Carcinoma, and Dystonia
Diseases related with Carcinoma and Dystonia
In the following list you will find some of the most common rare diseases related to Carcinoma and Dystonia that can help you solving undiagnosed cases.
Top matches:
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 PROTEINOSISMedium match ATAXIA-TELANGIECTASIA
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
SOURCES: ORPHANET OMIM MENDELIAN
More info about ATAXIA-TELANGIECTASIALow match RENAL CELL CARCINOMA, NONPAPILLARY; RCC
The Heidelberg histologic classification of renal cell tumors subdivides renal cell tumors into benign and malignant parenchymal neoplasms and, where possible, limits each subcategory to the most common documented genetic abnormalities (Kovacs et al., 1997). Malignant tumors are subclassified into common or conventional renal cell carcinoma (clear cell); papillary renal cell carcinoma; chromophobe renal cell carcinoma; collecting duct carcinoma, with medullary carcinoma of the kidney; and unclassified renal cell carcinoma. The common or conventional type accounts for about 75% of renal cell neoplasms and is characterized genetically by a highly specific deletion of chromosome 3p. Papillary renal cell carcinoma (see {605074}) accounts for about 10% of renal cell tumors. Chromophobe renal cell carcinoma accounts for approximately 5% of renal cell neoplasms. Genetically, chromophobe RCC is characterized by a combination of loss of heterozygosity of chromosomes 1, 2, 6, 10, 13, 17, and 21 and hypodiploid DNA content. Collecting duct carcinoma accounts for about 1% of renal cell carcinoma.Renal cell carcinoma occurs nearly twice as often in men as in women; incidence in the United States is equivalent among whites and blacks. Cigarette smoking doubles the likelihood of renal cell carcinoma and contributes to as many as one-third of cases. Obesity is also a risk factor, particularly in women. Other risk factors include hypertension, unopposed estrogen therapy, and occupational exposure to petroleum products, heavy metals, or asbestos (summary by Motzer et al., 1996).
RENAL CELL CARCINOMA, NONPAPILLARY; RCC Is also known as hypernephroma|adenocarcinoma of kidney
Related symptoms:
- Neoplasm
- Hypertension
- Obesity
- Carcinoma
- Falls
SOURCES: OMIM ORPHANET MENDELIAN
More info about RENAL CELL CARCINOMA, NONPAPILLARY; RCC
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Other less relevant matches:
Low match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Xeroderma pigmentosum is a genetically heterogeneous condition characterized by increased sensitivity to ultraviolet (UV) irradiation and increased risk of skin cancer resulting from a defect in DNA repair. XPC is the most common form of XP in the white population, accounting for over a third of all cases in this group (review by Li et al., 1993).For a general discussion of xeroderma pigmentosum, see XPA (OMIM ).
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC Is also known as xp, group c|xp3|xpcc|xeroderma pigmentosum iii
Related symptoms:
- Neoplasm
- Hyperactivity
- Photophobia
- Carcinoma
- Abnormality of the nervous system
More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
Low match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME
Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).
PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato
Related symptoms:
- Neoplasm
- Hepatomegaly
- Dysphagia
- Edema
- Hernia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROMELow match PORPHYRIA CUTANEA TARDA
Porphyria cutanea tarda (PCT) is characterized by light-sensitive dermatitis and the excretion of large amounts of uroporphyrin in urine (Elder et al., 1980).De Verneuil et al. (1978) and others classified porphyria cutanea tarda, the most common type of porphyria, into 2 types: type I (OMIM ), or 'sporadic' type, associated with approximately 50% level of uroporphyrinogen decarboxylase (UROD) in liver (Elder et al., 1978; Felsher et al., 1982), and type II, or 'familial' type, characterized by 50% deficient activity of the same enzyme in many tissues (Kushner et al., 1976; Elder et al., 1980).PCT type II is an autosomal dominant disorder with low penetrance and constitutes about 20% of cases of PCT. Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (OMIM ) that are responsible for hereditary hemochromatosis (OMIM ) (review by Lambrecht et al., 2007).
PORPHYRIA CUTANEA TARDA Is also known as uroporphyrinogen decarboxylase deficiency|pct|pct, type ii|pct, 'familial' type|urod deficiency|porphyria cutanea tarda, type ii|porphyria, hepatocutaneous type
Related symptoms:
- Anemia
- Edema
- Alopecia
- Carcinoma
- Erythema
SOURCES: OMIM ORPHANET MENDELIAN
More info about PORPHYRIA CUTANEA TARDALow 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 ABETALIPOPROTEINEMIALow match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004).
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease
Related symptoms:
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
- Sensorineural hearing impairment
More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1
Low match HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS
Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.
HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
SOURCES: OMIM ORPHANET MENDELIAN
More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUSLow match GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY
Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.
GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency
Related symptoms:
- Intellectual disability
- Seizures
- Hypertelorism
- Strabismus
- Low-set ears
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCYTop 5 symptoms//phenotypes associated to Carcinoma and Dystonia
| Symptoms // Phenotype | % cases |
|---|---|
| Neoplasm | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Hepatocellular carcinoma | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Abnormality of the liver | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Carcinoma and Dystonia. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Strabismus Renal cell carcinoma Anemia
Rare Symptoms - Less than 30% cases
Reduced tendon reflexes Flexion contracture Rod-cone dystrophy Short stature Ataxia Nystagmus Diarrhea Failure to thrive Agenesis of corpus callosum Spasticity Cognitive impairment Hepatic failure Global developmental delay Tremor Gait disturbance Cirrhosis Hepatic steatosis Abnormality of movement Lymphoma Hepatitis Renal neoplasm Fat malabsorption Telangiectasia Cerebral palsy Melanoma Peripheral neuropathy Cutaneous photosensitivity Abnormal blistering of the skin Edema Thickened skin Recurrent respiratory infections Respiratory tract infection Oral-pharyngeal dysphagia Alopecia Hyperkeratosis Fragile skin Clear cell renal cell carcinoma Squamous cell carcinoma Hepatomegaly Dysphagia Abnormality of the nervous system Hypopigmented skin patches Generalized hirsutism Skin vesicle Hyperpigmentation of the skin Thin skin Scleroderma Atypical scarring of skin Onycholysis Parakeratosis Anemia of inadequate production Alcoholism Congenital hypoplastic anemia Facial hypertrichosis Viral hepatitis Hypertrichosis Porphyrinuria Hyperpigmentation in sun-exposed areas Muscular hypotonia Visual impairment Fever Thrombocytopenia Defective DNA repair after ultraviolet radiation damage Inflammatory abnormality of the skin Hemolytic anemia Hernia Esophageal stricture Hiatus hernia Poor appetite Esophagitis Follicular hyperkeratosis Poor suck Oral leukoplakia Hypergranulosis Palmoplantar hyperkeratosis Epidermal acanthosis Gastrointestinal hemorrhage Ectodermal dysplasia Ascites Postural instability Stomach cancer Palmoplantar keratoderma Sudden cardiac death Abnormal large intestine morphology Weight loss Abnormality of the mouth Gastroesophageal reflux Skin rash Erythema Esophageal leukoplakia Abnormality of esophagus physiology Nausea and vomiting Esophageal carcinoma Esophageal neoplasm Diffuse palmoplantar hyperkeratosis Abnormality of the mediastinum Clubbing of toes Plantar hyperkeratosis Malabsorption Splenomegaly Retinal degeneration Spastic paraplegia Adducted thumb Increased intracranial pressure Holoprosencephaly Spastic paraparesis Paraparesis Paraplegia Abnormal pyramidal sign Absent septum pellucidum Joint stiffness Coarse facial features Dilatation Intellectual disability, severe Hydrocephalus Ventriculomegaly Macrocephaly Hemiplegia/hemiparesis Aqueductal stenosis Intrahepatic cholestasis with episodic jaundice Abnormality of metabolism/homeostasis Heterotopia Aciduria Asthma Bruising susceptibility Intellectual disability, moderate Acidosis Intellectual disability, mild Flexion contracture of thumb Behavioral abnormality Talipes equinovarus Hyperreflexia Low-set ears Hypertelorism Noncommunicating hydrocephalus Corticospinal tract hypoplasia Generalized hypotonia Increased serum bile acid concentration Peripheral demyelination Steatocystoma multiplex Pes cavus Areflexia Squamous cell carcinoma of the skin Sensorineural hearing impairment Growth delay Hearing impairment Increased HDL cholesterol concentration Jaundice Abetalipoproteinemia Decreased LDL cholesterol concentration Hypocholesterolemia Acanthocytosis Abnormality of the coagulation cascade Abnormality of retinal pigmentation Chronic diarrhea Severe short stature Hepatosplenomegaly Civatte bodies Malnutrition Vitamin E deficiency Intermittent jaundice Conjugated hyperbilirubinemia Intrahepatic cholestasis Thrombocytosis Steatorrhea Congenital sensorineural hearing impairment Pruritus Pancreatitis Hyperbilirubinemia Hepatic fibrosis Cholestasis Neuronal loss in central nervous system Sepsis Ophthalmoplegia Cutaneous melanoma Fibrosarcoma Entropion Neurological speech impairment Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of eye movement Delayed puberty Leukemia Chorea Distal muscle weakness Anxiety Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Progressive cerebellar ataxia Decreased antibody level in blood Pneumonia Sinusitis Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Abnormal vertebral morphology Cafe-au-lait spot Apraxia Limb ataxia Bronchiectasis Choreoathetosis Intention tremor Pancytopenia Type II diabetes mellitus Myoclonus Recurrent infections Slurred speech Cerebral calcification Acne Oligodontia Hoarse voice Hallucinations Subcutaneous nodule Thick lower lip vermilion Memory impairment Pustule Papule Scarring Aggressive behavior Absent speech Respiratory distress High palate Alopecia of scalp Delusions Immunodeficiency Bilateral intracranial calcifications Cerebellar atrophy Skeletal muscle atrophy Dysarthria Muscle weakness Scoliosis Microcephaly Tongue nodules Microglossia Hoarse cry Abnormality of the gingiva Patchy alopecia Paranoia Abnormal oral mucosa morphology Nasal polyposis Verrucae Breast carcinoma Polycystic ovaries Poikiloderma IgE deficiency Nephroblastoma Renal cyst Falls Obesity Hypertension Defective B cell differentiation Interosseus muscle atrophy Retinoblastoma Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Non-Hodgkin lymphoma Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Polycythemia Papillary renal cell carcinoma Female hypogonadism Neoplasm of the skin Freckling Basal cell carcinoma Keratitis Ectropion Systemic lupus erythematosus Dermal atrophy Conjunctivitis Burkitt lymphoma Hypopigmentation of the skin Photophobia Hyperactivity Hemangioblastoma Cerebellar hemangioblastoma Small cell lung carcinoma Increased sensitivity to ionizing radiation Chronic hepatitis Spinal muscular atrophy Telangiectasia of the skin Hypopigmentation of hair Hodgkin lymphoma IgA deficiency Prematurely aged appearance Myeloid leukemia Abnormality of the immune system Multiple cafe-au-lait spots Severe combined immunodeficiency Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Acute lymphoblastic leukemia Recurrent lower respiratory tract infections Decreased proportion of CD4-positive T cells Cellular immunodeficiency Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Abnormality of chromosome stability Chronic lymphatic leukemia Chromosome breakage Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Lymphoproliferative disorder Abnormality of the testis B-cell lymphoma Recurrent bronchitis Poor coordination
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hyperactivity, related diseases and genetic alterations Low-set ears and Hirsutism, related diseases and genetic alterations Cardiomyopathy and Syndactyly, related diseases and genetic alterations Strabismus and Bifid uvula, related diseases and genetic alterations Hypertension and Optic atrophy, related diseases and genetic alterations Global developmental delay and Sensory impairment, related diseases and genetic alterations
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