Melanoma, and Pheochromocytoma

Diseases related with Melanoma and Pheochromocytoma

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


Top matches:

Low match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Low match MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME


Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma; see this term).

MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME Is also known as melanoma-astrocytoma syndrome|melanoma and neural system tumor syndrome

Related symptoms:

  • Neoplasm
  • Nevus
  • Melanoma
  • Melanocytic nevus
  • Meningioma


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME

Low match GLIOMA SUSCEPTIBILITY 9; GLM9


Related symptoms:

  • Neoplasm
  • Leukemia
  • Melanoma
  • Neoplasm of the lung
  • Renal neoplasm


SOURCES: OMIM MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 9; GLM9

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Other less relevant matches:

Low match GLIOMA SUSCEPTIBILITY 1; GLM1


Gliomas are central nervous system neoplasms derived from glial cells and comprise astrocytomas, glioblastoma multiforme, oligodendrogliomas, ependymomas, and subependymomas. Glial cells can show various degrees of differentiation even within the same tumor (summary by Kyritsis et al., 2010).Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003).Subependymomas are unusual tumors believed to arise from the bipotential subependymal cell, which normally differentiates into either ependymal cells or astrocytes. They were characterized as a distinct entity by Scheinker (1945). They tend to be slow-growing, noninvasive, and located in the ventricular system, septum pellucidum, cerebral aqueduct, or proximal spinal cord (summary by Ryken et al., 1994).Gliomas are known to occur in association with several other well-defined hereditary tumor syndromes such as mismatch repair cancer syndrome (OMIM ), melanoma-astrocytoma syndrome (OMIM ), neurofibromatosis-1 (NF1 ) and NF2 (OMIM ), and tuberous sclerosis (TSC1 ). Familial clustering of gliomas may occur in the absence of these tumor syndromes, however. Genetic Heterogeneity of Susceptibility to GliomaOther glioma susceptibilities include GLM2 (OMIM ), caused by variation in the PTEN gene (OMIM ) on chromosome 10q23; GLM3 (OMIM ), caused by variation in the BRCA2 gene (OMIM ) on chromosome 13q12; GLM4 (OMIM ), mapped to chromosome 15q23-q26.3; GLM5 (OMIM ), mapped to chromosome 9p21; GLM6 (OMIM ), mapped to chromosome 20q13; GLM7 (OMIM ), mapped to chromosome 8q24; GLM8 (OMIM ), mapped to chromosome 5p15; and GLM9, caused by variation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutation, disruption, or copy number variation of the following genes or loci may also contribute to the formation of glioma: ERBB (EGFR ), ERBB2 (OMIM ), LGI1 (OMIM ), GAS41 (OMIM ), GLI (OMIM ), DMBT1 (OMIM ), IDH1 (OMIM ), IDH2 (OMIM ), BRAF (OMIM ), PARK2 (OMIM ), TP53 (OMIM ), RB1 (OMIM ), PIK3CA (OMIM ), 10p15, 19q, and 17p13.3.

Related symptoms:

  • Neoplasm
  • Hydrocephalus
  • Polyhydramnios
  • Melanoma
  • Growth abnormality


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLIOMA SUSCEPTIBILITY 1; GLM1

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A


Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

Low match HYPERPLASTIC POLYPOSIS SYNDROME


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

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 PARAGANGLIOMAS 4; PGL4


PARAGANGLIOMAS 4; PGL4 Is also known as paraganglioma, familial malignant|pheochromocytoma, extraadrenal, and cervical paraganglioma|carotid body tumors and multiple extraadrenal pheochromocytomas|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 4; PGL4

Low match TESTICULAR TERATOMA


Testicular germ cell tumors (TGCTs) affect 1 in 500 men and are the most common cancer in males aged 15 to 40 in western European populations. The incidence of TGCT rose dramatically during the 20th century. Known risk factors for TGCT include a history of undescended testis (UDT), testicular dysgenesis, infertility, previously diagnosed TGCT, and a family history of the disease. Brothers of men with TGCT have an 8- to 10-fold risk of developing TGCT, whereas the relative risk to fathers and sons is 4-fold. This familial relative risk is much higher than that for most other types of cancer (summary by Rapley et al., 2000). Genetic Heterogeneity of Testicular Germ Cell TumorsA locus for testicular germ cell tumors (TGCT1 ) has been identified on chromosome Xq27.

TESTICULAR TERATOMA Is also known as male germ cell tumor|mgct|teratoma of the testis

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus
  • Abnormality of metabolism/homeostasis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about TESTICULAR TERATOMA

Top 5 symptoms//phenotypes associated to Melanoma and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Astrocytoma Uncommon - Between 30% and 50% cases
Glioma Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Brain neoplasm

Rare Symptoms - Less than 30% cases


Increased circulating cortisol level Thyroid carcinoma Medulloblastoma Glioblastoma multiforme Schwannoma Adrenocortical adenoma Tachycardia Paraganglioma Gastrointestinal stroma tumor Ependymoma Neoplasm of the lung Neurofibromas Headache Infertility Leukemia Hydrocephalus Colon cancer Gastrointestinal hemorrhage Adrenal overactivity Elevated calcitonin Leiomyosarcoma Mediastinal lymphadenopathy Elevated urinary epinephrine Pulmonary infiltrates Anorexia Abnormality of the integument Ascites Arrhythmia Lymphadenopathy Abdominal pain Anemia Fatigue Nausea and vomiting Diarrhea Congestive heart failure Pain Intellectual disability Hyperhidrosis Cryptorchidism Testicular microlithiasis Choriocarcinoma Neuroma Vestibular Schwannoma Dysgerminoma Testicular dysgenesis Testicular neoplasm Teratoma Retinoblastoma Gonadal dysgenesis Male infertility Azoospermia Abnormality of metabolism/homeostasis Elevated urinary catecholamines Anxiety Paraganglioma of head and neck Glomus jugular tumor Extraadrenal pheochromocytoma Chemodectoma Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Episodic paroxysmal anxiety Medullary thyroid carcinoma Recurrent paroxysmal headache Renal cell carcinoma Neuroblastoma Cranial nerve paralysis Palpitations Pulsatile tinnitus Growth abnormality Parathyroid hyperplasia Multiple lipomas Intestinal polyp Absent gallbladder Chondrosarcoma Thoracic kyphoscoliosis Keloids Hepatoblastoma Papillary thyroid carcinoma Epidermoid cyst Stomach cancer Intestinal polyposis Increased number of teeth Agenesis of permanent teeth Multiple impacted teeth Chorioretinal atrophy Intestinal obstruction Precocious puberty Sarcoma Hyperextensible skin Horseshoe kidney Hyperpigmentation of the skin Carious teeth Intellectual disability, moderate Kyphoscoliosis Abnormality of the dentition Adrenocortical carcinoma Colorectal polyposis Carcinoid tumor Melanocytic nevus Parathyroid adenoma Neoplasm of the endocrine system Upper limb undergrowth Hyperparathyroidism Aganglionic megacolon Choroid plexus papilloma Papilloma Polyhydramnios Renal neoplasm Cutaneous melanoma Meningioma Nevus Cholangiocarcinoma Congenital hypertrophy of retinal pigment epithelium Duodenal polyposis Desmoid tumors Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Multiple gastric polyps Abdominal mass Osteoma Fibroadenoma of the breast Testicular teratoma



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