Carcinoma, and Peripheral neuropathy

Diseases related with Carcinoma and Peripheral neuropathy

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


Top 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

Medium 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

Medium match ACUTE INTERMITTENT PORPHYRIA


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

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Other less relevant matches:

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

Medium 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

Medium match ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO


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

Medium 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

Low match MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB; MEN2B


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

Low 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

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Constipation Hepatocellular carcinoma Vomiting Scoliosis Global developmental delay Hallucinations Cutaneous photosensitivity Paralysis Anxiety Abdominal pain Fever Nausea and vomiting Depressivity Irritability Failure to thrive Anemia Ataxia Hepatic failure Muscular hypotonia

Rare Symptoms - Less than 30% cases


Psychosis Coma Tachycardia Nausea Paresthesia Aciduria Lethargy Hepatosplenomegaly Agitation Weight loss Hyperhidrosis Renal insufficiency Hypertonia Arthralgia Ileus Insomnia Freckling Mental deterioration Spasticity Hyperlordosis Photophobia Anteverted nares Depressed nasal bridge High palate Flexion contracture Neoplasm of the liver Hypopigmented skin patches Fatigue Thin skin Confusion Thick lower lip vermilion Acute hepatic failure Developmental regression Clinodactyly Abnormality of the skeletal system Growth delay Short stature Paralytic ileus Behavioral abnormality Elevated urinary delta-aminolevulinic acid Hypertension Neurofibromas Visual impairment Gait disturbance Abnormality of the liver Malabsorption Peripheral demyelination Reduced tendon reflexes Cryptorchidism Abnormality of the dentition Intellectual disability, mild Abnormality of cardiovascular system morphology Renal cell carcinoma Gastrointestinal hemorrhage Pheochromocytoma Leiomyosarcoma Intestinal polyposis Amaurosis fugax Dysgraphia Entropion Erythema Prostate cancer Neoplasm of the pancreas Pituitary adenoma Glioblastoma multiforme Ovarian neoplasm Neuroblastoma Colon cancer Visual field defect Pancreatic adenocarcinoma Agnosia Papilloma Ptosis Proptosis Pes cavus Visual loss Pectus excavatum Kyphosis Myopathy Abnormal facial shape Neoplasm of the thyroid gland Generalized hypotonia 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 Conjunctival telangiectasia Basal cell carcinoma Ankyloblepharon Generalized aminoaciduria Elevated alpha-fetoprotein Renal Fanconi syndrome Hypertyrosinemia Pancreatic islet-cell hyperplasia Hyperkeratosis Abnormality of the abdominal wall Periodic paralysis Hepatic necrosis Hypophosphatemic rickets Renal tubular dysfunction Self-mutilation Enlarged kidney Axonal degeneration Abnormality of coagulation Hypermethioninemia Rickets of the lower limbs Coarse facial features Defective DNA repair after ultraviolet radiation damage Hemiplegia/hemiparesis Breast carcinoma Increased intracranial pressure EEG abnormality Memory impairment Migraine Dyskinesia Episodic peripheral neuropathy Neurological speech impairment Attention deficit hyperactivity disorder Abnormal pyramidal sign Neoplasm of the eye Hypogonadism Dysarthria Craniofacial hyperostosis Telangiectasia Thickened skin Elevated urinary epinephrine Melanoma Dermal atrophy Ganglioneuromatosis Pterygium Prominent corneal nerve fibers Inguinal freckling Subcutaneous neurofibromas Multiple mucosal neuromas Neuroma Proximal femoral epiphysiolysis Abnormality of the parathyroid gland Rickets Nodular goiter Elevated calcitonin Neoplasm of the skin Hearing impairment Abnormality of extrapyramidal motor function Optic atrophy Abnormal vertebral morphology Delayed skeletal maturation Bone marrow hypocellularity Aminoaciduria Hyporeflexia Choreoathetosis Cognitive impairment Microcephaly Conjunctivitis Opacification of the corneal stroma Cataract Intellectual disability, progressive Sensorineural hearing impairment Strabismus Alopecia Schizencephaly Joint laxity Blepharitis Goiter Cafe-au-lait spot Subcutaneous nodule Aganglionic megacolon Hemiparesis Telangiectasia of the skin Abnormality of the skin Macule Cerebral cortical atrophy Poikiloderma Polyneuropathy High, narrow palate Thick vermilion border Thick eyebrow Failure to thrive in infancy Acne Ectropion Parathyroid hyperplasia Decreased testicular size Ganglioneuroma Colonic diverticula Melanocytic nevus Medullary thyroid carcinoma Lisch nodules Thyroid carcinoma Disproportionate tall stature Keratitis Achalasia Squamous cell carcinoma Neoplasm of the endocrine system Flushing Hypermelanotic macule Dry skin Thin upper lip vermilion Glomerulosclerosis Hyperlipidemia Diaphragmatic paralysis Urinary retention Dysuria Apathy Hyponatremia Cranial nerve paralysis Paraparesis Delirium Anorexia Urinary incontinence Abdominal distention Nephropathy Stage 5 chronic kidney disease Myalgia Abnormal urinary color Psychotic episodes Hemiareflexia Abnormal blistering of the skin Restlessness Fragile skin Milia Chronic kidney disease Aspiration Hypertrichosis Tetraplegia Hypertensive crisis Hypopigmentation of the skin Scarring Abnormality of the kidney Nystagmus Acute episodes of neuropathic symptoms Red urine Respiratory paralysis Arrhythmia Hemifacial hypertrophy Motor polyneuropathy Abnormality of the coagulation cascade Increased HDL cholesterol concentration Abetalipoproteinemia Decreased LDL cholesterol concentration Hypocholesterolemia Fat malabsorption Acanthocytosis Abnormality of retinal pigmentation Hydrocephalus Chronic diarrhea Hepatic steatosis Retinal degeneration Abnormality of movement Rod-cone dystrophy Thrombocytopenia Steatocystoma multiplex Hernia Embryonal neoplasm Myelomeningocele Hepatoblastoma Asymmetry of the thorax Asymmetric growth Adrenocortical adenoma Hemihypertrophy Communicating hydrocephalus Increased circulating cortisol level Inguinal hernia Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Nephroblastoma Bicuspid aortic valve Overgrowth Facial asymmetry Visual hallucinations Dark urine Nephrocalcinosis Pancreatitis Wide nasal base Episodic vomiting Cerebral edema Episodic ataxia Alkalosis Hyperammonemia Gliosis Oroticaciduria Postaxial polydactyly Smooth philtrum Stroke Polydactyly Abnormal heart morphology Encephalopathy Paranoia Respiratory alkalosis Cerebral atrophy Jaundice Abnormal bleeding Ascites Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Hypoglycemia Dilatation Hypoargininemia Splenomegaly Cardiomyopathy Hepatomegaly Low plasma citrulline Episodic ammonia intoxication Hyperglutaminemia Protein avoidance Hypospadias Headache Premature adrenarche Facial palsy Abnormality of the foot Carious teeth Protruding ear Feeding difficulties in infancy Camptodactyly Apnea Kyphoscoliosis Round face Syndactyly Long philtrum Feeding difficulties Low-set ears Micrognathia Porphyrinuria Full cheeks Lumbar hyperlordosis Edema Limited elbow extension Epicanthus Cold-induced sweating Unexplained fevers Excessive salivation Trismus Thoracolumbar scoliosis Opisthotonus Sensorimotor neuropathy 2-3 toe syndactyly Radial deviation of finger Cubitus valgus Scaling skin Poor suck Abnormal autonomic nervous system physiology Elbow flexion contracture Flat nasal alae



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Fatigue, related diseases and genetic alterations Dysarthria and Dystonia, related diseases and genetic alterations Hyperreflexia and Tachycardia, related diseases and genetic alterations Ptosis and Hypodontia, related diseases and genetic alterations Peripheral neuropathy and Muscle cramps, related diseases and genetic alterations Abnormal facial shape and Aganglionic megacolon, related diseases and genetic alterations

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