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 PROTEINOSIS

Medium 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-TELANGIECTASIA

Low 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). Genetic Heterogeneity of Renal Cell CarcinomaGermline mutation resulting in nonpapillary renal cell carcinoma of the clear cell and chromophobe type occurs in the HNF1A gene (OMIM ) and the HNF1B gene (OMIM ).Somatic mutations in renal cell carcinomas occur in the VHL gene (OMIM ), the TRC8 gene (OMIM ), the OGG1 gene (OMIM ), the ARMET gene (OMIM ), the FLCN gene (OMIM ), and the BAP1 gene (OMIM ).See also RCCX1 (OMIM ) for a discussion of renal cell carcinoma associated with translocations of chromosome Xp11.2 involving the TFE3 gene (OMIM ).For a discussion of papillary renal cell carcinoma, see RCCP1 (OMIM ). Occurrence of Renal Cell Carcinoma in Other DisordersVon Hippel-Lindau syndrome (OMIM ) is a familial multicancer syndrome in which there is a susceptibility to a variety of neoplasms, including renal cell carcinoma of clear cell histology and renal cysts. A syndrome of predisposition to uterine leiomyomas and papillary renal cell carcinoma has been reported (OMIM ). Medullary carcinoma of the kidney is believed to arise from the collecting ducts of the renal medulla and is associated with sickle cell trait (OMIM ) (Kovacs et al., 1997). Renal cell carcinoma occurs in patients with the Birt-Hogg-Dube syndrome (OMIM ).Bertolotto et al. (2011) identified a missense mutation in the MITF (OMIM ) gene that increases the risk of renal cell carcinoma with or without malignant melanoma (CMM8 ).

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


SOURCES: OMIM MESH MENDELIAN

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 SYNDROME

Low 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 TARDA

Low 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

Low 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). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

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


SOURCES: OMIM MENDELIAN

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 SYLVIUS

Low 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 DEFICIENCY

Top 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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