Nystagmus, and Pheochromocytoma

Diseases related with Nystagmus and Pheochromocytoma

In the following list you will find some of the most common rare diseases related to Nystagmus 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 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 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

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Other less relevant matches:

Low match PARAGANGLIOMAS 5; PGL5


Related symptoms:

  • Neoplasm
  • Hypertension
  • Hyperhidrosis
  • Vertigo
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about PARAGANGLIOMAS 5; PGL5

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

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 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 MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A


Multiple endocrine neoplasia type IIA is an autosomal dominant syndrome of multiple endocrine neoplasms, including medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid adenomas. MEN2B (OMIM ), characterized by MTC with or without pheochromocytoma and with characteristic clinical abnormalities such as ganglioneuromas of the lips, tongue and colon, but without hyperparathyroidism, is also caused by mutation in the RET gene (summary by Lore et al., 2001).For a discussion of genetic heterogeneity of multiple endocrine neoplasia, see MEN1 (OMIM ).

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A Is also known as pheochromocytoma and amyloid-producing medullary thyroid carcinoma|sipple syndrome|ptc syndrome

Related symptoms:

  • Neoplasm
  • Hypertension
  • Carcinoma
  • Aganglionic megacolon
  • Hyperparathyroidism


SOURCES: OMIM MENDELIAN

More info about MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA; MEN2A

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

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Top 5 symptoms//phenotypes associated to Nystagmus and Pheochromocytoma

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Seizures Paraganglioma Global developmental delay Pain Hearing impairment Hyperhidrosis Visual loss

Rare Symptoms - Less than 30% cases


Glaucoma Short stature Diarrhea Myoclonus Weight loss Ragged-red muscle fibers Dysarthria Tremor Spastic tetraplegia Increased serum lactate Hydrocephalus Generalized hypotonia Arrhythmia Cataract Growth delay Muscle weakness Ptosis Cognitive impairment Tetraplegia Motor delay Hyperreflexia Optic atrophy Blindness Vomiting Incoordination Anemia Neurofibromas Failure to thrive Headache Carcinoma Abnormal facial shape Strabismus Intellectual disability Tachycardia Increased intracranial pressure Leukocoria Soft tissue sarcoma Abnormality of the cerebral white matter Leiomyosarcoma Anisocoria Vitreous hemorrhage Ocular pain Retinoblastoma Poor speech Unsteady gait Inflammatory abnormality of the eye Intention tremor Buphthalmos Astrocytoma Pituitary adenoma Increased CSF lactate Wolff-Parkinson-White syndrome Palpitations Malar rash Fibrosarcoma Abnormal pyramidal sign Cranial nerve paralysis Liposarcoma Neoplasm of the eye Histiocytoma Vitritis Hyphema CNS demyelination Ewing sarcoma Pineal cyst Iris neovascularization Pinealoma Glioblastoma multiforme Retinal calcification Pineoblastoma Burkitt lymphoma Neuroblastic tumors Delayed speech and language development Ventricular septal defect Obesity Gait ataxia Reduced visual acuity Sebaceous gland carcinoma Hoarse voice Loss of voice Vocal cord paralysis Type I lissencephaly Bulbous nose Sloping forehead Narrow forehead Intellectual disability, profound Heterotopia Pachygyria Spontaneous abortion Lissencephaly Abnormality of neuronal migration Microphallus Agyria Subependymal nodules Postnatal growth retardation Depressivity Constipation Difficulty walking Scarring Autoimmunity Paresthesia Confusion Urinary incontinence Memory impairment Diplopia Muscle stiffness Hyperkinesis Severe global developmental delay Muscular hypotonia of the trunk Recurrent paroxysmal headache Hyperparathyroidism Adrenal pheochromocytoma Pulsatile tinnitus Episodic paroxysmal anxiety Hypertension associated with pheochromocytoma Chemodectoma Extraadrenal pheochromocytoma Glomus jugular tumor Emotional lability Elevated circulating catecholamine level Anemia of inadequate production Brain neoplasm Aganglionic megacolon Increased circulating cortisol level Micropenis Upper limb undergrowth Neoplasm of the endocrine system Parathyroid adenoma Thyroid carcinoma Carcinoid tumor Parathyroid hyperplasia Medullary thyroid carcinoma Elevated calcitonin Elevated urinary epinephrine Abnormality of the integument Intellectual disability, mild Agenesis of corpus callosum Acute monocytic leukemia Stress/infection-induced lactic acidosis Osteosarcoma Neoplasm of the nervous system Neoplasm of the middle ear Fever Abdominal pain Cafe-au-lait spot Bone pain Abnormality of the thorax Neuroblastoma Spinal cord compression Skin nodule Ganglioneuroma Horner syndrome Retinal capillary hemangioma Ganglioneuroblastoma Adrenal calcification Opsoclonus Abdominal mass Elevated urinary dopamine Elevated urinary catecholamines Elevated urinary homovanillic acid Elevated urinary vanillylmandelic acid Flexion contracture Dysphagia Cardiomyopathy Vascular neoplasm Papillary cystadenoma of the epididymis Hypertonia Aplasia/Hypoplasia of the cerebellum Sensorineural hearing impairment Gait disturbance Abnormality of the kidney Neurological speech impairment Nausea and vomiting Retinal detachment Sensory neuropathy Migraine Multicystic kidney dysplasia Polycystic kidney dysplasia Hemiplegia/hemiparesis Neuroendocrine neoplasm Telangiectasia of the skin Renal cell carcinoma Multiple renal cysts Capillary hemangioma Arteriovenous malformation Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Abnormality of the pancreas Pancreatic cysts Visceral angiomatosis Abnormality of the lymphatic system Myopathy Congestive heart failure Chromosome breakage Malar flattening Ketonuria Left ventricular noncompaction Hemolytic-uremic syndrome Increased intramyocellular lipid droplets Progressive leukoencephalopathy Decreased activity of mitochondrial complex II Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Vertigo Cleft palate Proptosis Ketosis Skin rash Leukemia Abnormality of skin pigmentation Postural instability Lymphoma Anorexia Sarcoma Myelodysplasia Cellulitis Acute myeloid leukemia Uveitis Preeclampsia Rhabdomyolysis Dystonia Dilated cardiomyopathy Absent speech Babinski sign Dementia Respiratory failure Acidosis Neonatal hypotonia Proximal muscle weakness Hypertrophic cardiomyopathy Developmental regression Respiratory tract infection Retinopathy Ophthalmoplegia Oral-pharyngeal dysphagia Lactic acidosis Generalized muscle weakness Generalized myoclonic seizures Pigmentary retinopathy Mitral regurgitation Leukodystrophy Congenital hip dislocation Exercise intolerance External ophthalmoplegia Leukoencephalopathy Easy fatigability Urinary hesitancy



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