Cataract, and Colon cancer

Diseases related with Cataract and Colon cancer

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


Top matches:

Medium match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Medium match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Medium 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:

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 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1


Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010). Genetic Heterogeneity of Susceptibility to Cutaneous Malignant MelanomaThe locus for susceptibility to familial cutaneous malignant melanoma-1 (CMM1) has been mapped to chromosome 1p36. Other CMM susceptibility loci include CMM2 (OMIM ), caused by variation in the CDKN2A gene (OMIM ) on chromosome 9p21; CMM3 (OMIM ), caused by variation in the CDK4 gene (OMIM ) on chromosome 12q14; CMM4 (OMIM ), mapped to chromosome 1p22; CMM5 (OMIM ), caused by variation in the MC1R gene (OMIM ) on chromosome 16q24; CMM6 (OMIM ), caused by variation in the XRCC3 gene (OMIM ) on chromosome 14q32; CMM7 (OMIM ), mapped to chromosome 20q11; CMM8 (OMIM ), caused by variation in the MITF gene (OMIM ) on chromosome 3p13; CMM9 (OMIM ), caused by variation in the TERT gene (OMIM ) on chromosome 5p15; and CMM10 (OMIM ), caused by mutation in the POT1 gene (OMIM ) on chromosome 7q31.Somatic mutations causing malignant melanoma have also been identified in several genes, including BRAF (OMIM ), STK11 (OMIM ), PTEN (OMIM ), TRRAP (OMIM ), DCC (OMIM ), GRIN2A (OMIM ), ZNF831, BAP1 (OMIM ), and RASA2 (OMIM ). A large percentage of melanomas (40-60%) carry an activating somatic mutation in the BRAF gene, most often V600E ({164757.0001}) (Davies et al., 2002; Pollock et al., 2003).

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1 Is also known as familial atypical mole-malignant melanoma syndrome|b-k mole syndrome|melanoma, familial|dns|dysplastic nevus syndrome, hereditary|cmm|melanoma, cutaneous malignant|mlm|fammm|melanoma, malignant

Related symptoms:

  • Neoplasm
  • Abnormality of the eye
  • Retinopathy
  • Nevus
  • Neoplasm of the skin


SOURCES: OMIM MENDELIAN

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

Low match ALPORT SYNDROME, X-LINKED; ATS


Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Low match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY 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

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

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intestinal polyposis Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Glaucoma Intellectual disability Short stature Hearing impairment Vomiting Fatigue

Rare Symptoms - Less than 30% cases


Cafe-au-lait spot Cleft lip Aortic regurgitation Myelodysplasia Nephrotic syndrome Hematuria Cleft upper lip Nephroblastoma Proteinuria Tubulointerstitial nephritis Clinodactyly of the 5th finger Renal insufficiency Hypertension Rhabdomyosarcoma Sensorineural hearing impairment Multiple cafe-au-lait spots Nephritis Leukemia Neutropenia Pallor Depressed nasal ridge Coarctation of aorta Freckling Osteosarcoma Abnormality of the eye Thrombocytopenia Abnormal heart morphology Sarcoma Atrial septal defect Ventricular septal defect Intrauterine growth retardation Micrognathia Growth delay Microcephaly Retinopathy Downslanted palpebral fissures Blue irides Acute lymphoblastic leukemia Anemia Abnormality of skin pigmentation Nail dystrophy Nail dysplasia Weight loss Paresthesia Pain Stomach cancer Increased mean corpuscular volume Dyspnea Photophobia Aplastic anemia Congenital cataract Dry skin Everted upper lip vermilion Stage 5 chronic kidney disease Ichthyosis Bilateral sensorineural hearing impairment Subcutaneous nodule Leukopenia Abdominal situs inversus Foam cells Corneal dystrophy Congenital hypoplastic anemia Tinnitus Midface retrusion Parietal foramina Unilateral cleft lip Macular dystrophy Glomerulopathy Hypoparathyroidism Microscopic hematuria Edema of the lower limbs Corneal erosion Reticulocytopenia Anemia of inadequate production Chronic kidney disease Dysphagia Partial duplication of thumb phalanx Hypoplastic anemia Abnormality of the upper limb Subvalvular aortic stenosis Hypoplastic coccygeal vertebrae Abnormal aortic morphology Transient erythroblastopenia Increased nuchal translucency Epidermoid cyst Premature chromatid separation Vaginal neoplasm Bifid thoracic vertebrae Nevus Neoplasm of the skin Melanoma Elevated red cell adenosine deaminase activity Persistence of hemoglobin F Headache Melanocytic nevus Branchial cyst Erythroid hypoplasia Cutaneous melanoma Chondrosarcoma Pancreatic adenocarcinoma Numerous nevi Uveal melanoma Oropharyngeal squamous cell carcinoma Atypical nevus Atypical nevi in non-sun exposed areas Pancreatic squamous cell carcinoma Myopia Periorbital edema Elliptocytosis Pancytopenia Macroscopic hematuria Adenocarcinoma of the colon Congenital glaucoma Flexion contracture Strabismus Failure to thrive Hypertelorism Vertebral fusion Absent thumb High palate Acute myelomonocytic leukemia Gray matter heterotopias Myeloid leukemia Axillary freckling Colorectal polyposis Glioblastoma multiforme Delayed cranial suture closure Triphalangeal thumb Acute myeloid leukemia Hydrops fetalis Premature birth Nausea Nausea and vomiting Narrow chest Short thumb Lethargy Bone marrow hypocellularity Short neck Abnormal cardiac septum morphology Abnormal dermatoglyphics Retrognathia Hypoplasia of the radius Congestive heart failure Abnormality of the hand Ependymoma Intestinal polyp Webbed neck Morphological abnormality of the semicircular canal Hypopigmentation of the skin Hypoplastic ilia 11 pairs of ribs Carcinoma Agenesis of corpus callosum Cylindruria Lentiglobus Lymphoma Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation Neoplasm of the colon Uterine neoplasm Lenticonus Sepsis Heterotopia Neoplasm of the central nervous system Pituitary adenoma Lisch nodules Macrocytic anemia Glioma Medulloblastoma Astrocytoma Brain neoplasm Abnormality of abdomen morphology Hypermelanotic macule Duodenal atresia Hodgkin lymphoma Thrombocytosis Neuroblastoma Multiple lipomas Neurofibromas Basal cell carcinoma Thickening of the glomerular basement membrane Dandy-Walker malformation Abnormality of the skull Osteoporosis Oral cleft Confusion Talipes Arthrogryposis multiplex congenita Abnormality of the kidney Pes planus Pectus excavatum Microcornea Talipes equinovarus Ptosis Scoliosis Decreased taste sensation Gastrointestinal carcinoma Glossitis Nephropathy Lumbar hyperlordosis Peripheral edema Keratoconus Ridged nail Patellar aplasia Raynaud phenomenon Abnormality of the elbow Patellar dislocation Renal cell carcinoma Limited elbow extension Recurrent urinary tract infections Anonychia Glomerulonephritis Pterygium Abnormality of the urinary system Spina bifida Renal dysplasia Patchy alopecia Hamartomatous polyposis Patellar hypoplasia Autoimmunity Hypocalcemia Hyperpigmentation of the skin Lymphedema Anorexia Tapered finger Malabsorption Abdominal pain Abnormal intestine morphology Alopecia Splenomegaly Diarrhea Macrocephaly Hepatomegaly Muscle weakness Abnormality of the fingernails Cachexia Protein-losing enteropathy Abnormality of the vasculature Dystrophic fingernails Furrowed tongue Clubbing of fingers Dystrophic toenail Hematochezia Hypomagnesemia Xerostomia Hypokalemia Thromboembolism Generalized hyperpigmentation Sparse body hair Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Clubbing Hypoalbuminemia Concave nail Aplasia/Hypoplasia of the patella Abnormal lung lobation Blepharophimosis Bulbous nose Long face Dolichocephaly Muscular dystrophy Small for gestational age Corneal opacity Craniosynostosis Ascites Apnea Low-set, posteriorly rotated ears Deeply set eye High forehead Polyhydramnios Hypothyroidism Wide nose Triangular face Clinodactyly Holoprosencephaly Abnormality of immune system physiology Atrioventricular canal defect Aplasia/Hypoplasia of the cerebellum Abnormality of vision Sleep apnea Aplasia/Hypoplasia of the corpus callosum Microretrognathia Growth hormone deficiency Osteolysis Finger clinodactyly Multicystic kidney dysplasia Rhizomelia Short palpebral fissure Ambiguous genitalia Sloping forehead Delayed skeletal maturation Abnormality of cardiovascular system morphology Microalbuminuria Hypoplasia of first ribs Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Hypoplastic radial head Iliac horns Glenoid fossa hypoplasia Microphakia Triceps aplasia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Cervical ribs Disproportionate prominence of the femoral medial condyle Elongated radius Microphthalmia Depressed nasal bridge Short nose Intellectual disability, mild Ventriculomegaly Abnormality of the skeletal system Frontal bossing Epicanthus Cognitive impairment Absence of pectoralis minor muscle Low-set ears Muscular hypotonia Abnormal facial shape Generalized hypotonia Global developmental delay Biceps aplasia Lester's sign Hypoplastic sacral vertebrae



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