Carcinoma, and Cryptorchidism

Diseases related with Carcinoma and Cryptorchidism

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


Top matches:

High 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

High match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

High match PEDIATRIC HEPATOCELLULAR CARCINOMA


Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age.

PEDIATRIC HEPATOCELLULAR CARCINOMA Is also known as liver cancer|lcc|childhood-onset hcc|hcc|liver cell carcinoma|hepatoma|cancer, hepatocellular|childhood-onset hepatocellular carcinoma|pediatric hcc

Related symptoms:

  • Microcephaly
  • Neoplasm
  • Cryptorchidism
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEDIATRIC HEPATOCELLULAR CARCINOMA

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Other less relevant matches:

High match FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP


Fanconi anemia of complementation group P is an autosomal recessive disorder characterized by increased chromosomal instability and progressive bone marrow failure. Some patients have skeletal anomalies (summary by Kim et al., 2011).For a general description and a discussion of genetic heterogeneity of Fanconi anemia (FA), see {227650}.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP P; FANCP

High match ISOLATED HEMIHYPERPLASIA


Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma (see this term) and hepoblastoma.

ISOLATED HEMIHYPERPLASIA Is also known as hemicorporal hypertrophy|hemi 3 syndrome|hemihypertrophy, isolated|hemihyperplasia|isolated hemihypertrophy|hhp

Related symptoms:

  • Seizures
  • Scoliosis
  • Neoplasm
  • Cryptorchidism
  • Hydrocephalus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED HEMIHYPERPLASIA

High match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

High match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

High match KID SYNDROME


Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

High match XERODERMA PIGMENTOSUM


Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

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

Top 5 symptoms//phenotypes associated to Carcinoma and Cryptorchidism

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Hydrocephalus Fatigue Microcephaly Short stature Abnormality of the dentition Anemia Squamous cell carcinoma

Rare Symptoms - Less than 30% cases


Jaundice Bone marrow hypocellularity Abnormality of the kidney Hernia Overgrowth Nephroblastoma Failure to thrive Abnormality of the skeletal system Pain Macrocephaly Headache Optic atrophy Abnormal vertebral morphology Keratitis Conjunctivitis Erythema Neoplasm of the skin Photophobia Hyperkeratosis Reduced tendon reflexes Alopecia Delayed skeletal maturation Sensorineural hearing impairment Telangiectasia Papilloma Macule Delayed eruption of teeth Atrial septal defect Hypertelorism Strabismus Hamartomatous polyposis Hepatoblastoma Embryonal neoplasm Thickened skin Abdominal pain Vomiting Micrognathia Global developmental delay Coarse facial features Blepharophimosis Joint hypermobility Bulbous nose Cafe-au-lait spot Teratoma Pheochromocytoma Feeding difficulties Colon cancer Spasticity Corneal scarring Elbow flexion contracture Recurrent bacterial skin infections Skin ulcer Long foot Generalized hyperkeratosis Corneal ulceration Enlarged cisterna magna Moderate hearing impairment Trichiasis Abnormality of corneal stroma Ataxia High anterior hairline Cataract Sparse and thin eyebrow Squamous cell carcinoma of the skin EEG abnormality Abnormality of extrapyramidal motor function Poor coordination Decreased testicular size Dry skin Developmental regression Mental deterioration Arthralgia Cognitive impairment Cerebral cortical atrophy Hypogonadism Hyporeflexia Hypohidrosis Fever Peripheral neuropathy Keratoconjunctivitis Abnormality of the tongue Expressive language delay Osteolysis Sparse eyelashes Periventricular leukomalacia Hemiplegia/hemiparesis Hypoplastic toenails Abnormal glucose tolerance Absent eyebrow Congenital sensorineural hearing impairment Aplasia/Hypoplasia of the eyebrow Overbite Gray matter heterotopias Sacrococcygeal teratoma Scaling skin Urticaria Hyperplasia of the maxilla Oxycephaly Cavum septum pellucidum Recurrent corneal erosions Advanced eruption of teeth Knee flexion contracture Corneal neovascularization Small cell lung carcinoma Dystrophic fingernails Cutaneous photosensitivity Hypoplastic fingernail Furrowed tongue Cellulitis Dystrophic toenail Corneal erosion Abnormal eyelash morphology Alopecia of scalp Keratoconjunctivitis sicca Severe hearing impairment Oral leukoplakia Opacification of the corneal stroma Choreoathetosis Cutis laxa Joint laxity Narrow palate Aggressive behavior Accelerated skeletal maturation Abnormal dermatoglyphics Conductive hearing impairment Neonatal hypotonia Leukemia Pes planus Macrotia Mandibular prognathia Reduced number of teeth Prominent forehead Abnormal heart morphology Redundant skin Respiratory tract infection Dolichocephaly Behavioral abnormality Apraxia Lymphedema Tall stature Hypoplasia of dental enamel Heterotopia Clumsiness Small nail Sloping forehead Hypermetropia Renal agenesis Otitis media Pointed chin Vesicoureteral reflux Hypodontia High, narrow palate Genu valgum Patent ductus arteriosus Ventriculomegaly Thin skin Pterygium Hypermelanotic macule Melanocytic nevus Agenesis of permanent teeth Partial agenesis of the corpus callosum Ectropion Prolonged neonatal jaundice Dermal atrophy Telangiectasia of the skin Hypopigmented skin patches Neuroblastoma Melanoma Intellectual disability, progressive Acute lymphoblastic leukemia Narrow face Aminoaciduria Freckling Blepharitis Ventricular septal defect Nystagmus Frontal bossing Precocious puberty Downslanted palpebral fissures Hyperreflexia Large hands Delayed speech and language development High palate Generalized hypotonia Poikiloderma Aganglionic megacolon Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Conjunctival telangiectasia Entropion Craniofacial hyperostosis Flat nasal alae Osteosarcoma Fine hair Viral hepatitis Short palpebral fissure Pancytopenia Hypopigmentation of the skin Thrombocytopenia Growth delay Subacute progressive viral hepatitis Hepatic necrosis Horseshoe kidney Portal vein thrombosis Epigastric pain Giant cell hepatitis Elevated alpha-fetoprotein Chronic infection Chronic hepatitis Micronodular cirrhosis Short thumb Hypoplasia of the radius Neoplasm of the liver Bicuspid aortic valve Communicating hydrocephalus Myelomeningocele Increased circulating cortisol level Impaired pain sensation Multiple lipomas Neurofibromas Skeletal muscle hypertrophy Facial asymmetry Absent thumb Inguinal hernia Abnormality of cardiovascular system morphology Intellectual disability, mild Squamous cell carcinoma of the tongue Pelvic kidney Vitiligo Absent radius Hypertyrosinemia Thrombocytosis Adrenocortical adenoma Dysgerminoma Ptosis Testicular teratoma Testicular microlithiasis Choriocarcinoma Neuroma Vestibular Schwannoma Testicular dysgenesis Wide nasal bridge Testicular neoplasm Retinoblastoma Gonadal dysgenesis Male infertility Azoospermia Infertility Abnormality of metabolism/homeostasis Depressed nasal bridge Long philtrum Hepatocellular carcinoma Hepatomegaly Hepatic fibrosis Type II diabetes mellitus Hepatitis Hepatic steatosis Cirrhosis Abnormality of the liver Obesity Motor delay Clinodactyly Scrotal hypoplasia Decreased body weight Prominent nose Triangular face Thin vermilion border Smooth philtrum Narrow mouth Hemihypertrophy Asymmetric growth Progressive visual loss Macroglossia Papilledema Upper limb undergrowth Loss of consciousness Increased intracranial pressure Sleep apnea Hypertrichosis Nausea Choanal stenosis Apnea Hydronephrosis High forehead Micropenis Respiratory failure Pneumonia Depressivity Broad neck Broad ribs Recurrent infections Sparse hair Nail dysplasia Palmoplantar keratoderma Ichthyosis Carious teeth Nail dystrophy Severe global developmental delay Scarring Arthritis Choroid plexus papilloma Hyperhidrosis Pes cavus Cerebellar hypoplasia Visual loss Blindness Visual impairment Choroid plexus carcinoma Midface retrusion Talipes equinovarus Asymmetry of the thorax Umbilical hernia Epistaxis Cyanosis Gastrointestinal hemorrhage Chest pain Vertigo Cough Stroke Dyspnea Hypokalemia Congestive heart failure Diarrhea Respiratory distress Hypertension Hemiareflexia Hemifacial hypertrophy Leiomyosarcoma Diplopia Hypoalbuminemia Low-set ears Stomach cancer Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Rectal prolapse Portal hypertension Intestinal polyposis Clubbing of fingers Hematochezia Hemoptysis Polycythemia Hamartoma Clubbing Abnormality of the cerebral ventricles



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