Carcinoma, and Apnea

Diseases related with Carcinoma and Apnea

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


Top matches:

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Pain
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2

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

Medium match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

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Other less relevant matches:

Medium match CYSTIC FIBROSIS


Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Medium match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match THYROID DYSHORMONOGENESIS 3; TDH3


Kanou et al. (2007) reviewed characteristics of thyroid dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. This form of thyroid dyshormonogenesis has an estimated prevalence of one in 100,000 newborns. Inherited in an autosomal recessive manner, the disorder in the majority of patients causes large goiters of elastic and soft consistency. Although the degree of thyroid dysfunction varies considerably among patients with defective TG synthesis, patients usually have a relatively high serum free T3 concentration with disproportionately low free T4 level. The maintenance of relatively high FT3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

THYROID DYSHORMONOGENESIS 3; TDH3 Is also known as thyroid hormonogenesis, genetic defect in, 3|hypothyroidism, congenital, due to dyshormonogenesis, 3

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Pain
  • Hypothyroidism
  • Carcinoma


SOURCES: MESH OMIM MENDELIAN

More info about THYROID DYSHORMONOGENESIS 3; TDH3

Low match LUNG CANCER


Lung cancer is the leading cause of cancer deaths in the U.S. and worldwide. The 2 major forms of lung cancer are nonsmall cell lung cancer and small cell lung cancer (see {182280}), which account for 85% and 15% of all lung cancers, respectively. Nonsmall cell lung cancer can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. Cigarette smoking causes all types of lung cancer, but it is most strongly linked with small cell lung cancer and squamous cell carcinoma. Adenocarcinoma is the most common type in patients who have never smoked. Nonsmall cell lung cancer is often diagnosed at an advanced stage and has a poor prognosis (summary by Herbst et al., 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about LUNG CANCER

Low match OVARIAN CANCER


Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

Low match THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC


Medullary thyroid carcinoma (MTC) is a malignant tumor of the calcitonin (OMIM )-secreting parafollicular C cells of the thyroid, and occurs sporadically or as a component of the multiple endocrine neoplasia (MEN) type 2 (see {171400})/familial medullary thyroid carcinoma (FMTC) syndromes (summary by Abu-Amero et al., 2006). Thyroid cancer derived from follicular epithelial cells is referred to as nonmedullary thyroid cancer and comprises several subtypes; see {188550}.

THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC Is also known as mtc1|fmtc

Related symptoms:

  • Neoplasm
  • Pain
  • Respiratory distress
  • Hypothyroidism
  • Carcinoma


SOURCES: OMIM MENDELIAN

More info about THYROID CARCINOMA, FAMILIAL MEDULLARY; MTC

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

Top 5 symptoms//phenotypes associated to Carcinoma and Apnea

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Pain Common - Between 50% and 80% cases
Respiratory distress Uncommon - Between 30% and 50% cases
Gastroesophageal reflux Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Respiratory failure Intellectual disability Nausea Pneumothorax Weight loss Squamous cell carcinoma Hemoptysis Hypertension Seizures Chest pain Feeding difficulties Hypothyroidism Low-set ears Hydrocephalus

Rare Symptoms - Less than 30% cases


Nevus Diarrhea Macroglossia Dilatation Fatigue Abdominal pain Papilloma Lymphoma Choroid plexus papilloma Follicular thyroid carcinoma Scoliosis Goiter Wheezing Ascites Sleep disturbance Delayed puberty Hypoplasia of dental enamel Irritability Intellectual disability, moderate Cafe-au-lait spot Hoarse voice Arrhythmia Growth delay Aortic aneurysm Renal insufficiency Intellectual disability, mild Tachypnea Dysphagia Hepatomegaly Abdominal distention Failure to thrive Recurrent infections Thyroid carcinoma Headache High palate Long philtrum Poor suck Kyphoscoliosis Lymphadenopathy Anteverted nares Full cheeks Depressed nasal bridge Renal cell carcinoma Hyperhidrosis Micrognathia Talipes equinovarus Feeding difficulties in infancy Abnormality of the skeletal system Abnormal facial shape Cryptorchidism Atrial septal defect Hypertelorism Abnormality of the pancreas Ileus Biliary cirrhosis Malnutrition Allergy Chronic obstructive pulmonary disease Steatorrhea Cor pulmonale Chronic lung disease Neoplasm of the pancreas Rectal prolapse Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Bronchitis Male infertility Exocrine pancreatic insufficiency Chronic pancreatitis Hypopnea Obstructive azoospermia Microscopic nephrocalcinosis Ulnar deviation of the wrist Echogenic fetal bowel Body odor Cellular metachromasia Biliary tract obstruction Elevated sweat chloride Absent vas deferens Recurrent bronchopulmonary infections Nasal polyposis Meconium ileus Pancreatic adenocarcinoma Postprandial hyperglycemia Productive cough Obstructive lung disease Secretory diarrhea Emphysema Chronic infection Shyness Pulmonary fibrosis Portal hypertension Ganglioneuroblastoma Vitreomacular adhesion Scarring Cardiomyocyte hypertrophy Abnormality of the liver Loose anagen hair Macrocephaly at birth Enlarged cerebellum Myofiber disarray Respiratory tract infection Elevated hepatic transaminase Tendon rupture Malabsorption Diabetes mellitus Recurrent respiratory infections Alveolar rhabdomyosarcoma Lymphangiectasis Immunodeficiency Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Bladder carcinoma Infertility Intestinal obstruction Sinusitis Frontal hirsutism Clubbing Vestibular Schwannoma Hypercalciuria Deep-set nails Azoospermia Pancreatitis Nephrocalcinosis Recurrent pneumonia Insulin resistance Cirrhosis Bronchiectasis Abnormal lung morphology Dehydration Decreased antibody level in blood Embryonal rhabdomyosarcoma Asthma Multifocal atrial tachycardia Neonatal sepsis Dyskinesia Congestive heart failure Heterotopia Behavioral abnormality Increased T3/T4 ratio Nausea and vomiting Constipation Abnormality of metabolism/homeostasis Non-small cell lung carcinoma Alveolar cell carcinoma Small cell lung carcinoma Lung adenocarcinoma Neoplasm of the lung Sarcoma Leukemia Congenital goiter Melanoma Compensated hypothyroidism Abnormality of the thyroid gland Aspiration Projection of scalp hair onto lateral cheek Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Increased body weight Breast carcinoma Cardiac rhabdomyoma Papillary thyroid carcinoma Esophageal neoplasm Recurrent singultus Barrett esophagus Retinoblastoma Abnormality of the neck Abnormality of the voice Abnormal intestine morphology Obesity Cutaneous amyloidosis Medullary thyroid carcinoma Teratoma Back pain Neoplasm of the endocrine system Thyroiditis Amyloidosis Aganglionic megacolon Ovarian papillary adenocarcinoma Non-Hodgkin lymphoma Dysgerminoma Ovarian carcinoma Hodgkin lymphoma Ovarian neoplasm Cortical tubers Ungual fibroma Hyperactivity Renal cyst CNS hypomyelination Subcutaneous nodule Abnormal pulmonary valve morphology Cardiomegaly Generalized-onset seizure Cerebral calcification Specific learning disability Focal-onset seizure Brain atrophy Gliosis Hypopigmentation of the skin Precocious puberty Retinal detachment Abnormality of the cerebral white matter Stroke Attention deficit hyperactivity disorder Skin rash Autistic behavior Abnormality of the kidney Dyspnea Autism Glaucoma Polycystic kidney dysplasia Nephroblastoma Dental enamel pits Fibroma Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Premature chromatid separation Ependymoma Shagreen patch Flank pain Adenoma sebaceum Chylothorax Infantile spasms Gingival fibromatosis Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Hyperventilation Hamartoma Duodenal ulcer Lack of skin elasticity Bladder neoplasm Short neck Pectus excavatum Hernia Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Short nose Abnormality of the dentition Myopathy Edema Cardiomyopathy Respiratory insufficiency Inguinal hernia Ventriculomegaly Ventricular septal defect Frontal bossing Downslanted palpebral fissures Macrocephaly Myopia Dysarthria Epicanthus Motor delay Delayed speech and language development Abnormal heart morphology Delayed skeletal maturation Ptosis Hypertrophic cardiomyopathy Joint hyperflexibility Pulmonic stenosis Hypermetropia Arthrogryposis multiplex congenita Pectus carinatum Sparse hair Wide mouth Postnatal growth retardation Low-set, posteriorly rotated ears Joint laxity Abnormality of the nervous system Pes cavus Hypoglycemia Coarse facial features Osteopenia Polyhydramnios Proptosis Hyperkeratosis Cerebral cortical atrophy Hypogonadism Osteoporosis Posteriorly rotated ears Severe short stature Cognitive impairment Muscular hypotonia Joint hypermobility Round face Limited elbow extension Opisthotonus 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Scaling skin Abnormal autonomic nervous system physiology Elbow flexion contracture Sensorimotor neuropathy Lumbar hyperlordosis Abnormality of the foot Trismus Carious teeth Protruding ear Hyperlordosis Camptodactyly Facial palsy Clinodactyly Syndactyly Peripheral neuropathy Flexion contracture Muscle weakness Thoracolumbar scoliosis Excessive salivation Strabismus Upper limb undergrowth Nystagmus Generalized hypotonia Short stature Global developmental delay Choroid plexus carcinoma Osteosarcoma Broad ribs Choanal stenosis Broad neck Papilledema Loss of consciousness Unexplained fevers Increased intracranial pressure Sleep apnea Hypertrichosis Delayed eruption of teeth Hydronephrosis High forehead Micropenis Pneumonia Depressivity Midface retrusion Cold-induced sweating Astigmatism Tachycardia Capillary malformation Severe postnatal growth retardation Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Verrucae Soft skin Neonatal hypoglycemia Arnold-Chiari type I malformation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Large forehead Central apnea Keratoconus Schwannoma Triangular mouth Melena Hematemesis Deep plantar creases Thin nail Large face Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Broad femoral neck Abnormality of the testis Rhabdomyosarcoma Hyperextensibility of the finger joints Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Curly hair Reduced subcutaneous adipose tissue Wide nose Eczema Lymphedema Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Apraxia Mitral valve prolapse Overgrowth Abnormality of the hair Hip dysplasia Abnormality of the skin Growth hormone deficiency Webbed neck Premature birth Sepsis Tetraplegia Postural instability High, narrow palate Hematuria Thick vermilion border Hydrops fetalis Pointed chin Neurodevelopmental delay Pyloric stenosis Large for gestational age Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Pleural effusion Failure to thrive in infancy Redundant skin Hyperextensible skin Narrow palate Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Increased body mass index



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Growth hormone deficiency, related diseases and genetic alterations Edema and Increased body weight, related diseases and genetic alterations Cardiomyopathy and Umbilical hernia, related diseases and genetic alterations Cataract and Hepatic steatosis, related diseases and genetic alterations Anemia and Hydronephrosis, related diseases and genetic alterations Carcinoma and Epicanthus, related diseases and genetic alterations

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