Hyperreflexia, and Pheochromocytoma

Diseases related with Hyperreflexia and Pheochromocytoma

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

Top matches:

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

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

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Other less relevant matches:

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

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

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

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

Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match ACROMEGALY

Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Paraganglioma Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neurofibromas Dysphonia Mitral regurgitation Arrhythmia Carcinoma Abnormality of the dentition Frontal bossing Fatigue Congestive heart failure Extraadrenal pheochromocytoma Conductive hearing impairment Hypertension associated with pheochromocytoma Palpitations Vocal cord paralysis Growth delay Tachycardia Recurrent paroxysmal headache Adrenal pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Short stature

Rare Symptoms - Less than 30% cases

Positive regitine blocking test Blindness Paroxysmal vertigo Visual impairment Nystagmus Ataxia Elevated urinary norepinephrine Global developmental delay Leiomyosarcoma Migraine Facial asymmetry Asymmetric growth Hemihypertrophy Aplasia/Hypoplasia of the cerebellum Overgrowth Cafe-au-lait spot Hydrocephalus Papillary cystadenoma of the epididymis Hemangioma Elevated urinary dopamine Capillary hemangioma Bicuspid aortic valve Neoplasm of the endocrine system Retinopathy Paraganglioma of head and neck Cerebral hemorrhage Hoarse voice Tremor Weight loss Proteinuria Pallor Nausea Hematuria Chest pain Hypercalcemia Glomerulosclerosis Generalized muscle weakness Renal cell carcinoma Elevated urinary epinephrine Ophthalmoplegia Aniridia Episodic abdominal pain Hypertrophic cardiomyopathy Flushing Sinus tachycardia Cranial nerve compression Hypertensive retinopathy Panic attack Episodic hyperhidrosis Retinal capillary hemangioma Exotropia Intellectual disability Coarctation of aorta Cryptorchidism Agenesis of corpus callosum EEG abnormality Syndactyly Recurrent fractures Dysphagia Iris coloboma Flexion contracture Glaucoma Respiratory tract infection Ptosis Abnormality of the kidney Cataract Failure to thrive Generalized hypotonia Hearing impairment Microcephaly Scoliosis Muscular hypotonia Coloboma Sensory neuropathy Arachnoid hemangiomatosis Prominent occiput Abnormality of dental morphology Melanocytic nevus Rickets Precocious puberty Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Multicystic kidney dysplasia Plagiocephaly Sensorineural hearing impairment Dandy-Walker malformation Horseshoe kidney Hemiplegia/hemiparesis Increased intracranial pressure Gait disturbance Visual loss Neurological speech impairment Pachygyria Nevus Hypopigmentation of the skin Polycystic kidney dysplasia Cerebral calcification Nausea and vomiting Retinal detachment Vertebral segmentation defect Dilatation of the cerebral artery Elevated calcitonin Nevus sebaceous Chronic obstructive pulmonary disease Linear nevus sebaceous Odontogenic neoplasm Odontoma Chemodectoma Glomus jugular tumor Hypoplastic right heart Abnormality of toe Loss of voice Elevated circulating catecholamine level Vagal paraganglioma Glomus tympanicum paraganglioma Pulmonary chondroma Gastric leiomyosarcoma Epidermal nevus Basal cell carcinoma Abnormality of finger Biparietal narrowing Osteomalacia Irregular hyperpigmentation Multiple renal cysts Genu recurvatum Gangrene Hyperphosphaturia Hemimegalencephaly Hypophosphatemic rickets Porencephalic cyst Cavernous hemangioma Adenoma sebaceum Abnormality of dental color Cranial asymmetry Telangiectasia of the skin Abnormality of the cerebral vasculature Arteriovenous malformation Impotence Osteopenia Broad foot Growth hormone excess Joint swelling Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Large hands Abnormality of the endocrine system Acne Growth abnormality Sleep apnea Cerebral palsy Widely spaced teeth Acanthosis nigricans Abnormality of the fingernails Abnormal toenail morphology Dysuria Abnormality of the nervous system Dilatation Microphthalmia Talipes equinovarus Hepatomegaly Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Alopecia Deep palmar crease Dysmenorrhea Pituitary prolactin cell adenoma Deep plantar creases Galactorrhea Kyphoscoliosis Hypersomnia Long penis Anterior hypopituitarism Generalized hirsutism Thickened skin Ventriculomegaly Neuroendocrine neoplasm Albuminuria Telecanthus Raynaud phenomenon Congenital cataract Abnormality of the eye Neoplasm of the middle ear Vascular neoplasm Abnormality of the lymphatic system Episodic hypertension Attention deficit hyperactivity disorder Visceral angiomatosis Pancreatic cysts Abnormality of the pancreas Abnormality of the retinal vasculature Corneal opacity Talipes Ichthyosis Renal artery stenosis Vertigo Neoplasm of the lung Paresthesia Osteoarthritis Thick lower lip vermilion Full cheeks Macroglossia Tapered finger Wide nose Long face Synophrys Kyphosis Broad forehead Anxiety Coarse facial features Arthralgia Macrotia Mandibular prognathia Diabetes mellitus Depressivity Tall stature Leukodystrophy Emphysema Wide anterior fontanel Delayed cranial suture closure Broad hallux Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Spina bifida occulta Narrow palate Low anterior hairline Stereotypy Congenital glaucoma Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Aganglionic megacolon Low posterior hairline Convex nasal ridge Otitis media Prominent nose Truncal obesity Dislocated radial head Hypoplasia of the maxilla Dyslexia Broad distal phalanx of finger Rhabdomyosarcoma Nasolacrimal duct obstruction Abnormal cornea morphology Medulloblastoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Meningioma Neuroblastoma Short attention span Hypoplastic iliac wing Low hanging columella Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Dental malocclusion Single transverse palmar crease Tethered cord Respiratory distress Delayed skeletal maturation Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Hypospadias Immunodeficiency Behavioral abnormality Atrial septal defect Ventricular septal defect Constipation Downslanted palpebral fissures Wide nasal bridge Epicanthus Delayed speech and language development High palate Low-set ears Abnormal facial shape Strabismus Micrognathia Clinodactyly of the 5th finger Hyperactivity Highly arched eyebrow Intellectual disability, moderate Hirsutism Thick eyebrow Joint hypermobility Unsteady gait Pulmonic stenosis Leukemia Postnatal growth retardation Abnormality of the pinna Feeding difficulties in infancy Joint laxity Polydactyly Deeply set eye Thin upper lip vermilion Pes planus Retrognathia Gastroesophageal reflux Polyhydramnios Proptosis Autism Narrow mouth Phonophobia Facial grimacing Cranial nerve paralysis Neonatal hypotonia Pigmentary retinopathy Increased serum lactate Generalized myoclonic seizures Tetraplegia Lactic acidosis Dilated cardiomyopathy Developmental regression Proximal muscle weakness Acidosis Congenital hip dislocation Respiratory failure Myoclonus Dementia Babinski sign Absent speech Dystonia Hypertonia Diarrhea Vomiting Spastic tetraplegia Exercise intolerance Cardiomyopathy Increased intramyocellular lipid droplets Postural instability Dyspnea Pain Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Hemolytic-uremic syndrome External ophthalmoplegia Left ventricular noncompaction Ketonuria Preeclampsia Ketosis Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability Ragged-red muscle fibers Leukoencephalopathy Myopathy Optic atrophy Abnormality of the cervical spine Vascular ring Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Duplication of phalanx of hallux Abnormal number of teeth Dyscalculia Chorioretinal dystrophy Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina High axial triradius Radial deviation of thumb terminal phalanx Motor delay Communicating hydrocephalus Cognitive impairment Spasticity Muscle weakness Hemiareflexia Hemifacial hypertrophy Embryonal neoplasm Hepatoblastoma Asymmetry of the thorax Adrenocortical adenoma Myelomeningocele Plantar crease between first and second toes Increased circulating cortisol level Impaired pain sensation Multiple lipomas Skeletal muscle hypertrophy Nephroblastoma Inguinal hernia Hernia Abnormality of cardiovascular system morphology Intellectual disability, mild Nevus sebaceus


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