also known as colorectal cancer, hereditary nonpolyposis, type 1|fcc1|hnpcc1|coca1|colon cancer, familial nonpolyposis, type 1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Neoplasm of the skin
  • Breast carcinoma


SOURCES: OMIM MENDELIAN

More info about LYNCH SYNDROME I

Medium match HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC


Hereditary leiomyomatosis and renal cell cancer is an autosomal dominant tumor predisposition syndrome characterized by the variable development of 3 tumors: cutaneous piloleiomyomata that develop in essentially all patients by age 40 years; leiomyomata (fibroids) of the uterus, and rarely leiomyosarcomas, at a mean age of 30 years (range, 18 to 52 years); and type 2 papillary renal cell carcinoma at a mean age of 46 years (range, 17 to 75 years), which occurs in about 20% of patients. Type 2 papillary renal cell carcinoma is a pathologic subtype characterized by large tumor cells with eosinophilic cytoplasm and pseudostratified nuclei; it shows an aggressive clinical course. Some patients with FH mutations may develop collecting duct renal cell carcinoma. The main focus of management in HLRCC is prevention of disease and death due to renal cancer (summary by Gardie et al., 2011; Smit et al., 2011; and Lehtonen, 2011).For a general discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ).

HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC Is also known as mcl|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|mcul1|lrcc|leiomyoma, multiple cutaneous|leiomyomatosis and renal cell cancer, hereditary

Related symptoms:

  • Neoplasm
  • Pain
  • Cataract
  • Carcinoma
  • Skin rash


SOURCES: MESH OMIM MENDELIAN

More info about HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HLRCC

Medium match MUIR-TORRE SYNDROME


Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma.

MUIR-TORRE SYNDROME Is also known as cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and other carcinomas|multiple keratoacanthoma, muir-torre type

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Nevus
  • Lymphoma


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUIR-TORRE SYNDROME

Medium match LI-FRAUMENI SYNDROME


Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

Medium match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Top 5 symptoms//phenotypes associated to Carcinoma and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Neoplasm Very Common - Between 80% and 100% cases
Breast carcinoma Common - Between 50% and 80% cases
Hodgkin lymphoma Uncommon - Between 30% and 50% cases
Lymphoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Colon cancer Renal neoplasm Basal cell carcinoma Neoplasm of the skin Sarcoma Medulloblastoma Neoplasm of the pancreas Prostate cancer Acute lymphoblastic leukemia Pain Nephroblastoma Anemia Chronic lymphatic leukemia

Rare Symptoms - Less than 30% cases


Adenocarcinoma of the colon Brain neoplasm Endometrial carcinoma Thrombocytopenia Hepatocellular carcinoma Lung adenocarcinoma Hepatitis Rhabdomyosarcoma Bladder neoplasm Stomach cancer Intestinal polyp Cafe-au-lait spot Intestinal polyposis Neoplasm of the lung Multiple cafe-au-lait spots Abnormality of the liver Vasculitis Skin rash Nevus Iron deficiency anemia Hypermelanotic macule Renal cell carcinoma Subcutaneous nodule Wheezing Hemoptysis Abnormality of coagulation Hemangioma Bone pain Small cell lung carcinoma Alveolar cell carcinoma Ovarian neoplasm Non-small cell lung carcinoma Gastrointestinal hemorrhage Gastritis Hyperhidrosis Growth delay Ovarian carcinoma Intermediate uveitis Chronic atrophic gastritis Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Squamous cell carcinoma Prolonged bleeding time Chest pain Cerebellar medulloblastoma Visceral angiomatosis Cavernous hemangioma Intestinal bleeding Volvulus Melena Venous malformation Arteriovenous malformation Intussusception Multiple enchondromatosis Abnormality of the respiratory system Rectal prolapse Chronic disseminated intravascular coagulation Abnormality of the mouth Abnormality of the vasculature Fatigue Respiratory distress Microcytic anemia Diarrhea Weight loss Pathologic fracture Cough Gastrointestinal infarctions Intellectual disability Cataract Sepsis Acute leukemia Osteosarcoma Soft tissue sarcoma Adrenocortical carcinoma Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Plethora Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the colon Neoplasm of the adrenal cortex Prostate neoplasm Agenesis of corpus callosum Neutropenia Hypopigmentation of the skin Heterotopia Melanoma Lisch nodules Gray matter heterotopias Axillary freckling Colorectal polyposis Glioblastoma multiforme Ependymoma Neoplasm of the central nervous system Glioma Neurofibromas Astrocytoma Pituitary adenoma Abnormality of abdomen morphology Neuroblastoma Freckling Multiple lipomas Progressive encephalopathy Benign genitourinary tract neoplasm Papule Gastrointestinal stroma tumor Cutaneous leiomyoma Uterine leiomyosarcoma Vaginal neoplasm Barrett esophagus Uterine leiomyoma Papillary renal cell carcinoma Leiomyosarcoma Papillary renal cell carcinoma type 2 Low back pain Abnormality of the musculature Antineutrophil antibody positivity Back pain Hematuria Pruritus Multiple cutaneous leiomyomas Decreased fumarate hydratase activity Malignant genitourinary tract tumor Neoplasm of the stomach Benign gastrointestinal tract tumors Salivary gland neoplasm Laryngeal carcinoma Keratoacanthoma Duodenal adenocarcinoma Sebaceous gland carcinoma Hematological neoplasm Cutaneous leiomyosarcoma Hereditary nonpolyposis colorectal carcinoma Colonic diverticula Adenoma sebaceum Chondrosarcoma Neoplasm of the liver Hyperlipidemia Smooth muscle antibody positivity Antiphospholipid antibody positivity Decreased lymphocyte apoptosis Sinusitis Distal amyotrophy Polyneuropathy Abnormal cerebellum morphology Progressive cerebellar ataxia Chorea Decreased antibody level in blood Apraxia Type II diabetes mellitus Pancytopenia Intention tremor Choreoathetosis Telangiectasia Bronchiectasis Limb ataxia Abnormal vertebral morphology Abnormality of movement Polycystic ovaries Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Spinal muscular atrophy Slurred speech Lymphopenia Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Unsteady gait Abnormality of eye movement Telangiectasia of the skin Tremor Short stature Microcephaly Scoliosis Ataxia Nystagmus Failure to thrive Strabismus Muscle weakness Spasticity Cognitive impairment Flexion contracture Peripheral neuropathy Dysarthria Skeletal muscle atrophy Gait disturbance Delayed puberty Gait ataxia Neurological speech impairment Distal muscle weakness Respiratory tract infection Anxiety Elevated hepatic transaminase Difficulty walking Diabetes mellitus Cerebellar atrophy Myoclonus Recurrent respiratory infections Pneumonia Recurrent infections Immunodeficiency Dystonia Aplasia/Hypoplasia of the skin Abnormality of the immune system Platelet antibody positive Uveitis Splenomegaly Renal insufficiency Hepatosplenomegaly Autoimmunity Lymphadenopathy Hemolytic anemia Purpura Eosinophilia Urticaria Glomerulonephritis Increased antibody level in blood Petechiae Autoimmune hemolytic anemia Autoimmune thrombocytopenia Antinuclear antibody positivity Hepatomegaly Increased IgM level Coombs-positive hemolytic anemia Rheumatoid factor positive Cervical lymphadenopathy Increased IgG level Reduced delayed hypersensitivity Autoimmune neutropenia Follicular hyperplasia Multiple myeloma Seizures Increased IgA level Chronic noninfectious lymphadenopathy Lymphocytosis Extramedullary hematopoiesis Generalized edema Edema Defective B cell differentiation Myeloid leukemia Abnormality of chromosome stability Prematurely aged appearance IgA deficiency Hypopigmentation of hair Severe combined immunodeficiency Recurrent lower respiratory tract infections Chromosome breakage Recurrent bronchitis B-cell lymphoma Abnormality of the testis Lymphoproliferative disorder Spinocerebellar tract degeneration Absent Achilles reflex Hypoplasia of the thymus Cellular immunodeficiency Conjunctival telangiectasia IgE deficiency Aplasia/Hypoplasia of the thymus Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Acute myelomonocytic leukemia



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