Cognitive impairment, and Colon cancer

Diseases related with Cognitive impairment and Colon cancer

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


Top matches:

Medium 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

Medium match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

Low match NAIL-PATELLA SYNDROME; NPS


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

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Other less relevant matches:

Low match DIAMOND-BLACKFAN ANEMIA 1; DBA1


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

Low match COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3


COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3 Is also known as colorectal cancer, susceptibility to, on chromosome 18

Related symptoms:

  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER, SUSCEPTIBILITY TO, 3; CRCS3

Low match BLOOD GROUP, VEL SYSTEM; VEL


The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by Daniels, 2002; Storry et al., 2013; Cvejic et al., 2013; Ballif et al., 2013).

Related symptoms:

  • Neoplasm
  • Colon cancer


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, VEL SYSTEM; VEL

Low match POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2


Related symptoms:

  • Neoplasm
  • Colon cancer
  • Adenomatous colonic polyposis
  • Hyperplastic colonic polyposis
  • Juvenile colonic polyposis


SOURCES: MESH OMIM MENDELIAN

More info about POLYPOSIS SYNDROME, HEREDITARY MIXED, 2; HMPS2

Low match COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12


Colorectal cancer-12 is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see {114500}.

COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12 Is also known as colorectal cancer, susceptibility to, on chromosome 12q24

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Colon cancer
  • Colorectal polyposis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER, SUSCEPTIBILITY TO, 12; CRCS12

Low match HEREDITARY MIXED POLYPOSIS SYNDROME


Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.

HEREDITARY MIXED POLYPOSIS SYNDROME Is also known as crac1|chromosome 15q13-q14 duplication syndrome, 40-kb|hmps|colorectal adenoma and carcinoma 1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Colon cancer
  • Abnormality of abdomen morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MIXED POLYPOSIS SYNDROME

Low match DESMOPLASTIC/NODULAR MEDULLOBLASTOMA


Desmoplastic/nodular medulloblastoma is a histological variant of medulloblastoma (see this term), an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache.

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nevus
  • Basal cell carcinoma
  • Colon cancer


SOURCES: ORPHANET OMIM MENDELIAN

More info about DESMOPLASTIC/NODULAR MEDULLOBLASTOMA

Top 5 symptoms//phenotypes associated to Cognitive impairment and Colon cancer

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Rare Symptoms - Less than 30% cases


Depressed nasal ridge Cleft upper lip Intestinal polyposis Intellectual disability Edema Hearing impairment Microcephaly Growth delay Micrognathia Cataract Coarctation of aorta Intrauterine growth retardation Myelodysplasia Basal cell carcinoma Ventricular septal defect Abnormal heart morphology Clinodactyly of the 5th finger Aortic regurgitation Downslanted palpebral fissures Atrial septal defect Cleft lip Paresthesia Fatigue Flexion contracture Muscular hypotonia Nausea and vomiting Patellar aplasia Ridged nail Albuminuria Concave nail Patellar hypoplasia Aplasia/Hypoplasia of the patella Microalbuminuria Tubulointerstitial nephritis Cervical ribs Abnormality of abdomen morphology Congenital nephrotic syndrome Antecubital pterygium Absent distal interphalangeal creases Raynaud phenomenon Deep-set nails Microphakia Hypoplasia of first ribs Glenoid fossa hypoplasia Iliac horns Hypoplastic radial head Thickening of the lateral border of the scapula Stellate iris Quadriceps aplasia Disproportionate prominence of the femoral medial condyle Triceps aplasia Elongated radius Nevus Brain neoplasm Blue irides Lumbar hyperlordosis Abnormality of the kidney Nail dystrophy Arthrogryposis multiplex congenita Talipes Confusion Oral cleft Hematuria Nephropathy Microcornea Nail dysplasia Nephrotic syndrome Medulloblastoma Recurrent urinary tract infections Abnormality of the elbow Renal dysplasia Spina bifida Abnormality of the urinary system Pterygium Glomerulonephritis Nephritis Anonychia Limited elbow extension Keratoconus Renal cell carcinoma Patellar dislocation Lester's sign Absence of pectoralis minor muscle Congenital hypoplastic anemia Biceps aplasia Myeloid leukemia Pancytopenia Short thumb Hydrops fetalis Bone marrow hypocellularity Abnormal dermatoglyphics Hypoplasia of the radius Abnormality of the hand Triphalangeal thumb Delayed cranial suture closure Congenital glaucoma Vertebral fusion Absent thumb Acute myeloid leukemia Branchial cyst Macrocytic anemia Erythroid hypoplasia Thrombocytosis Hypoplastic ilia Osteosarcoma 11 pairs of ribs Aplastic anemia Partial duplication of thumb phalanx Increased mean corpuscular volume Everted upper lip vermilion Anemia of inadequate production Reticulocytopenia Unilateral cleft lip Webbed neck Persistence of hemoglobin F Parietal foramina Proteinuria Failure to thrive Strabismus Anemia Colorectal polyposis Juvenile colonic polyposis High palate Hyperplastic colonic polyposis Short neck Vomiting Congestive heart failure Thrombocytopenia Retrognathia Pallor Hypoplastic anemia Adenomatous colonic polyposis Abnormal cardiac septum morphology Leukemia Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Lethargy Narrow chest Nausea Neutropenia Transient erythroblastopenia Bifid thoracic vertebrae Premature birth Elevated red cell adenosine deaminase activity Hypertelorism Abnormal aortic morphology Pes planus Urinary tract neoplasm Dysgraphia Amaurosis fugax Leiomyosarcoma Pancreatic adenocarcinoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Global developmental delay Pituitary adenoma Generalized hypotonia Abnormal facial shape Low-set ears Depressed nasal bridge Epicanthus Frontal bossing Abnormality of the skeletal system Ventriculomegaly Intellectual disability, mild Short nose Microphthalmia Prostate cancer Neoplasm of the pancreas Clinodactyly Abnormal pyramidal sign Visual impairment Dysarthria Gait disturbance Hypertonia Behavioral abnormality Depressivity Constipation Abdominal pain Weight loss Anxiety Developmental regression Irritability Attention deficit hyperactivity disorder Hepatocellular carcinoma Neurological speech impairment Malabsorption Dyskinesia Migraine Gastrointestinal hemorrhage Memory impairment Hallucinations Increased intracranial pressure Breast carcinoma Hemiplegia/hemiparesis Visual field defect Neuroblastoma Ovarian neoplasm Abnormality of cardiovascular system morphology Delayed skeletal maturation Osteoporosis Subvalvular aortic stenosis Sleep apnea Abnormality of vision Nephroblastoma Aplasia/Hypoplasia of the cerebellum Atrioventricular canal defect Multiple cafe-au-lait spots Abnormality of immune system physiology Abnormal lung lobation Acute lymphoblastic leukemia Abnormality of the skull Duodenal atresia Abnormality of the upper limb Rhabdomyosarcoma Holoprosencephaly Stomach cancer Increased nuchal translucency Epidermoid cyst Premature chromatid separation Vaginal neoplasm Scoliosis Sensorineural hearing impairment Pain Ptosis Hypertension Talipes equinovarus Renal insufficiency Pectus excavatum Aplasia/Hypoplasia of the corpus callosum Microretrognathia Hypothyroidism Abnormality of skin pigmentation Polyhydramnios High forehead Deeply set eye Low-set, posteriorly rotated ears Apnea Abnormality of the eye Craniosynostosis Blepharophimosis Corneal opacity Small for gestational age Muscular dystrophy Dolichocephaly Long face Osteolysis Bulbous nose Wide nose Ascites Triangular face Growth hormone deficiency Dandy-Walker malformation Sloping forehead Ambiguous genitalia Short palpebral fissure Rhizomelia Cafe-au-lait spot Multicystic kidney dysplasia Finger clinodactyly Cerebellar medulloblastoma



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