Melanoma, and Hodgkin lymphoma

Diseases related with Melanoma and Hodgkin lymphoma

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

Top matches:

Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.

HYPERPLASTIC POLYPOSIS SYNDROME Is also known as serrated polyposis

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about HYPERPLASTIC POLYPOSIS SYNDROME

High match OVARIAN CANCER

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

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

Other less relevant matches:

Medium match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney

Related symptoms:

  • Neoplasm
  • Hypertension
  • Obesity
  • Carcinoma
  • Falls


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC

Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Lymphoma
  • Breast carcinoma
  • Colon cancer


SOURCES: MESH OMIM MENDELIAN

More info about COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5

Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM ).

NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as nthl1-related attenuated fap|nthl1-related afap

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nevus
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

PLEUROPULMONARY BLASTOMA; PPB Is also known as ppb familial tumor and dysplasia syndrome|ppbftds

Related symptoms:

  • Neoplasm
  • Atrial septal defect
  • Patent ductus arteriosus
  • Leukemia
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEUROPULMONARY BLASTOMA; PPB

Top 5 symptoms//phenotypes associated to Melanoma and Hodgkin lymphoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Lymphoma Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Breast carcinoma Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Melanoma and Hodgkin lymphoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ovarian carcinoma Ovarian neoplasm Nephroblastoma Neoplasm of the pancreas Neoplasm of the skin

Rare Symptoms - Less than 30% cases

Medulloblastoma Atrial septal defect Goiter Rhabdomyosarcoma Colon cancer Stomach cancer Lymphopenia Squamous cell carcinoma Overgrowth Endometrial carcinoma Immunodeficiency Sarcoma Papilloma Prostate cancer Anemia Meningioma Renal cell carcinoma Pain Acute myeloid leukemia Nausea and vomiting Follicular thyroid carcinoma Prolactin excess Colorectal polyposis Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Thyroid adenoma Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Varicocele Cellular immunodeficiency Skin tags Arteriovenous malformation Intestinal polyposis Ovarian cyst Astrocytoma Long penis Cavernous hemangioma Abnormality of the uterus Enlarged polycystic ovaries Furrowed tongue Hamartomatous polyposis Hydrocele testis Intestinal polyp Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Megalencephaly Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Bone cyst Angioid streaks of the fundus Acute monocytic leukemia Arthritis Bronchiolitis Bladder carcinoma Duodenal adenocarcinoma Pneumonia Hemolytic anemia Otitis media Inflammatory abnormality of the skin Recurrent otitis media Sinusitis Psoriasiform dermatitis Autoimmune hemolytic anemia Recurrent sinusitis Bronchiolitis obliterans Basal cell carcinoma Opportunistic infection Bronchiolitis obliterans organizing pneumonia Patent ductus arteriosus Transposition of the great arteries Histiocytosis Multinodular goiter Embryonal rhabdomyosarcoma Pulmonary sequestration Pleuropulmonary blastoma Bicuspid pulmonary valve Primitive neuroectodermal tumor Medulloepithelioma Bladder neoplasm Nevus Asthma Hypertension Eczema Bone marrow hypocellularity Leukopenia Systemic lupus erythematosus Myelodysplasia Myeloid leukemia Immune dysregulation Abnormality of the vasculature Refractory anemia Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia Obesity Hereditary nonpolyposis colorectal carcinoma Falls Renal cyst Polycythemia Renal neoplasm Retinoblastoma Papillary renal cell carcinoma Fibrosarcoma Burkitt lymphoma Clear cell renal cell carcinoma Small cell lung carcinoma Cerebellar hemangioblastoma Hemangioblastoma Papilledema Macule Lipoma Ataxia Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the colon Neoplasm of the adrenal cortex Prostate neoplasm Intellectual disability Seizures Global developmental delay Short stature Generalized hypotonia Hearing impairment Scoliosis Hypertelorism Monoclonal immunoglobulin M proteinemia Failure to thrive Micrognathia Muscle weakness Cataract Low-set ears Cognitive impairment High palate Delayed speech and language development Motor delay Brachydactyly Myopia Plethora Neoplasm of the nervous system Macrocephaly Increased body weight Fatigue Respiratory distress Vomiting Abnormality of metabolism/homeostasis Constipation Abdominal pain Weight loss Gastroesophageal reflux Nausea Ascites Abdominal distention Back pain Lung adenocarcinoma Dysgerminoma Non-Hodgkin lymphoma Ovarian papillary adenocarcinoma Acute lymphoblastic leukemia Neoplasm of the lung Progressive encephalopathy Acute leukemia Osteosarcoma Brain neoplasm Soft tissue sarcoma Adrenocortical carcinoma Skeletal muscle atrophy Downslanted palpebral fissures Scaphocephaly Intracranial hemorrhage Exotropia Cafe-au-lait spot Gynecomastia Cranial nerve paralysis Drooling Hemangioma Increased intracranial pressure Hypopigmented skin patches Palmoplantar hyperkeratosis Incoordination Dysdiadochokinesis Hand polydactyly Telangiectasia Melanocytic nevus Cutis marmorata Abnormality of the thyroid gland Multiple lipomas Cystic hygroma Cellulitis Multiple cafe-au-lait spots Hamartoma Hyperthyroidism Thyroiditis Hashimoto thyroiditis Chronic diarrhea Subcutaneous nodule Tremor Narrow mouth Frontal bossing Hydrocephalus Myopathy Diarrhea Intellectual disability, mild Kyphosis Headache Dilatation Recurrent infections Pectus excavatum Autism Hypothyroidism Broad thumb Proximal muscle weakness Intellectual disability, moderate Abnormality of the kidney Papule Joint hypermobility Polymicrogyria Palmoplantar keratoderma Hypoplasia of the maxilla Abnormal cerebellum morphology Macroglossia Decreased antibody level in blood Intention tremor Ewing sarcoma


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