Neoplasm, and Choreoathetosis

Diseases related with Neoplasm and Choreoathetosis

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


Top matches:

Low match BENIGN HEREDITARY CHOREA


BENIGN HEREDITARY CHOREA Is also known as benign familial chorea|bhc

Related symptoms:

  • Gait disturbance
  • Abnormality of movement
  • Chorea


SOURCES: OMIM ORPHANET MENDELIAN

More info about BENIGN HEREDITARY CHOREA

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5


Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

Related symptoms:

  • Seizures
  • Dystonia
  • Generalized tonic-clonic seizures
  • Dyskinesia
  • Choreoathetosis


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

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Other less relevant matches:

Low match PAROXYSMAL KINESIGENIC DYSKINESIA


Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia (see this term), characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.

PAROXYSMAL KINESIGENIC DYSKINESIA Is also known as dystonia 10|pkd|paroxysmal kinesigenic choreathetosis|dystonia, familial paroxysmal|pkc|familial paroxysmal kinesigenic dyskinesia|familial pkd|paroxysmal kinesigenic dyskinesia|dyt10|paroxysmal kinesigenic choreoathetosis

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Dystonia
  • Myoclonus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL KINESIGENIC DYSKINESIA

Low match STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL


STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL Is also known as bilateral striatal necrosis, infantile, mitochondrial|infantile bilateral striatal necrosis, mitochondrial

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Babinski sign
  • Difficulty walking


SOURCES: OMIM MESH MENDELIAN

More info about STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL

Low match INFANTILE CONVULSIONS AND CHOREOATHETOSIS


Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy ; see this term) and choreoathetotic dyskinetic attacks during childhood or adolescence.

INFANTILE CONVULSIONS AND CHOREOATHETOSIS Is also known as paroxysmal kinesigenic dyskinesia and infantile convulsions|icca syndrome|pkd/ic|infantile convulsions and paroxysmal choreoathetosis, familial|paroxysmal kinesigenic dyskinesia with infantile convulsions

Related symptoms:

  • Seizures
  • Ataxia
  • Dystonia
  • Anxiety
  • Apnea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about INFANTILE CONVULSIONS AND CHOREOATHETOSIS

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2


Benign familial infantile seizure is an autosomal dominant disorder characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. Seizures usually remit by age 18 months (summary by Weber et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).Benign familial infantile seizures can also occur in 2 allelic disorders: infantile convulsions and choreoathetosis (ICCA ) and paroxysmal kinesigenic choreoathetosis (EKD1 ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 Is also known as bfic2|convulsions, benign familial infantile, 2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Pallor
  • Generalized tonic-clonic seizures
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Low match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6


Idiopathic basal ganglia calcification is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive neuropsychiatric and movement disorders, although some patients remain asymptomatic. Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. Brain imaging shows calcifications of the basal ganglia and other brain regions (summary by Legati et al., 2015).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Behavioral abnormality


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6; IBGC6

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Spasticity
  • Myoclonus
  • Cerebral cortical atrophy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40; EIEE40

Top 5 symptoms//phenotypes associated to Neoplasm and Choreoathetosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
Paroxysmal choreoathetosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Neoplasm and Choreoathetosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dyskinesia Global developmental delay Focal-onset seizure Migraine

Rare Symptoms - Less than 30% cases


Involuntary movements Myoclonus Generalized tonic-clonic seizures Writer's cramp Paroxysmal dyskinesia Paroxysmal dystonia Gait disturbance Loss of consciousness Spasticity Intellectual disability Focal seizures, afebril Muscular hypotonia Stereotypy Generalized-onset seizure Behavioral abnormality Abnormality of movement Delayed speech and language development Short stature Focal impaired awareness seizure Impulsivity Muscular hypotonia of the trunk Lower limb spasticity Poor head control Hyperreflexia Self-injurious behavior Aggressive behavior Absent speech Cognitive impairment Spastic diplegia Hallucinations Tetraparesis Intellectual disability, profound Hypsarrhythmia Epileptic encephalopathy Cerebral cortical atrophy Palilalia Visual hallucinations Basal ganglia calcification Slurred speech Psychosis Progressive spasticity Cerebral calcification Memory impairment Parkinsonism Neurological speech impairment Dementia Depressivity Dysarthria Febrile seizures Pica Cyanosis Difficulty walking Pallor Nausea and vomiting Hemiplegia/hemiparesis Hyperammonemia Pancreatitis Sepsis Coma Neutropenia Lethargy Shivering Thrombocytopenia Renal insufficiency Respiratory distress Optic atrophy Hepatomegaly Anemia Growth delay Renal tubular dysfunction Normal interictal EEG Focal sensory seizure Apnea Anxiety Ataxia Decreased light- and dark-adapted electroretinogram amplitude Ragged-red muscle fibers Frequent falls Babinski sign Orofacial dyskinesia Muscle weakness Neoplasm of the endocrine system Hypoparathyroidism Hyperventilation Athetosis Cerebral palsy Abnormality of the face Paresthesia Spastic tetraparesis



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