Carcinoma, and Hypodontia

Diseases related with Carcinoma and Hypodontia

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


Top matches:

High match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

High match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

High match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

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Other less relevant matches:

High 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

High match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium 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

Medium match LIPOID PROTEINOSIS


Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Medium match PAPILLON-LEFÈVRE SYNDROME


Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

PAPILLON-LEFÈVRE SYNDROME Is also known as keratosis palmoplantar-periodontopathy syndrome|pls|keratosis palmoplantaris with periodontopathia

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Recurrent respiratory infections
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PAPILLON-LEFÈVRE SYNDROME

Medium match FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1


Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1 Is also known as apc|familial polyposis of the colon|fpc|adenomatous polyposis of the colon|polyposis, adenomatous intestinal

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS 1; FAP1

Medium match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Top 5 symptoms//phenotypes associated to Carcinoma and Hypodontia

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Carious teeth Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypotrichosis Papule Alopecia Hyperkeratosis Palmoplantar keratoderma Coarse facial features Agenesis of permanent teeth Cataract Micrognathia Sparse hair Hyperhidrosis Fragile nails Osteolysis Neoplasm of the skin Melanoma Pain Conductive hearing impairment Macrotia Prominent forehead Frontal bossing Downslanted palpebral fissures Scoliosis Hypertelorism Macrocephaly Strabismus Abnormal facial shape Abnormality of the skeletal system Cerebral calcification Growth delay Seizures Squamous cell carcinoma Renal cell carcinoma Plantar hyperkeratosis Cryptorchidism Global developmental delay Nail dystrophy

Rare Symptoms - Less than 30% cases


Heart murmur Small nail Oligodontia Vesicoureteral reflux Hypermetropia Leukemia Respiratory tract infection Abnormality of the kidney Aggressive behavior Hyperpigmentation of the skin Jaundice Mandibular prognathia Scarring Colon cancer Stroke Atrial septal defect Ventricular septal defect Kyphoscoliosis Congestive heart failure Parietal bossing Hypertriglyceridemia Delayed puberty Arachnodactyly Abnormality of the ribs Papillary thyroid carcinoma Abnormal vertebral morphology Lymphedema Recurrent respiratory infections Pustule Astrocytoma Visual loss Failure to thrive Brain neoplasm Short stature Hypercholesterolemia Chorioretinal atrophy Multiple impacted teeth Hamartomatous polyposis Proptosis Brachycephaly Hypertension Thyroid carcinoma Prolonged neonatal jaundice Spina bifida occulta Hemivertebrae Exotropia Colorectal polyposis Precocious puberty Reduced number of teeth Medulloblastoma Pointed chin Colitis Ulcerative colitis Ectodermal dysplasia High palate Neoplasm of the lung Bird-like facies Sensorineural hearing impairment Flexion contracture Generalized osteoporosis Delayed skeletal maturation Alopecia of scalp Osteoporosis Abnormal oral mucosa morphology Joint laxity Erythema Pruritus Cutis laxa Down-sloping shoulders Abnormality of the fingernails Nail dysplasia Thin nail Hypogonadotrophic hypogonadism Abnormality of the gingiva Relative macrocephaly Palmoplantar hyperkeratosis Basal cell carcinoma Infertility Thickened skin Premature loss of primary teeth Hoarse voice Hypertrichosis Thrombocytosis Patchy alopecia Oral-pharyngeal dysphagia Abnormal EKG Abnormality of the nail Generalized hirsutism Acne Hypopigmented skin patches Hallucinations Subcutaneous nodule Thick lower lip vermilion Recurrent skin infections Absent eyelashes Transient ischemic attack Premature graying of hair Nasal polyposis Thin ribs Microglossia Hoarse cry Keratoconjunctivitis sicca Verrucae Hypoplastic nipples Abnormal blistering of the skin Short clavicles Paranoia Bilateral intracranial calcifications Delusions Scleroderma Exertional dyspnea High pitched voice Tongue nodules Lipoatrophy Fragile skin Prolonged QT interval Respiratory distress Memory impairment Narrow nasal ridge Narrow nasal tip Bilateral coxa valga Thin bony cortex Craniofacial disproportion Decreased serum estradiol Prolonged prothrombin time Carcinoid tumor Old-aged sensorineural hearing impairment Arteriosclerosis Reticulated skin pigmentation Aplastic clavicle Enlarged joints Hip pain Hypoplastic facial bones Keratitis Prominent scalp veins Absence of subcutaneous fat Mitral valve calcification Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Corneal arcus Intermittent claudication Carotid artery stenosis Absence of pubertal development Abnormality of the nervous system Osteolytic defects of the phalanges of the hand Absent speech Dystonia Widely patent fontanelles and sutures Dysphagia Uterine leiomyosarcoma Neoplasm of the stomach Hereditary nonpolyposis colorectal carcinoma Transitional cell carcinoma of the bladder Hyperphosphatemia Ovoid vertebral bodies Endometrial carcinoma Leiomyosarcoma Insulin-resistant diabetes mellitus at puberty Retinoblastoma Prominent superficial veins Angina pectoris Lack of skin elasticity Small face Aplasia/Hypoplasia of the earlobes Precocious atherosclerosis Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Scaling skin Chondrosarcoma Sparse body hair Hemiparesis Vertebral fusion Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Muscle stiffness Short ribs Spina bifida Bradycardia Hypotension Thoracic scoliosis Nevus Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Coloboma Facial palsy Cleft lip Telecanthus Proteinuria EEG abnormality Retrognathia Abnormality of the sternum Sprengel anomaly Glaucoma Palmar pits Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Short distal phalanx of the thumb Narrow nose Severe hydrocephalus Ovarian carcinoma Vertebral wedging Abnormality of the sense of smell Fibroma Cervical ribs Supernumerary ribs Ectopic calcification Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Polydactyly Abdominal pain Premature loss of teeth Hyperextensible skin Hepatoblastoma Epidermoid cyst Adrenocortical adenoma Stomach cancer Glioma Intestinal polyposis Increased circulating cortisol level Increased number of teeth Multiple lipomas Neurofibromas Intestinal obstruction Sarcoma Horseshoe kidney Thoracic kyphoscoliosis Intellectual disability, moderate Atrophy of alveolar ridges Halitosis Chronic furunculosis Severe periodontitis Choroid plexus calcification Recurrent cutaneous abscess formation Cigarette-paper scars Liver abscess Stomatitis Periodontitis Gingivitis Keloids Abnormality of the thorax Pectus excavatum Congenital hypertrophy of retinal pigment epithelium Microphthalmia Syndactyly Hydrocephalus Wide nasal bridge Brachydactyly Dysarthria Epicanthus Motor delay Spasticity Cleft palate Ataxia Microcephaly Duodenal polyposis Absent gallbladder Desmoid tumors Small intestine carcinoid Duodenal adenocarcinoma Odontoma Adenomatous colonic polyposis Unerupted tooth Multiple gastric polyps Abdominal mass Osteoma Fibroadenoma of the breast Cholangiocarcinoma Adrenocortical carcinoma Intestinal polyp Multiple joint contractures Malar flattening Metaphyseal widening Large hands Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Neuroblastoma Partial agenesis of the corpus callosum Nephroblastoma Overbite Redundant skin Abnormal dermatoglyphics Accelerated skeletal maturation Narrow palate Narrow face Tall stature Hypoplasia of dental enamel Heterotopia Clumsiness Apraxia Sloping forehead Overgrowth Abnormal glucose tolerance Teratoma Otitis media Areflexia Short philtrum Retinopathy Abnormality of the liver Craniosynostosis Protruding ear Elevated hepatic transaminase Deeply set eye Hepatosplenomegaly Acidosis Upslanted palpebral fissure Clinodactyly of the 5th finger Clinodactyly Hyperplasia of the maxilla Dilatation Renal insufficiency Intellectual disability, mild Intrauterine growth retardation Myopia Hepatomegaly Depressed nasal bridge Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Renal agenesis High, narrow palate Pulmonic stenosis Corneal opacity Oral leukoplakia Ankylosis Parakeratosis Curly hair Anhidrosis Mutism Opacification of the corneal stroma Skin ulcer Inflammatory abnormality of the skin Epidermal acanthosis Ichthyosis Severe short stature Hypergranulosis Poroma Apocrine hidrocystoma Narrow nail Abnormality of primary teeth Trichodysplasia Facial telangiectasia Toenail dysplasia Ridged nail Onycholysis Ovarian neoplasm Aplasia/Hypoplasia of the eyebrow Abnormality of the eye Pili torti Subungual hyperkeratosis Joint hypermobility Generalized hypotonia Genu valgum Dolichocephaly Neonatal hypotonia Pes planus Abnormal heart morphology Patent ductus arteriosus Behavioral abnormality Ventriculomegaly Optic atrophy Hyperreflexia Delayed speech and language development Nystagmus Anal fissure Amniotic constriction ring Skin fissure Circumungual hyperkeratosis Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Palmoplantar hyperhidrosis Abnormal cornea morphology Alopecia universalis Abnormality of the tongue Trichorrhexis nodosa Broad forehead Malabsorption Premature ovarian insufficiency Dyspnea Chest pain Delayed eruption of teeth Hepatic steatosis Thin vermilion border Narrow chest Dilated cardiomyopathy Hip dislocation Microtia Joint stiffness Hypertrophic cardiomyopathy Osteopenia Narrow mouth Growth hormone deficiency Hypogonadism Dementia Midface retrusion Short nose Kyphosis Cardiomyopathy Skeletal muscle atrophy Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Limitation of joint mobility Convex nasal ridge Multiple small medullary renal cysts Aspiration Hyperinsulinemia Lipodystrophy Intracranial hemorrhage Nasal speech Dermal atrophy Acanthosis nigricans Hyperlipidemia Atherosclerosis Aminoaciduria Coxa valga Hypergonadotropic hypogonadism Increased bone mineral density Aortic valve stenosis Cyanosis Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Left ventricular hypertrophy Decreased body weight Broad-based gait Thin skin Osteoarthritis Myocardial infarction Cardiomegaly Abnormality of the cardiovascular system Chronic hepatic failure Renal artery stenosis Anal atresia Pigmentary retinopathy Renal hypoplasia/aplasia Corneal dystrophy Finger clinodactyly Multicystic kidney dysplasia Renal dysplasia Abnormal form of the vertebral bodies Cholestasis Renal hypoplasia Nephrotic syndrome Coarctation of aorta Tetralogy of Fallot Specific learning disability Glomerulosclerosis Gastrointestinal hemorrhage Prominent nose Round face Triangular face Microcornea Hypopigmentation of the skin Short distal phalanx of finger Flat face Hepatic failure Cirrhosis Abnormality of skin pigmentation Stage 5 chronic kidney disease Portal hypertension Hypoplasia of the ulna Vitamin D deficiency Intrahepatic cholestasis Axenfeld anomaly Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Cholestatic liver disease Peripheral arterial stenosis Coronal craniosynostosis Malnutrition Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Long nose Vertebral segmentation defect Hamartomatous stomach polyps



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Lymphadenopathy, related diseases and genetic alterations Motor delay and Polydactyly, related diseases and genetic alterations Hyperreflexia and B-cell lymphoma, related diseases and genetic alterations Micrognathia and Renal dysplasia, related diseases and genetic alterations Hypertelorism and Intellectual disability, moderate, related diseases and genetic alterations Scoliosis and Primary amenorrhea, related diseases and genetic alterations

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