Ataxia, and Pheochromocytoma

Diseases related with Ataxia and Pheochromocytoma

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


Top matches:

Medium 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 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 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

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Other less relevant matches:

Low match PARAGANGLIOMAS 3; PGL3


PARAGANGLIOMAS 3; PGL3 Is also known as glomus tumors, familial, 3

Related symptoms:

  • Hyperhidrosis
  • Tachycardia
  • Palpitations
  • Hoarse voice
  • Cranial nerve paralysis


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 3; PGL3

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

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 NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match VON HIPPEL-LINDAU SYNDROME; VHL


Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about VON HIPPEL-LINDAU SYNDROME; VHL

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

Top 5 symptoms//phenotypes associated to Ataxia and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Paraganglioma Common - Between 50% and 80% cases
Neurofibromas Common - Between 50% and 80% cases
Cafe-au-lait spot Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Adrenal pheochromocytoma Pain Hypertension associated with pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Extraadrenal pheochromocytoma Recurrent paroxysmal headache Vocal cord paralysis Renal cell carcinoma Hyperhidrosis Weight loss Palpitations Visual loss Neoplasm of the endocrine system Scoliosis Seizures Retinal capillary hemangioma Hearing impairment Flushing Ptosis Hypercalcemia Elevated urinary epinephrine Elevated urinary dopamine Carcinoma Papillary cystadenoma of the epididymis Abnormal facial shape Dysphonia Capillary hemangioma Tachycardia Hydrocephalus Glaucoma Conductive hearing impairment Aganglionic megacolon

Rare Symptoms - Less than 30% cases


Loss of voice Positive regitine blocking test Hoarse voice Episodic hyperhidrosis Lisch nodules Failure to thrive Paraganglioma of head and neck Muscular hypotonia Elevated urinary norepinephrine Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor High palate Paroxysmal vertigo Hypertensive retinopathy Proptosis Hemangioma Joint laxity Neuroblastoma Overweight Diarrhea Freckling Ganglioneuroma Bone pain Thick eyebrow Panic attack Leiomyosarcoma Tremor Subcutaneous neurofibromas Fatigue Congestive heart failure Elevated circulating catecholamine level Proteinuria Glomus jugular tumor Inguinal freckling Coarctation of aorta Chemodectoma Pectus excavatum Pallor Nausea Hematuria Elevated calcitonin Chest pain Neuroma Cranial nerve paralysis Glomerulosclerosis Cerebral hemorrhage Aniridia Renal artery stenosis Episodic abdominal pain Constipation Generalized hypotonia Cranial nerve compression Sinus tachycardia Meningioma Cataract Blindness Behavioral abnormality Recurrent fractures Abnormality of the skeletal system Arrhythmia Retinal detachment Delayed speech and language development Anemia Dilatation Visual impairment Short stature Intellectual disability Abnormal heart morphology Sensorineural hearing impairment Hyperactivity Multiple renal cysts Pulmonic stenosis Autism Leukemia Pancreatic cysts Abnormality of the kidney Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Prominent corneal nerve fibers Abnormal number of teeth Abnormality of the parathyroid gland Proximal femoral epiphysiolysis Enlarged tonsils Nodular goiter Schizencephaly Colonic diverticula Medullary thyroid carcinoma Parathyroid hyperplasia Thyroid carcinoma Achalasia Disproportionate tall stature Acne Failure to thrive in infancy Dyspnea Goiter Postural instability High axial triradius Vertigo Talon cusp Flared iliac wings Phonophobia Broad distal phalanx of finger Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Dyslexia Facial grimacing Short attention span Hypoplastic iliac wing Low hanging columella Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Tethered cord Abnormality of the cervical spine Deviated nasal septum Ganglioneuromatosis Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Parietal foramina Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Subcutaneous nodule Glomus tympanicum paraganglioma Emphysema Spinal cord compression Congenital cataract Papilledema Raynaud phenomenon Subarachnoid hemorrhage Exocrine pancreatic insufficiency Albuminuria Episodic hypertension Polycythemia Fever Myoclonus Hamartoma Abdominal pain Hypokalemia Abnormality of the thorax Skin nodule Neoplasm of the pancreas Tinnitus Neoplasm of the nervous system Horner syndrome Ganglioneuroblastoma Adrenal calcification Opsoclonus Abdominal mass Elevated urinary catecholamines Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Edema Progressive visual loss Nevus Renal cyst Retinopathy Arachnoid hemangiomatosis Neoplasm of the lung Coarse facial features Chronic obstructive pulmonary disease Hemiparesis Hypoplastic right heart Vagal paraganglioma Thick lower lip vermilion Abnormality of the liver Pulmonary chondroma Abnormality of the skin Gastric leiomyosarcoma Polyneuropathy High, narrow palate Thick vermilion border Hyperlordosis Photophobia Pes cavus Hyperaldosteronism Cerebellar hemangioblastoma Renal neoplasm Facial paralysis Choroidal neovascularization Posterior uveitis Retinal neovascularization Epididymal cyst Pulmonary capillary hemangiomatosis Kyphosis Hemangioblastoma Spinal hemangioblastoma Secondary hyperaldosteronism Neoplasm of the ear Global developmental delay Myopathy Shawl scrotum Respiratory tract infection Dislocated radial head Hypsarrhythmia Sarcoma Incoordination Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Sensorimotor neuropathy Mitral valve prolapse Precocious puberty Abnormality of the cardiovascular system Tetralogy of Fallot Overgrowth Specific learning disability Gastrointestinal hemorrhage Lymphoma Abnormality of skin pigmentation Peripheral axonal neuropathy Back pain Clitoral hypertrophy Facial asymmetry Astrocytoma Renal phosphate wasting Schwannoma Glioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Parathyroid adenoma Aqueductal stenosis Brain neoplasm Sensory axonal neuropathy Myocardial fibrosis Gangrene Increased reactive oxygen species production Severe vision loss Osteomalacia Multiple cafe-au-lait spots Tibial bowing Pulmonary fibrosis Hypophosphatemia Paresthesia Genu valgum Neoplasm of the central nervous system Aplasia/Hypoplasia of the cerebellum Abnormality of the lymphatic system Visceral angiomatosis Abnormality of the pancreas Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Arteriovenous malformation Telangiectasia of the skin Hemiplegia/hemiparesis Polycystic kidney dysplasia Vascular neoplasm Increased intracranial pressure Multicystic kidney dysplasia Migraine Sensory neuropathy Nausea and vomiting Neurological speech impairment Gait disturbance Nystagmus Neuroendocrine neoplasm Neoplasm of the middle ear Malabsorption Osteoporosis Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Depressivity Hypertelorism Abnormality of cardiovascular system morphology Headache Intellectual disability, mild Cardiomyopathy Respiratory insufficiency Macrocephaly Dysarthria Peripheral neuropathy Cognitive impairment Chronic myelogenous leukemia Gastrointestinal stroma tumor Congenital glaucoma Postnatal growth retardation Hypoplasia of the maxilla Single transverse palmar crease Highly arched eyebrow Iris coloboma Hirsutism Joint hypermobility Unsteady gait Coloboma Abnormality of the pinna Prominent nose Feeding difficulties in infancy Intellectual disability, moderate Deeply set eye EEG abnormality Thin upper lip vermilion Pes planus Retrognathia Gastroesophageal reflux Dental malocclusion Otitis media Narrow mouth Narrow palate Truncal obesity Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Low anterior hairline Convex nasal ridge Wide anterior fontanel Exotropia Stereotypy Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Mitral regurgitation Low posterior hairline Polyhydramnios Polydactyly Fibular bowing Neurofibrosarcoma Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Vestibular Schwannoma Growth delay Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Microcephaly Micrognathia Agenesis of corpus callosum Respiratory distress Clinodactyly of the 5th finger Delayed skeletal maturation Patent ductus arteriosus Hypospadias Immunodeficiency Syndactyly Abnormality of the dentition Atrial septal defect Ventricular septal defect Strabismus Dysphagia Frontal bossing Downslanted palpebral fissures Wide nasal bridge Hyperreflexia Epicanthus Flexion contracture Low-set ears Cryptorchidism Multiple mucosal neuromas



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