Carcinoma, and Sensory neuropathy

Diseases related with Carcinoma and Sensory neuropathy

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

Top matches:

Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias (see this term). It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations.

ACUTE INTERMITTENT PORPHYRIA Is also known as ups deficiency|porphyria, swedish type|pbgd deficiency|porphobilinogen deaminase deficiency|uroporphyrinogen synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACUTE INTERMITTENT PORPHYRIA

High match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Medium match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Other less relevant matches:

Medium match ABETALIPOPROTEINEMIA

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

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

Medium match PORPHYRIA VARIEGATA

Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions.

PORPHYRIA VARIEGATA Is also known as variegate porphyria|ppox deficiency|porphyria, south african type|protoporphyrinogen oxidase deficiency|vp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA VARIEGATA

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

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Medium match TYROSINEMIA TYPE 1

Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

TYROSINEMIA TYPE 1 Is also known as hepatorenal tyrosinemia|fumarylacetoacetase deficiency|fah deficiency|fumarylacetoacetate hydrolase deficiency|tyrosinemia type i

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about TYROSINEMIA TYPE 1

Multiple endocrine neoplasia type IIB (MEN2B) is an autosomal dominant hamartoneoplastic syndrome characterized by aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal neuromas, and thickened corneal nerves. Most affected individuals have characteristic physical features, including full lips, thickened eyelids, high-arched palate, and marfanoid habitus. Other more variable features include skeletal anomalies and gastrointestinal problems (review by Morrison and Nevin, 1996).For a discussion of genetic heterogeneity of multiple endocrine neoplasia (MEN), see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B Is also known as men iib|multiple endocrine neoplasia, type iii, formerly|wagenmann-froboese syndrome|men3, formerly|neuromata, mucosal, with endocrine tumors

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B

Top 5 symptoms//phenotypes associated to Carcinoma and Sensory neuropathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Constipation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Vomiting Neoplasm Nausea and vomiting Abdominal pain Hepatocellular carcinoma Depressivity Anxiety Muscle weakness Global developmental delay Fever Tachycardia Hallucinations Intellectual disability Thick lower lip vermilion Scoliosis Muscular hypotonia Malabsorption Hepatic failure Nausea Irritability Paresthesia Renal insufficiency Anemia Hypertension Behavioral abnormality Hyperhidrosis Paralysis

Rare Symptoms - Less than 30% cases

Developmental regression Glomerulosclerosis Coarse facial features Peripheral demyelination Dilatation Stroke Gastrointestinal hemorrhage Abnormal autonomic nervous system physiology Anteverted nares Renal cell carcinoma Depressed nasal bridge High palate Subcutaneous nodule Headache Aciduria Leiomyosarcoma Edema Abnormality of cardiovascular system morphology Abnormality of the kidney Thick eyebrow Hypertrophic cardiomyopathy Acute hepatic failure Neoplasm of the liver Neurofibromas Short stature Renal tubular dysfunction Growth delay Confusion Achalasia Thick vermilion border Cardiomyopathy Pheochromocytoma Fatigue Hypertonia Abdominal distention Insomnia Agitation Clinodactyly Hyperlipidemia Chronic kidney disease Anorexia Cutaneous photosensitivity Psychosis Urinary incontinence Coma Unexplained fevers Nephropathy Stage 5 chronic kidney disease Lethargy Myalgia Hepatosplenomegaly Arthralgia Weight loss Arrhythmia Intellectual disability, mild Ileus Abnormality of the skeletal system Elevated urinary delta-aminolevulinic acid Gait disturbance Failure to thrive Ataxia Hyperlordosis Abnormality of the liver Visual impairment Flexion contracture Paralytic ileus Hypertrichosis Long philtrum Thin skin Carious teeth Abnormal blistering of the skin Tetraplegia Hypopigmentation of the skin Kyphoscoliosis Apnea Facial palsy Scarring Syndactyly Feeding difficulties Camptodactyly Restlessness Protruding ear Abnormality of the foot Dark urine Porphyrinuria Motor polyneuropathy Micrognathia Visual hallucinations Round face Premature adrenarche Lumbar hyperlordosis Fragile skin Milia Feeding difficulties in infancy Hypopigmented skin patches Low-set ears Aspiration Full cheeks Abnormality of the dentition Nystagmus Abnormality of movement Hypocholesterolemia Fat malabsorption Acanthocytosis Abnormality of the coagulation cascade Reduced tendon reflexes Abnormality of retinal pigmentation Chronic diarrhea Hepatic steatosis Retinal degeneration Rod-cone dystrophy Abetalipoproteinemia Thrombocytopenia Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Decreased LDL cholesterol concentration Increased HDL cholesterol concentration Hemiareflexia Increased circulating cortisol level Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Communicating hydrocephalus Myelomeningocele Impaired pain sensation Steatocystoma multiplex Multiple lipomas Skeletal muscle hypertrophy Nephroblastoma Bicuspid aortic valve Overgrowth Facial asymmetry Inguinal hernia Hernia Hydrocephalus Cryptorchidism Sensorimotor neuropathy Paranoia Elbow flexion contracture Myopathy Abnormality of the skin Polyneuropathy High, narrow palate Joint laxity Photophobia Proptosis Pes cavus Visual loss Pectus excavatum Kyphosis Ptosis Aganglionic megacolon Abnormal facial shape Generalized hypotonia Episodic peripheral neuropathy Rickets of the lower limbs Hepatic necrosis Hypermethioninemia Elevated alpha-fetoprotein Renal Fanconi syndrome Hypertyrosinemia Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Hemiparesis Cafe-au-lait spot Periodic paralysis Schizencephaly Ganglioneuromatosis Prominent corneal nerve fibers Inguinal freckling Elevated urinary epinephrine Subcutaneous neurofibromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Nodular goiter Elevated calcitonin Ganglioneuroma Goiter Colonic diverticula Medullary thyroid carcinoma Lisch nodules Parathyroid hyperplasia Thyroid carcinoma Neoplasm of the endocrine system Flushing Freckling Disproportionate tall stature Acne Failure to thrive in infancy Generalized aminoaciduria Hypophosphatemic rickets Poor suck Cerebral atrophy Pancreatitis Gliosis Postaxial polydactyly Smooth philtrum Mental deterioration Thin upper lip vermilion Polydactyly Abnormal heart morphology Encephalopathy Hypospadias Epicanthus Alkalosis Spasticity Cold-induced sweating Excessive salivation Trismus Thoracolumbar scoliosis Limited elbow extension Opisthotonus 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Scaling skin Hyperammonemia Episodic ataxia Self-mutilation Jaundice Enlarged kidney Axonal degeneration Abnormality of coagulation Rickets Nephrocalcinosis Abnormal bleeding Ascites Cirrhosis Elevated hepatic transaminase Hypoglycemia Splenomegaly Cerebral edema Hepatomegaly Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypoargininemia Respiratory alkalosis Oroticaciduria Left ventricular septal hypertrophy Wide nasal base Episodic vomiting Tenesmus Dysesthesia Tortuosity of conjunctival vessels Corneal opacity Sudden cardiac death Chest pain Muscle cramps Hematuria Bulbous nose Vertigo Delayed puberty Abnormality of the cerebral white matter Pruritus Papule Prominent nasal bridge Hypotension Cough Skin rash Abnormality of the nervous system Proteinuria Arthritis Mandibular prognathia Dyspnea Hypothyroidism Hyperkeratosis Posteriorly rotated ears Syncope Abnormality of the cardiovascular system Congestive heart failure Spontaneous abortion Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Purpura Aminoaciduria Exercise intolerance Fasciculations Mitral valve prolapse Bradycardia Lymphedema Hypohidrosis Left ventricular hypertrophy Abnormal lung morphology Mitral regurgitation Palpitations Myocardial infarction Atrial fibrillation Ventricular hypertrophy Nephrotic syndrome Midface retrusion Respiratory insufficiency Tinnitus Respiratory paralysis Increased intracranial pressure Memory impairment Migraine Dyskinesia Neurological speech impairment Attention deficit hyperactivity disorder Abnormal pyramidal sign Dysarthria Acute episodes of neuropathic symptoms Red urine Hypertensive crisis Hemiplegia/hemiparesis Psychotic episodes Delirium Abnormal urinary color Diaphragmatic paralysis Urinary retention Dysuria Apathy Hyponatremia Cranial nerve paralysis Paraparesis Breast carcinoma Basal cell carcinoma Optic atrophy Neoplasm of the thyroid gland Cognitive impairment Cataract Sensorineural hearing impairment Hearing impairment Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Agnosia Visual field defect Glioblastoma multiforme Pancreatic adenocarcinoma Amaurosis fugax Dysgraphia Prostate cancer Intestinal polyposis Pituitary adenoma Neoplasm of the pancreas Ovarian neoplasm Neuroblastoma Colon cancer Ventricular arrhythmia Easy fatigability Hyperkeratotic papule Abnormal thrombosis Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormal cornea morphology Abnormality of the renal tubule Tubulointerstitial fibrosis Retinal vascular tortuosity Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Vascular skin abnormality Corneal crystals Restrictive cardiomyopathy Angiokeratoma corporis diffusum Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Shortened QT interval Limb pain Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Abnormal myocardium morphology Abnormality of the nose Atrioventricular block Emphysema Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Anhidrosis Abnormal heart valve morphology Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Personality changes Polydipsia Hemiplegia Abnormality of the hand Prominent supraorbital ridges Glomerulopathy Glycosuria Abnormality of femur morphology Large earlobe Chronic fatigue Myocardial fibrosis Sinus bradycardia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Oligospermia Renal tubular acidosis Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Multiple mucosal neuromas


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Behavioral abnormality, related diseases and genetic alterations Myopia and Hypoglycemia, related diseases and genetic alterations Hyperreflexia and Alopecia, related diseases and genetic alterations Hydrocephalus and Severe short stature, related diseases and genetic alterations Nystagmus and Joint laxity, related diseases and genetic alterations