Cognitive impairment, and Pheochromocytoma

Diseases related with Cognitive impairment and Pheochromocytoma

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


Top matches:

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 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 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 INSULINOMA


Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Related symptoms:

  • Seizures
  • Tremor
  • Fatigue
  • Behavioral abnormality
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about INSULINOMA

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


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

Low match FAMILIAL CEREBRAL CAVERNOUS MALFORMATION


Familial cerebral cavernous malformation (FCCM) is a rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages.

FAMILIAL CEREBRAL CAVERNOUS MALFORMATION Is also known as familial brain cavernous hemangioma|familial brain cavernous angioma|hereditary cerebral cavernoma|hereditary brain cavernous angioma|hereditary cerebral cavernous malformation|familial cerebral cavernoma|hereditary brain cavernous hemangioma

Related symptoms:

  • Seizures
  • Scoliosis
  • Cognitive impairment
  • Headache
  • Hemangioma


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL CEREBRAL CAVERNOUS MALFORMATION

Top 5 symptoms//phenotypes associated to Cognitive impairment and Pheochromocytoma

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

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

Uncommon Symptoms - Between 30% and 50% cases


Weight loss Congestive heart failure Fatigue Hyperhidrosis Adrenal pheochromocytoma Episodic paroxysmal anxiety Pulsatile tinnitus Cafe-au-lait spot Extraadrenal pheochromocytoma Renal cell carcinoma Neurofibromas Tremor Cerebral hemorrhage Recurrent paroxysmal headache Hypertension associated with pheochromocytoma Vocal cord paralysis Conductive hearing impairment Dysphonia Hemangioma Pain Visual impairment

Rare Symptoms - Less than 30% cases


Nausea Hematuria Chest pain Hypercalcemia Neuroma Glomerulosclerosis Sarcoma Aniridia Episodic abdominal pain Flushing Sinus tachycardia Pallor Renal artery stenosis Proteinuria Precocious puberty Pituitary prolactin cell adenoma Schwannoma Generalized muscle weakness Freckling Increased body weight Dyspnea Hypertonia Meningioma Neoplasm of the endocrine system Leiomyosarcoma Tachycardia Cranial nerve compression Neuroendocrine neoplasm Hypertensive retinopathy Panic attack Ptosis Carcinoma Glaucoma Retinopathy Proximal muscle weakness Osteoporosis Visual loss Hypertrophic cardiomyopathy Muscle weakness Increased intracranial pressure Headache Behavioral abnormality Blindness Hydrocephalus Arrhythmia Cardiomyopathy Positive regitine blocking test Elevated urinary norepinephrine Paroxysmal vertigo Elevated urinary dopamine Short stature Scoliosis Ataxia Paraganglioma of head and neck Nystagmus Elevated urinary epinephrine Retinal capillary hemangioma Episodic hyperhidrosis Paresthesia Albuminuria Testicular neoplasm Macroorchidism Pituitary adenoma Red hair Raynaud phenomenon Multiple lentigines Generalized hypopigmentation Congenital cataract Neoplasm of the middle ear Blue irides Thyroid carcinoma Papillary cystadenoma of the epididymis Fibroma Vascular neoplasm Striae distensae Increased circulating cortisol level Gynecomastia Follicular thyroid carcinoma Abnormality of the skin Nevus Hirsutism Confusion Papule Tall stature Stroke Abnormality of the eye Bipolar affective disorder Myalgia Ischemic stroke Heart murmur Hypermelanotic macule Macule Respiratory distress Growth hormone excess Fever Episodic hypertension Follicular hyperplasia Intellectual disability Uterine leiomyoma Generalized myoclonic seizures External ophthalmoplegia Exercise intolerance Congenital hip dislocation Leukodystrophy Mitral regurgitation Spastic tetraplegia Pigmentary retinopathy Increased serum lactate Tetraplegia Ragged-red muscle fibers Lactic acidosis Ophthalmoplegia Dilated cardiomyopathy Respiratory tract infection Developmental regression Neonatal hypotonia Acidosis Respiratory failure Leukoencephalopathy Easy fatigability Dementia Left ventricular systolic dysfunction Focal T2 hypointense brainstem lesion Retinal cavernous angioma Choroidal hemangioma Spinal cord lesion Venous malformation Vascular skin abnormality Episodic vomiting Stress/infection-induced lactic acidosis Abnormal mitochondria in muscle tissue Oral-pharyngeal dysphagia Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Left ventricular noncompaction Ketonuria Preeclampsia Ketosis Rhabdomyolysis Myoclonus Babinski sign Cardiac myxoma Insomnia Abnormality of higher mental function Fasting hyperinsulinemia Nonketotic hypoglycemia Reduced consciousness/confusion Primary hyperparathyroidism Recurrent hypoglycemia Hyperinsulinemic hypoglycemia Abnormality of the lymphatic system Polyphagia Abnormal rapid eye movement sleep Hyperinsulinemia Abnormality of vision Coma Lethargy Anxiety Cutaneous myxoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Zollinger-Ellison syndrome Reactive hypoglycemia Absent speech Flexion contracture Dystonia Diarrhea Vomiting Myopathy Dysphagia Optic atrophy Hyperreflexia Motor delay Spasticity Transient global amnesia Failure to thrive Growth delay Microcephaly Generalized hypotonia Global developmental delay Abnormality of the pancreatic islet cells Abnormality of pain sensation Fluctuations in consciousness Neoplasm of the adrenal gland Hearing abnormality Elevated calcitonin Visceral angiomatosis Back pain Tetralogy of Fallot Abnormality of the cardiovascular system Mitral valve prolapse Coarctation of aorta Hypsarrhythmia Aganglionic megacolon Bone pain Sensorimotor neuropathy Spina bifida Atherosclerosis Venous thrombosis Reduced bone mineral density Breast carcinoma Incoordination Clitoral hypertrophy Specific learning disability Increased reactive oxygen species production Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Gangrene Overweight Sensory axonal neuropathy Severe vision loss Osteomalacia Multiple cafe-au-lait spots Tibial bowing Pulmonary fibrosis Hypophosphatemia Overgrowth Gastrointestinal hemorrhage Anomalous pulmonary venous return Hyperactivity Hypertelorism Abnormal facial shape Anemia Delayed speech and language development Peripheral neuropathy Dysarthria Macrocephaly Abnormality of the skeletal system Respiratory insufficiency Intellectual disability, mild Dilatation Abnormality of cardiovascular system morphology Depressivity Abnormal heart morphology Autism Lymphoma Pulmonic stenosis Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Facial asymmetry Genu valgum Malabsorption Pruritus Kyphoscoliosis Leukemia Attention deficit hyperactivity disorder Paralysis Autistic behavior Hypoglycemia Osteopenia Complete atrioventricular canal defect Night sweats Pancreatic cysts Abnormality of the kidney Chemodectoma Glomus jugular tumor Hypoplastic right heart Loss of voice Elevated circulating catecholamine level Vagal paraganglioma Glomus tympanicum paraganglioma Pulmonary chondroma Gastric leiomyosarcoma Arachnoid hemangiomatosis Hearing impairment Sensorineural hearing impairment Cataract Gait disturbance Neurological speech impairment Neoplasm of the lung Telangiectasia of the skin Abnormality of the pancreas Abnormality of the retinal vasculature Abnormality of the cerebral vasculature Arteriovenous malformation Capillary hemangioma Multiple renal cysts Hemiplegia/hemiparesis Nausea and vomiting Aplasia/Hypoplasia of the cerebellum Polycystic kidney dysplasia Multicystic kidney dysplasia Migraine Sensory neuropathy Retinal detachment Chronic obstructive pulmonary disease Emphysema Carcinoid tumor Renovascular hypertension Rhabdomyosarcoma Nasolacrimal duct obstruction Glioma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Neoplasm of the central nervous system Gastrointestinal stroma tumor Fibular bowing Dural ectasia Epigastric pain Soft tissue sarcoma Pseudoarthrosis Single ventricle Axillary freckling Cranial nerve paralysis Spinal neurofibromas Hoarse voice Postural instability Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Inguinal freckling Embryonal rhabdomyosarcoma Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Vestibular Schwannoma Focal T2 hyperintense brainstem lesion



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