Flexion contracture, and Colon cancer

Diseases related with Flexion contracture and Colon cancer

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

Top matches:

Low match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Other less relevant matches:

AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as axin2-related attenuated familial polyposis coli|axin2-related afap|axin2-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS Is also known as apc-related afap|apc-related attenuated familial polyposis coli|apc-related attenuated fap

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about APC-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS

Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977.

BIRT-HOGG-DUBÉ SYNDROME Is also known as hornstein-knickenberg syndrome|fibrofolliculomas with trichodiscomas and acrochordons

Related symptoms:

  • Neoplasm
  • Pain
  • Carcinoma
  • Papule
  • Renal cyst


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BIRT-HOGG-DUBÉ SYNDROME

Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about GARDNER 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

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

Low match DESMOID TUMOR

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

DESMOID TUMOR Is also known as fif|aggressive fibromatosis|desmoid type fibromatosis|fibromatosis, familial infiltrative

Related symptoms:

  • Neoplasm
  • Abdominal pain
  • Arthralgia
  • Myalgia
  • Hydronephrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOID TUMOR

Top 5 symptoms//phenotypes associated to Flexion contracture and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intestinal polyposis Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Abdominal pain Uncommon - Between 30% and 50% cases
Gastrointestinal hemorrhage Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pain Seizures Fatigue

Rare Symptoms - Less than 30% cases

Abnormality of abdomen morphology Cleft palate Neuroblastoma Anemia Pituitary adenoma Renal cell carcinoma Intestinal polyp Failure to thrive Chest pain Short stature Abnormality of retinal pigmentation Cleft upper lip Multiple lipomas Fibroma Hypertension Cafe-au-lait spot Basal cell carcinoma Cleft lip Neoplasm of the skin Adenocarcinoma of the colon Glaucoma Edema Glioblastoma multiforme Sepsis Neutropenia Paresthesia Nausea and vomiting Congestive heart failure Leukemia Malabsorption Vertebral fusion Parathyroid adenoma Congenital glaucoma Absent thumb Delayed cranial suture closure Skin tags Emphysema Renal neoplasm Myeloid leukemia Triphalangeal thumb Pneumothorax Myelodysplasia Medullary thyroid carcinoma Papillary renal cell carcinoma Clear cell renal cell carcinoma Pulmonary sequestration Spontaneous pneumothorax Cylindroma Fibrofolliculoma Salivary gland oncocytoma Abnormality of the hand Agenesis of corpus callosum Hypopigmentation of the skin Abnormality of the hair Reticulocytopenia Acute myeloid leukemia Lymphoma Anemia of inadequate production Increased mean corpuscular volume Parietal foramina Aplastic anemia Congenital hypoplastic anemia 11 pairs of ribs Everted upper lip vermilion Osteosarcoma Partial duplication of thumb phalanx Erythroid hypoplasia Branchial cyst Persistence of hemoglobin F Macrocytic anemia Hypoplastic anemia Elevated red cell adenosine deaminase activity Bifid thoracic vertebrae Transient erythroblastopenia Hypoplastic coccygeal vertebrae Hypoplastic sacral vertebrae Papule Renal cyst Nevus Hypoplastic ilia Abnormal lung morphology Unilateral cleft lip Thrombocytosis Rhabdomyosarcoma Heterotopia Intussusception Hypokalemia Hypoalbuminemia Portal hypertension Clubbing Hamartoma Polycythemia Hemoptysis Hematochezia Clubbing of fingers Rectal prolapse Stomach cancer Hamartomatous polyposis Hematemesis Melena Multiple gastric polyps Telangiectasia Intestinal obstruction Abdominal mass Epidermoid cyst Neoplasm of the breast Abnormality of the abdominal wall Abnormality of the upper urinary tract Abnormality of the musculature Osteolysis Duodenal adenocarcinoma Subcutaneous nodule Limitation of joint mobility Hydronephrosis Myalgia Arthralgia Hepatic vascular malformations Diplopia Epistaxis Sarcoma Ependymoma Nephroblastoma Hypermelanotic macule Neurofibromas Freckling Multiple cafe-au-lait spots Hodgkin lymphoma Acute lymphoblastic leukemia Brain neoplasm Astrocytoma Medulloblastoma Abnormal dermatoglyphics Glioma Lisch nodules Neoplasm of the central nervous system Colorectal polyposis Cyanosis Hernia Vertigo Cough Stroke Jaundice Umbilical hernia Dyspnea Headache Axillary freckling Diarrhea Respiratory distress Macrocephaly Cryptorchidism Acute myelomonocytic leukemia Gray matter heterotopias Hypoplasia of the radius Pallor Bone marrow hypocellularity Clinodactyly of the 5th finger Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Hearing impairment Scoliosis Sensorineural hearing impairment Cataract Ptosis Talipes equinovarus Renal insufficiency Pectus excavatum Osteoporosis Neoplasm of the thyroid gland Pes planus Proteinuria Abnormality of the kidney Nail dystrophy Arthrogryposis multiplex congenita Talipes Confusion Oral cleft Hematuria Nephropathy Microcornea Nail dysplasia Nephrotic syndrome Lumbar hyperlordosis Benign neoplasm of the central nervous system Agnosia Renal dysplasia Neurological speech impairment Muscular hypotonia Visual impairment Dysarthria Gait disturbance Hypertonia Behavioral abnormality Depressivity Constipation Weight loss Anxiety Developmental regression Irritability Abnormal pyramidal sign Attention deficit hyperactivity disorder Dyskinesia Pancreatic adenocarcinoma Migraine Memory impairment Hallucinations Increased intracranial pressure Breast carcinoma Hemiplegia/hemiparesis Visual field defect Ovarian neoplasm Hepatocellular carcinoma Neoplasm of the pancreas Prostate cancer Dysgraphia Amaurosis fugax Leiomyosarcoma Recurrent urinary tract infections Spina bifida Hydrops fetalis Short neck Elongated radius Absence of pectoralis minor muscle Lester's sign Biceps aplasia Intellectual disability Microcephaly Growth delay Hypertelorism Micrognathia Strabismus High palate Intrauterine growth retardation Downslanted palpebral fissures Ventricular septal defect Atrial septal defect Disproportionate prominence of the femoral medial condyle Vomiting Thrombocytopenia Abnormal heart morphology Retrognathia Abnormal cardiac septum morphology Lethargy Narrow chest Nausea Premature birth Webbed neck Coarctation of aorta Pancytopenia Depressed nasal ridge Short thumb Triceps aplasia Quadriceps aplasia Aortic regurgitation Concave nail Abnormality of the urinary system Pterygium Glomerulonephritis Nephritis Anonychia Limited elbow extension Keratoconus Patellar dislocation Abnormality of the elbow Blue irides Raynaud phenomenon Tubulointerstitial nephritis Patellar aplasia Ridged nail Patellar hypoplasia Stellate iris Aplasia/Hypoplasia of the patella Microalbuminuria Cervical ribs Congenital nephrotic syndrome Albuminuria Absent distal interphalangeal creases Antecubital pterygium Deep-set nails Microphakia Hypoplasia of first ribs Glenoid fossa hypoplasia Iliac horns Hypoplastic radial head Thickening of the lateral border of the scapula Desmoid tumors


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