Cognitive impairment, and Psychosis

Diseases related with Cognitive impairment and Psychosis

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


Top matches:

Medium match EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5


Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

Medium match HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS


Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.

HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy|c9orf72-related huntington disease-like syndrome|huntington disease phenocopy due to c9orf72 expansions

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS

Medium match MYOCLONUS-DYSTONIA SYNDROME


Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

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Other less relevant matches:

Medium 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

Medium match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5


Idiopathic basal ganglia calcification-5 (IBGC5) is an autosomal dominant disorder characterized by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some patients are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive (summary by Keller et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Gait disturbance
  • Dystonia
  • Headache


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5; IBGC5

Low match ADAN AMYLOIDOSIS


ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

Low match EARLY-ONSET LAFORA BODY DISEASE


Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Low match SCHIZOPHRENIA; SCZD


Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

Low match PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A


Parkinson disease-19A is an autosomal recessive neurodegenerative disorder characterized by onset of parkinsonism in the first or second decade. Some patients may have additional neurologic features, including mental retardation and seizures (summary by Edvardson et al., 2012 and Koroglu et al., 2013).Parkinson disease-19B is an autosomal recessive neurodegenerative disorder with onset of parkinsonism between the third and fifth decades. It is slowly progressive, shows features similar to classic late-onset Parkinson disease (PD), and has a beneficial response to dopaminergic therapy (Olgiati et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease, see PD (OMIM ).

PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A Is also known as park19, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 19A, JUVENILE-ONSET; PARK19A

Low match PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6


PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6 Is also known as parkinson disease 6, early-onset|park6

Related symptoms:

  • Pain
  • Cognitive impairment
  • Hyperreflexia
  • Tremor
  • Behavioral abnormality


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK6

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

Symptoms // Phenotype % cases
Depressivity Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Behavioral abnormality Common - Between 50% and 80% cases
Dystonia Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Anxiety Parkinsonism Chorea Seizures Dyskinesia Hallucinations Dysarthria Rigidity Hyperreflexia Bradykinesia Akinesia Intellectual disability Spasticity Personality disorder Myoclonus Ataxia

Rare Symptoms - Less than 30% cases


Hypomimic face Neurofibrillary tangles Encephalopathy Visual hallucinations Basal ganglia calcification Gait disturbance Postural instability Resting tremor Memory impairment Hypometric saccades Developmental regression Bipolar affective disorder Alzheimer disease Aggressive behavior Schizophrenia Increased body weight Abnormality of extrapyramidal motor function Orthostatic hypotension Lewy bodies Preeclampsia Small for gestational age EEG abnormality Autism Microcephaly Lafora bodies Paranoia Spastic ataxia Mutism Delusions Borderline personality disorder Shuffling gait Hypotension Anarthria Pain Global brain atrophy Generalized-onset seizure Brain atrophy Gliosis Inability to walk Neuronal loss in central nervous system Mood swings Abnormal pyramidal sign Intellectual disability, moderate Social and occupational deterioration Frequent falls Mania Abnormal autonomic nervous system physiology Urinary urgency Auditory hallucinations Spastic tetraparesis Tetraplegia Spastic tetraplegia Writer's cramp Neurological speech impairment Spinal myoclonus Limb myoclonus Panic attack Cortical myoclonus Agoraphobia Retrocollis Axial dystonia Torsion dystonia Choreoathetosis Laryngeal dystonia Obsessive-compulsive behavior Torticollis Involuntary movements Abnormality of movement Hyperactivity Muscular hypotonia Generalized hypotonia Inappropriate behavior Cerebral calcification Slurred speech Urinary incontinence Intention tremor Generalized myoclonic seizures Progressive cerebellar ataxia Upper motor neuron dysfunction Falls Confusion Mental deterioration Generalized tonic-clonic seizures Cerebral amyloid angiopathy Posterior polar cataract Focal-onset seizure Palilalia Cataract Hearing impairment Motor tics Athetosis Apathy Migraine Status epilepticus Vertigo Headache Parkinsonism with favorable response to dopaminergic medication



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