Carcinoma, and Retinopathy

Diseases related with Carcinoma and Retinopathy

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


Top matches:

Medium match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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Other less relevant matches:

Low match SMALL CELL LUNG CANCER


Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure.

SMALL CELL LUNG CANCER Is also known as sclc|sccl|sclc1

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Subcutaneous nodule
  • Neoplasm of the lung
  • Retinoblastoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMALL CELL LUNG CANCER

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 ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2


Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). Some patients with PSENEN-associated acne inversa also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease (DDD; see {179850}) (Zhou et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of acne inversa, see {142690}.

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperkeratosis
  • Carcinoma
  • Scarring


SOURCES: OMIM MENDELIAN

More info about ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

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 ESOPHAGEAL CANCER


Esophageal cancer, particularly esophageal squamous cell carcinoma (ESCC), is one of the most common cancers worldwide. Both environmental and genetic risk factors play a role in the pathogenesis of the disorder. In Europe and North America, heavy smoking, alcohol consumption, and increased body mass index (BMI) are the main environmental risk factors. In contrast, the particularly high incidence of ESCC in some areas of China, central Asia, and southern Africa is associated with nutritional deficiencies, high intake of nitrosamine-rich or pickled vegetables, and low socioeconomic status; smoking, alcohol consumption, and BMI play a lesser role in these populations. There is a tendency for familial aggregation of ESCC in high-risk geographic areas, suggesting a genetic component to increased susceptibility. Gastric cardia adenocarcinoma is another common type of cancer in China that shows similarities to ESCC in terms of geographic distribution and environmental risk factors (summary by Wang et al., 2010 and Abnet et al., 2010). Genetic Heterogeneity of Susceptibility to Esophageal CancerSee a variant in the ADH1B gene ({103720.0001}) for discussion of a possible genetic association with protection against squamous cell aerodigestive tract cancer, including esophageal cancer, in alcohol drinkers. See a variant in the ALDH2 gene ({100650.0001}) for discussion of a possible genetic association with increased risk for esophageal cancer in alcohol drinkers due to interaction between variants in the ADH1B and ALDH2 genes.See the S100A14 gene (OMIM ) on chromosome 1q21 for a discussion of a possible association between variation in that gene and susceptibility to esophageal squamous cell carcinoma among smokers. Genetic Heterogeneity of Somatic Mutations in Esophageal CancerSomatic mutations in several different genes have been found in esophageal cancer tissue. These genes include TP53 (OMIM ), CDKN2A (OMIM ), DEC1 (OMIM ), DCC (OMIM ), DLEC1 (OMIM ), TGFBR2 (OMIM ), LZTS1 (OMIM ), RNF6 (OMIM ), WWOX (OMIM ), APC (OMIM ), and RUNX3 (OMIM ).

Related symptoms:

  • Neoplasm
  • Dysphagia
  • Obesity
  • Weight loss
  • Gastroesophageal reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESOPHAGEAL CANCER

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 UVEAL MELANOMA


Uveal melanoma is a rare tumor of the eye, arising from the choroid in 90% of cases and from the iris and ciliary body in the other 10% of cases, which clinically presents with visual symptoms (including blurred vision, photopsia, floaters, and visual field reduction), a visible mass and pain. Fatal metastatic disease is seen in about half of all patients, with the liver being the most frequent site of metastasis.

UVEAL MELANOMA Is also known as choroidal melanoma|iris melanoma

Related symptoms:

  • Neoplasm
  • Visual loss
  • Carcinoma
  • Retinal detachment
  • Nevus


SOURCES: ORPHANET OMIM MENDELIAN

More info about UVEAL MELANOMA

Top 5 symptoms//phenotypes associated to Carcinoma and Retinopathy

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Retinoblastoma Uncommon - Between 30% and 50% cases
Neoplasm of the lung Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Chest pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Carcinoma and Retinopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Squamous cell carcinoma Congestive heart failure

Rare Symptoms - Less than 30% cases


Conductive hearing impairment Hypopigmentation of the skin Pain Cataract Cutaneous melanoma Colon cancer Thyroid carcinoma Hyperkeratosis Peripheral arterial stenosis Obesity Renal artery stenosis Endometrial carcinoma Pulmonary artery stenosis Ovarian neoplasm Telangiectasia of the skin Melanoma Breast carcinoma Sarcoma Abnormality of the voice Short stature Neoplasm of the stomach Soft tissue sarcoma Weight loss Visual loss Scarring Glomerulosclerosis Coronal craniosynostosis Elevated hepatic transaminase Renal hypoplasia/aplasia Malabsorption Portal hypertension Heart murmur Pulmonic stenosis Pruritus Broad forehead Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Chorioretinal atrophy Abnormality of the kidney Protruding ear Long nose Abnormality of the vasculature Prolonged neonatal jaundice Corneal dystrophy Renal tubular acidosis Cholestatic liver disease Abnormality of the ureter Posterior embryotoxon Exocrine pancreatic insufficiency Short philtrum Hepatocellular carcinoma Stroke Intrahepatic cholestasis Dilatation of the cerebral artery Abnormality of the liver Keratoconus Short distal phalanx of finger Hypercholesterolemia Specific learning disability Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Gastrointestinal hemorrhage Cholestasis Prominent nose Flat face Round face Vesicoureteral reflux Triangular face Hypodontia Hypertriglyceridemia Abnormal form of the vertebral bodies Microcornea Abnormal vertebral morphology Finger clinodactyly Multicystic kidney dysplasia Delayed puberty Hemivertebrae Pointed chin Anal atresia Stage 5 chronic kidney disease Renal dysplasia Lymphedema Craniosynostosis Abnormality of skin pigmentation Cirrhosis Hepatic failure Abnormal pupil morphology Exotropia Spina bifida occulta Band keratopathy Peripheral pulmonary artery stenosis Oligodontia Hereditary nonpolyposis colorectal carcinoma Transitional cell carcinoma of the bladder Colorectal polyposis Leiomyosarcoma Ulcerative colitis Renal cell carcinoma Colitis Increased body mass index Retinal detachment Esophageal neoplasm Recurrent singultus Barrett esophagus Abnormality of the neck Hemoptysis Abnormal intestine morphology Lymphadenopathy Uterine leiomyosarcoma Nevus Gastroesophageal reflux Uveal melanoma Abnormal visual accommodation Ciliary body melanoma Iris melanoma Choroidal melanoma Inferior lens subluxation Subretinal fluid Photopsia Zonular cataract Basal cell carcinoma Abnormal fundus morphology Metamorphopsia Mydriasis Vitreous hemorrhage Ocular pain Inflammatory abnormality of the eye Abnormality of refraction Increased intraocular pressure Cough Dysphagia Fat malabsorption Vitamin D deficiency Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Axenfeld anomaly Small cell lung carcinoma Papillary thyroid carcinoma Hepatosplenomegaly Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Subcutaneous nodule Gynecomastia Increased level of L-fucose in urine Chronic furunculosis Helicobacter pylori infection Chronic atrophic gastritis Gastritis Stomach cancer Nephroblastoma Macular hyperpigmentation Perifolliculitis Acne inversa Prostate cancer Recurrent cutaneous abscess formation Reticular hyperpigmentation Follicular hyperkeratosis Atrophic scars Acne Epidermal acanthosis Papule Neoplasm of the breast Deeply set eye Intellectual disability, mild Jaundice Rod-cone dystrophy Joint stiffness Proptosis Micropenis Diabetes mellitus Hypogonadism Osteoporosis Alopecia Retinal degeneration Behavioral abnormality Abnormality of the dentition Skeletal muscle atrophy Peripheral neuropathy Visual impairment Episodic hypertension Elevated urinary norepinephrine Leukemia Nephropathy Positive regitine blocking test Insulin resistance Spontaneous abortion Hypergonadotropic hypogonadism Hoarse voice Increased bone mineral density Narrow face Abnormality of the hair Skin ulcer Abnormality of retinal pigmentation Small hand Decreased body weight Sparse scalp hair Myocardial infarction Type II diabetes mellitus Decreased testicular size Convex nasal ridge Coma Paroxysmal vertigo Paraganglioma of head and neck Macular degeneration Hematuria Aniridia Cerebral hemorrhage Hypercalcemia Dysphonia Hemangioma Cafe-au-lait spot Palpitations Tachycardia Vocal cord paralysis Nausea Congenital cataract Pallor Proteinuria Hyperhidrosis Fatigue Tremor Episodic abdominal pain Raynaud phenomenon Elevated urinary dopamine Episodic paroxysmal anxiety Elevated urinary epinephrine Extraadrenal pheochromocytoma Episodic hyperhidrosis Panic attack Hypertensive retinopathy Hypertension associated with pheochromocytoma Adrenal pheochromocytoma Pulsatile tinnitus Flushing Recurrent paroxysmal headache Albuminuria Cranial nerve compression Sinus tachycardia Paraganglioma Pheochromocytoma Neoplasm of the endocrine system Type I diabetes mellitus Atherosclerosis Coarse facial features Growth delay Cryptorchidism Abnormal facial shape Strabismus Micrognathia Failure to thrive Hypertelorism Hearing impairment Hepatomegaly Global developmental delay Intellectual disability Acral lentiginous melanoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Depressed nasal bridge Myopia Subcutaneous calcification Areflexia Macrotia Acidosis Brachycephaly Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Delayed skeletal maturation Clinodactyly Intrauterine growth retardation Dilatation Renal insufficiency Atrial septal defect Ventricular septal defect Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Neoplasm of the small intestine Poliosis Laryngomalacia Premature graying of hair Secondary amenorrhea Myeloid leukemia Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Polyphagia High pitched voice Subcapsular cataract Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Myelodysplasia Lipodystrophy Dermal atrophy Prematurely aged appearance Premature loss of teeth Abnormal hair whorl Pili torti Chorioretinitis Narrow nasal ridge Arteriosclerosis Enlarged joints White forelock Slender build Abnormality of the testis Chondrocalcinosis Alopecia of scalp Lack of skin elasticity Abnormality of the cerebral vasculature Osteosarcoma Renal neoplasm Meningioma Progeroid facial appearance Posterior subcapsular cataract Choroidal nevus



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