Brachydactyly, and Prostate cancer

Diseases related with Brachydactyly and Prostate cancer

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


Top matches:

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match FAMILIAL PROSTATE CANCER


Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents.

FAMILIAL PROSTATE CANCER Is also known as prca1

Related symptoms:

  • Neoplasm
  • Prostate cancer


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL PROSTATE CANCER

Low match PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY


PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY Is also known as pcbc|capb

Related symptoms:

  • Prostate cancer
  • Neoplasm of the central nervous system


SOURCES: OMIM MENDELIAN

More info about PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY

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Other less relevant matches:

Low match PROSTATE CANCER


The prostate is the gland below a man's bladder that produces fluid for semen. Prostate cancer is common among older men. It is rare in men younger than 40. Risk factors for developing prostate cancer include being over 65 years of age, family history, and being African-American. Symptoms of prostate cancer may include Problems passing urine, such as pain, difficulty starting or stopping the stream, or dribbling Low back pain Pain with ejaculation To diagnose prostate cancer, you doctor may do a digital rectal exam to feel the prostate for lumps or anything unusual. You may also get a blood test for prostate-specific antigen (PSA). These tests are also used in prostate cancer screening, which looks for cancer before you have symptoms. If your results are abnormal, you may need more tests, such as an ultrasound, MRI, or biopsy. Treatment often depends on the stage of the cancer. How fast the cancer grows and how different it is from surrounding tissue helps determine the stage. Men with prostate cancer have many treatment options. The treatment that's best for one man may not be best for another. The options include watchful waiting, surgery, radiation therapy, hormone therapy, and chemotherapy. You may have a combination of treatments. NIH: National Cancer Institute

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PROSTATE CANCER

Low match HEREDITARY BREAST AND OVARIAN CANCER SYNDROME


Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Melanoma
  • Breast carcinoma
  • Ovarian neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY BREAST AND OVARIAN CANCER SYNDROME

Low match BREAST CANCER


Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement.

BREAST CANCER Is also known as breast cancer, familial

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Gynecomastia
  • Breast carcinoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about BREAST CANCER

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 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 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Prostate cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Breast carcinoma Common - Between 50% and 80% cases
Carcinoma Common - Between 50% and 80% cases
Neoplasm of the pancreas Uncommon - Between 30% and 50% cases
Ovarian neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Prostate cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm of the skin

Rare Symptoms - Less than 30% cases


Colon cancer Sarcoma Endometrial carcinoma Bladder neoplasm Leukemia Ovarian carcinoma Sprengel anomaly Lipoma Cone-shaped epiphyses of the phalanges of the hand Intellectual disability Abnormality of the clavicle Short attention span Enuresis Villous atrophy 11 pairs of ribs Enlarged joints Speech apraxia Hyperextensibility of the finger joints Broad columella Tethered cord Short columella Celiac disease Short clavicles Abnormality of the hand Recurrent otitis media Broad thumb Long eyelashes Short thumb Generalized hirsutism Finger clinodactyly Nephrocalcinosis Abnormality of the fingernails Nasal speech Proportionate short stature Abnormality of the voice Trigonocephaly Language impairment Clubbing Impulsivity Preauricular pit High pitched voice Spinal dysraphism Stiff neck Epididymal cyst Short upper lip Chronic atrophic gastritis Retinoblastoma Neoplasm of the breast Soft tissue sarcoma Renal neoplasm Gastritis Stomach cancer Adenocarcinoma of the colon Pain Nevus Lymphoma Squamous cell carcinoma Basal cell carcinoma Hodgkin lymphoma Meningioma Bladder carcinoma Gynecomastia Primary peritoneal carcinoma Expressive language delay Curved fingers Varicocele Persistent left superior vena cava Pseudoarthrosis Congenital pseudoarthrosis of the clavicle Congenital posterior urethral valve Low posterior hairline Enlarged naris Broad fingertip Ovarian papillary adenocarcinoma Abnormal soft palate morphology Generalized cerebral atrophy/hypoplasia Mesocardia Neoplasm of the central nervous system Neoplasm of the lung Melanoma Abnormality of the fallopian tube Short palpebral fissure Interphalangeal joint contracture of finger Seizures Clinodactyly Atrial septal defect Vomiting Abnormality of the dentition Intellectual disability, mild Headache Dilatation Abnormality of cardiovascular system morphology Hypospadias Abnormal heart morphology Abnormality of the skeletal system Inguinal hernia Delayed skeletal maturation Clinodactyly of the 5th finger Babinski sign Constipation Posteriorly rotated ears Upslanted palpebral fissure Hyperactivity Short neck Gait disturbance Mandibular prognathia Cryptorchidism Global developmental delay Short stature Hearing impairment Microcephaly Growth delay Micrognathia Strabismus Abnormal facial shape Low-set ears Intrauterine growth retardation Cognitive impairment High palate Delayed speech and language development Hypertension Hyperreflexia Dysarthria Wide nasal bridge Hypothyroidism Gastroesophageal reflux Apraxia Hypoplasia of the maxilla Poor speech Joint hyperflexibility Smooth philtrum Thin vermilion border Bulbous nose Hirsutism Downturned corners of mouth Small hand Triangular face Hypermetropia Broad nasal tip Prominent nose Dental malocclusion Underdeveloped nasal alae Otitis media Microdontia Hypoplasia of penis Coarctation of aorta Malabsorption Small for gestational age Kyphoscoliosis Joint laxity Umbilical hernia Thin upper lip vermilion Deeply set eye Conductive hearing impairment Hydronephrosis Arthritis Anxiety Aggressive behavior Telecanthus Neurological speech impairment Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Joint stiffness Wide mouth Craniosynostosis Camptodactyly of finger Short philtrum Prominent nasal bridge Duodenal adenocarcinoma



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