Cryptorchidism, and Colon cancer

Diseases related with Cryptorchidism and Colon cancer

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


Top matches:

High 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

High match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Medium match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

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Other less relevant matches:

Low match MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME


Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder (megacystis), microcolon and decreased or absent intestinal peristalsis.

MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME Is also known as mmihs|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome|berdon syndrome

Related symptoms:

  • Cryptorchidism
  • Abnormality of cardiovascular system morphology
  • Polyhydramnios
  • Umbilical hernia
  • Nausea and vomiting


SOURCES: ORPHANET MENDELIAN

More info about MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME

Low 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

Low 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

Low match NTHL1-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS


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

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

Low match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

Low 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Neoplasm of the pancreas Uncommon - Between 30% and 50% cases
Prostate cancer Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Stomach cancer Breast carcinoma Leukemia

Rare Symptoms - Less than 30% cases


Stroke Congestive heart failure Hodgkin lymphoma Umbilical hernia Anal atresia Adrenocortical carcinoma Hydronephrosis Bladder neoplasm Cystic renal dysplasia Ovarian neoplasm Nevus Duodenal adenocarcinoma Lymphoma Adenocarcinoma of the colon Anemia Hydroureter Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Sarcoma Testicular neoplasm Vestibular Schwannoma Bilateral cryptorchidism External genital hypoplasia Absent thumb Abnormality of the gastrointestinal tract Chromosome breakage Rectal atresia Multicystic kidney dysplasia Bone marrow hypocellularity Omphalocele Depressed nasal bridge Intestinal malrotation Ventricular septal defect Atrial septal defect Hypoplasia of the radius Stage 5 chronic kidney disease Short thumb Meningioma Ovarian carcinoma Endometrial carcinoma Chronic atrophic gastritis Renal neoplasm Squamous cell carcinoma Short nose Neoplasm of the heart Bladder carcinoma Renal cyst Hypoperistalsis Megacystis Short stature Renal insufficiency Abnormal heart morphology Microcolon Gastritis Basal cell carcinoma Hypoplasia of penis Hypospadias Acute leukemia Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Urethral atresia, male Urethral fistula Melanoma Nephroblastoma Acute lymphoblastic leukemia Neoplasm of the lung Progressive encephalopathy Osteosarcoma Fetal pyelectasis Brain neoplasm Medulloblastoma Rhabdomyosarcoma Soft tissue sarcoma Lung adenocarcinoma Neoplasm of the nervous system Monoclonal immunoglobulin M proteinemia Plethora Impaired lymphocyte transformation with phytohemagglutinin Neoplasm of the colon Neoplasm of the adrenal cortex Rectal fistula Unilateral renal hypoplasia Posteriorly rotated ears Bilateral talipes equinovarus Micropenis Pulmonary hypoplasia Abdominal distention Ambiguous genitalia Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bifid scrotum Tracheoesophageal fistula Decreased fertility Bilateral lung agenesis Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Perineal hypospadias Ambiguous genitalia, male Urogenital sinus anomaly Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Sepsis Peripheral Schwannoma Nausea and vomiting Hypokalemia Jaundice Cough Vertigo Chest pain Gastrointestinal hemorrhage Cyanosis Epistaxis Telangiectasia Diplopia Hypoalbuminemia Abdominal pain Portal hypertension Clubbing Hamartoma Polycythemia Hemoptysis Hematochezia Clubbing of fingers Intestinal polyposis Rectal prolapse Hamartomatous polyposis Dyspnea Hernia Melena Neuroma Hydrocephalus Infertility Azoospermia Male infertility Gonadal dysgenesis Pheochromocytoma Retinoblastoma Teratoma Testicular dysgenesis Dysgerminoma Choriocarcinoma Headache Testicular microlithiasis Testicular teratoma Seizures Failure to thrive Pain Hypertension Macrocephaly Fatigue Respiratory distress Diarrhea Hematemesis Intussusception Polyhydramnios Histiocytoma Abnormal prolactin level Pituitary growth hormone cell adenoma Adrenal pheochromocytoma Increased urinary cortisol level Fibroadenoma of the breast Nodular goiter Hypertension associated with pheochromocytoma Uterine neoplasm Bronchogenic cyst Cardiac myxoma Osteochondroma Pigmented micronodular adrenocortical disease Hepatocellular adenoma Blue nevus Profuse pigmented skin lesions Abnormal pigmentation of the oral mucosa Pigmentation of the sclera Sertoli cell neoplasm Thyroid follicular hyperplasia Abnormality of circulating adrenocorticotropin level Intra-oral hyperpigmentation Recurrent paroxysmal headache Pancreatic adenocarcinoma Multiple gastric polyps Pituitary adenoma Hepatic vascular malformations Hirsutism Sudden cardiac death Subcutaneous nodule Cafe-au-lait spot Polycystic ovaries Hypermelanotic macule Growth hormone excess Increased circulating cortisol level Prolactin excess Neoplasm of the endocrine system Thyroid adenoma Thyroid carcinoma Parathyroid adenoma Ovarian cyst Hypoplasia of the musculature Red hair Schwannoma Multiple lentigines Enlarged polycystic ovaries Neoplasm of the breast Pituitary prolactin cell adenoma Prostate neoplasm



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