Rod-cone dystrophy, and Colon cancer

Diseases related with Rod-cone dystrophy and Colon cancer

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


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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 MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

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

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Low match GASTRIC CANCER


In a review article on the genetic predisposition to gastric cancer, Bevan and Houlston (1999) concluded that several genes may be associated with an increased risk of gastric cancer.Gastric cancer is a manifestation of a number of inherited cancer predisposition syndromes, including hereditary nonpolyposis colon cancer (HNPCC1; see {120435}), familial adenomatous polyposis (FAP ), Peutz-Jeghers syndrome (PJS ), Cowden disease (CD ), and the Li-Fraumeni syndrome (OMIM ). See also hereditary diffuse gastric cancer (HDGC ).Canedo et al. (2007) provided a review of genetic susceptibility to gastric cancer in patients infected with Helicobacter pylori (see {600263}).

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Nephroblastoma
  • Colon cancer
  • Neoplasm of the lung


SOURCES: OMIM ORPHANET MENDELIAN

More info about GASTRIC CANCER

Low match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Low match COLORECTAL CANCER; CRC


Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

COLORECTAL CANCER; CRC Is also known as colon cancer

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Oligodontia
  • Colon cancer
  • Colitis


SOURCES: OMIM MENDELIAN

More info about COLORECTAL CANCER; CRC

Low 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

Low match BIRT-HOGG-DUBÉ SYNDROME


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

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

Low match OPITZ GBBB SYNDROME, TYPE II; GBBB2


Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects.The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986).The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (OMIM ) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms.

OPITZ GBBB SYNDROME, TYPE II; GBBB2 Is also known as opitz bbbg syndrome|gbbb syndrome|hypospadias-dysphagia syndrome|hypertelorism-hypospadias syndrome|opitz-g syndrome, type ii|telecanthus-hypospadias syndrome|g syndrome|opitz oculogenitolaryngeal syndrome, type ii|ogs2|opitz-frias syndrome|opitz gbbb syn

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about OPITZ GBBB SYNDROME, TYPE II; GBBB2

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Colon cancer

Symptoms // Phenotype % cases
Carcinoma Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Retinoblastoma Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Colon cancer. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Neoplasm of the skin

Rare Symptoms - Less than 30% cases


Micropenis Anal atresia Tracheoesophageal fistula Sepsis Pulmonary hypoplasia Neoplasm of the stomach Edema of the lower limbs Hypospadias Abnormality of cardiovascular system morphology Fibroma Intestinal polyposis Intellectual disability Subcutaneous nodule Abnormality of retinal pigmentation Sensorineural hearing impairment Edema Retinopathy Nevus Dysphagia Renal cell carcinoma Wide nasal bridge Generalized hypotonia Dystonia Hernia Intellectual disability, mild Anteverted nares Global developmental delay Desmoid tumors Abdominal mass Atrial septal defect Hypertelorism Ventriculomegaly Epicanthus Ventricular septal defect Micrognathia Strabismus Abnormal facial shape Muscular hypotonia Frontal bossing Cleft palate Downslanted palpebral fissures High palate Feeding difficulties Depressed nasal bridge Epidermoid cyst Gastrointestinal hemorrhage Neoplasm of the breast Abnormal lung morphology Renal neoplasm Skin tags Abnormality of abdomen morphology Multiple lipomas Emphysema Abnormality of the hair Cafe-au-lait spot Renal cyst Pneumothorax Papule Pain Testicular teratoma Testicular microlithiasis Choriocarcinoma Neuroma Vestibular Schwannoma Dysgerminoma Parathyroid adenoma Medullary thyroid carcinoma Abnormality of the abdominal wall Myalgia Abnormality of the upper urinary tract Abnormality of the musculature Intestinal obstruction Osteolysis Limitation of joint mobility Chest pain Malabsorption Arthralgia Intestinal polyp Abdominal pain Salivary gland oncocytoma Fibrofolliculoma Cylindroma Spontaneous pneumothorax Pulmonary sequestration Clear cell renal cell carcinoma Papillary renal cell carcinoma Patent ductus arteriosus Gastroesophageal reflux Abnormal heart morphology Hiatus hernia Widow's peak Enlarged cisterna magna Abnormality of the respiratory system Bilateral cleft lip and palate Diastasis recti Megalencephaly Bilateral cleft lip Tracheomalacia Bicornuate uterus Prominent metopic ridge Anal stenosis Abnormality of the ureter Limb dystonia Weak cry Prominent occiput Rocker bottom foot Concave nasal ridge Sagittal craniosynostosis Oral-pharyngeal dysphagia Hoarse cry Rectourethral fistula Posterior pharyngeal cleft Rectal atresia Vascular ring Laryngeal cleft Short lingual frenulum Hypoplasia of the epiglottis Aplasia/Hypoplasia of the cerebellar vermis Cavum septum pellucidum Cranial asymmetry Absent gallbladder Metopic synostosis Unilateral cleft lip Inspiratory stridor Ankyloglossia Dilated fourth ventricle Bifid scrotum Stridor Inguinal hernia Conductive hearing impairment Cough Abnormal cardiac septum morphology Coloboma Craniosynostosis Abnormality of the kidney Cleft lip Telecanthus Thin upper lip vermilion Smooth philtrum Umbilical hernia Testicular neoplasm Cerebral cortical atrophy Prominent forehead Posteriorly rotated ears Agenesis of corpus callosum Constipation Prominent nasal bridge Oral cleft Abnormality of the urinary system Recurrent urinary tract infections Recurrent upper respiratory tract infections Laryngomalacia Anosmia Cardiac arrest Hoarse voice Aortic valve stenosis Aspiration Cerebellar vermis hypoplasia Cleft upper lip Pulmonary arterial hypertension Coarctation of aorta Dandy-Walker malformation Intestinal malrotation Vesicoureteral reflux Bifid uvula High, narrow palate Iris coloboma Testicular dysgenesis Leiomyosarcoma Teratoma Abnormality of the skeletal system Abdominal distention Postaxial polydactyly Polydactyly Obesity Syndactyly Respiratory distress Cylindruria Tetralogy of Fallot Morphological abnormality of the semicircular canal Lentiglobus Anterior lenticonus Diffuse leiomyomatosis Diffuse glomerular basement membrane lamellation Neoplasm of the colon Uterine neoplasm Amenorrhea Postaxial hand polydactyly Thickening of the glomerular basement membrane Esophageal atresia Hydrometrocolpos Penoscrotal hypospadias Chordee Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Hydroureter Primary amenorrhea Polycystic kidney dysplasia Congenital hip dislocation Abnormal vertebral morphology Hydrops fetalis Lymphedema Aganglionic megacolon Choanal atresia Lenticonus Macroscopic hematuria Mesoaxial hand polydactyly Thrombocytopenia Congenital cataract Pallor Proteinuria Photophobia Dyspnea Weight loss Midface retrusion Stage 5 chronic kidney disease Headache Renal insufficiency Vomiting Fatigue Myopia Hypertension Cataract Dry skin Ichthyosis Periorbital edema Glomerulopathy Elliptocytosis Abdominal situs inversus Foam cells Corneal erosion Tubulointerstitial nephritis Microscopic hematuria Hypoparathyroidism Macular dystrophy Hematuria Nephritis Chronic kidney disease Tinnitus Corneal dystrophy Leukopenia Nephrotic syndrome Bilateral sensorineural hearing impairment Transverse vaginal septum Prominent scrotal raphe Pheochromocytoma Malnutrition Fat malabsorption Conjugated hyperbilirubinemia Intrahepatic cholestasis Thrombocytosis Hepatocellular carcinoma Steatorrhea Congenital sensorineural hearing impairment Vitamin E deficiency Pancreatitis Hyperbilirubinemia Hepatic fibrosis Cholestasis Neuronal loss in central nervous system Hepatic failure Cirrhosis Intermittent jaundice Civatte bodies Pruritus Uterine leiomyosarcoma Gonadal dysgenesis Male infertility Azoospermia Infertility Abnormality of metabolism/homeostasis Hydrocephalus Hereditary nonpolyposis colorectal carcinoma Increased serum bile acid concentration Transitional cell carcinoma of the bladder Colorectal polyposis Endometrial carcinoma Ulcerative colitis Colitis Oligodontia Intrahepatic cholestasis with episodic jaundice Ophthalmoplegia Abnormality of the liver Vesicovaginal fistula Osteosarcoma Oropharyngeal squamous cell carcinoma Uveal melanoma Numerous nevi Pancreatic adenocarcinoma Chondrosarcoma Cutaneous melanoma Blue irides Atypical nevi in non-sun exposed areas Freckling Melanocytic nevus Sarcoma Melanoma Abnormality of the eye Hydrocolpos Pelvic mass Atypical nevus Pancreatic squamous cell carcinoma Hepatosplenomegaly Failure to thrive Jaundice Severe short stature Pes cavus Areflexia Splenomegaly Diarrhea Hepatomegaly Growth delay Nephroblastoma Short stature Increased level of L-fucose in urine Helicobacter pylori infection Chronic atrophic gastritis Gastritis Stomach cancer Neoplasm of the lung Absent pulmonary artery



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Upslanted palpebral fissure, related diseases and genetic alterations

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