Dysarthria, and Pheochromocytoma

Diseases related with Dysarthria and Pheochromocytoma

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


Top matches:

Medium match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match PARAGANGLIOMAS 1; PGL1


Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004).The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (OMIM ). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (OMIM ).Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of ParagangliomasSee also PGL4 (OMIM ), caused by mutation in the SDHB gene (OMIM ) on chromosome 1p36; PGL3 (OMIM ), caused by mutation in the SDHC gene (OMIM ) on chromosome 1q21; PGL2 (OMIM ), caused by mutation in the SDHAF2 gene (OMIM ) on chromosome 11q13; and PGL5 (OMIM ), caused by mutation in the SDHA gene (OMIM ) on chromosome 5p15.

PARAGANGLIOMAS 1; PGL1 Is also known as paraganglioma, carotid body|glomus tumors, familial, 1|cbt1|glomus jugulare tumors|paragangliomas, familial, 1|chemodectomas|paragangliomas, familial nonchromaffin, 1|carotid body tumors|pgl|paragangliomata

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hyperhidrosis
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 1; PGL1

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

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Other less relevant matches:

Low match VON HIPPEL-LINDAU DISEASE


Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15


Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15 Is also known as coxpd15

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 15

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low 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 CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B


Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

Low match LISSENCEPHALY, X-LINKED, 1; LISX1


Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

Top 5 symptoms//phenotypes associated to Dysarthria and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Weight loss Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Paraganglioma Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Pheochromocytoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Palpitations Fatigue Tremor Ataxia Visual impairment Depressivity Adrenal pheochromocytoma Episodic paroxysmal anxiety Neurofibromas Pulsatile tinnitus Hypertension associated with pheochromocytoma Cafe-au-lait spot Extraadrenal pheochromocytoma Congestive heart failure Renal cell carcinoma Nystagmus Vocal cord paralysis Recurrent paroxysmal headache Behavioral abnormality Dysphonia Carcinoma Conductive hearing impairment Hyperhidrosis Leiomyosarcoma Pain Pituitary adenoma

Rare Symptoms - Less than 30% cases


Proteinuria Chest pain Hematuria Nausea Pallor Schwannoma Neoplasm of the endocrine system Astrocytoma Glomerulosclerosis Renal artery stenosis Dyspnea Tachycardia Hypercalcemia Intellectual disability Cerebral hemorrhage Nausea and vomiting Memory impairment Dyskinesia Irritability Poor speech Abnormal pyramidal sign Gait ataxia Spasticity Microcephaly Global developmental delay Hemangioma Hemiplegia/hemiparesis Increased intracranial pressure Migraine Neurological speech impairment Aniridia Gait disturbance Hearing impairment Paroxysmal vertigo Positive regitine blocking test Elevated urinary norepinephrine Elevated urinary dopamine Paraganglioma of head and neck Elevated urinary epinephrine Episodic hyperhidrosis Hypertensive retinopathy Cranial nerve compression Sinus tachycardia Flushing Episodic abdominal pain Panic attack Retinal capillary hemangioma Freckling Paresthesia Visual loss Sarcoma Intellectual disability, mild Attention deficit hyperactivity disorder Incoordination Breast carcinoma Precocious puberty Malabsorption Osteoporosis Abnormal facial shape Hydrocephalus Glaucoma Delayed speech and language development Ptosis Gastrointestinal hemorrhage Cognitive impairment Short stature Heart murmur Myxoid subcutaneous tumors Hypermelanotic macule Thyroid follicular hyperplasia Macule Striae distensae Growth hormone excess Bipolar affective disorder Increased circulating cortisol level Blue irides Follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Testicular neoplasm Macroorchidism Generalized hypopigmentation Follicular thyroid carcinoma Thyroid carcinoma Red hair Multiple lentigines Fibroma Pituitary prolactin cell adenoma Uterine leiomyoma Tall stature Ischemic stroke Increased CSF lactate Peripheral neuropathy Strabismus Optic atrophy Ventricular septal defect Obesity Anemia Reduced visual acuity Abnormality of the cerebral white matter Unsteady gait Tetraplegia Increased serum lactate Spastic tetraplegia Intention tremor Ragged-red muscle fibers Wolff-Parkinson-White syndrome Increased body weight Muscle weakness Fever Respiratory distress Proximal muscle weakness Myalgia Abnormality of the eye Stroke Papule Confusion Hirsutism Nevus Abnormality of the skin Muscular hypotonia Gynecomastia Cutaneous myxoma Constipation Flexion contracture Increased neuronal autofluorescent lipopigment Growth delay Granular osmiophilic deposits (GROD) in cells Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Stooped posture Auditory hallucinations Agenesis of corpus callosum Tics Visual hallucinations Involuntary movements Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Parkinsonism Motor delay Micropenis Retinal degeneration Pachygyria Type I lissencephaly Agyria Microphallus Abnormality of neuronal migration Lissencephaly Spontaneous abortion Heterotopia Muscular hypotonia of the trunk Intellectual disability, profound Narrow forehead Sloping forehead Bulbous nose Severe global developmental delay Postnatal growth retardation Abnormal cerebellum morphology Generalized tonic-clonic seizures Hypertonia Basal cell carcinoma Neoplasm of the pancreas Hepatocellular carcinoma Ovarian neoplasm Neuroblastoma Colon cancer Visual field defect Hallucinations Prostate cancer Scoliosis Hypertelorism Developmental regression Anxiety Abdominal pain Macrocephaly Intestinal polyposis Dysgraphia Mental deterioration Neoplasm of the rectum Rigidity Cerebral cortical atrophy Myoclonus Dementia Urinary tract neoplasm Cardiac diverticulum Abnormality of creatine metabolism Amaurosis fugax Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Generalized hypotonia Respiratory insufficiency Episodic hypertension Tibial pseudoarthrosis Renovascular hypertension Axillary freckling Embryonal rhabdomyosarcoma Vestibular Schwannoma Neuroma Neurofibrosarcoma Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Cerebral artery stenosis Brow ptosis Pseudoarthrosis Reduced bone mineral density Venous thrombosis Postural instability Atherosclerosis Hoarse voice Cranial nerve paralysis Spina bifida Emphysema Neoplasm of the lung Sensorimotor neuropathy Chronic obstructive pulmonary disease Bone pain Aganglionic megacolon Hypsarrhythmia Single ventricle Soft tissue sarcoma Mitral valve prolapse Complete atrioventricular canal defect Osteomalacia Tibial bowing Severe vision loss Overweight Increased reactive oxygen species production Gangrene Meningioma Pulmonary fibrosis Myocardial fibrosis Brain neoplasm Hypophosphatemia Aqueductal stenosis Parathyroid adenoma Sensory axonal neuropathy Anomalous pulmonary venous return Epigastric pain Night sweats Clitoral hypertrophy Carcinoid tumor Rhabdomyosarcoma Nasolacrimal duct obstruction Glioma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Back pain Dural ectasia Coarctation of aorta Chemodectoma Albuminuria Arteriovenous malformation Dilatation Arrhythmia Abnormality of the kidney Headache Retinal detachment Sensory neuropathy Blindness Multicystic kidney dysplasia Cardiomyopathy Polycystic kidney dysplasia Aplasia/Hypoplasia of the cerebellum Telangiectasia of the skin Multiple renal cysts Capillary hemangioma Abnormality of the cerebral vasculature Sensorineural hearing impairment Abnormality of the retinal vasculature Abnormality of the pancreas Pancreatic cysts Visceral angiomatosis Abnormality of the lymphatic system Neuroendocrine neoplasm Papillary cystadenoma of the epididymis Vascular neoplasm Neoplasm of the middle ear Multiple cafe-au-lait spots Retinopathy Congenital cataract Abnormality of the skeletal system Raynaud phenomenon Cataract Abnormality of cardiovascular system morphology Abnormality of the cardiovascular system Peripheral axonal neuropathy Glomus jugular tumor Hypoplastic right heart Loss of voice Elevated circulating catecholamine level Vagal paraganglioma Glomus tympanicum paraganglioma Pulmonary chondroma Gastric leiomyosarcoma Tetralogy of Fallot Overgrowth Specific learning disability Lymphoma Recurrent fractures Abnormality of skin pigmentation Facial asymmetry Abnormal heart morphology Genu valgum Pulmonic stenosis Pruritus Leukemia Elevated calcitonin Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Autism Hyperactivity Arachnoid hemangiomatosis Subependymal nodules



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