Abnormality of the skeletal system, and Gliosis

Diseases related with Abnormality of the skeletal system and Gliosis

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Gliosis that can help you solving undiagnosed cases.


Top matches:

Low match ANAPLASTIC OLIGOASTROCYTOMA


Anaplastic oligoastrocytoma is a rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.

ANAPLASTIC OLIGOASTROCYTOMA Is also known as amoa

Related symptoms:

  • Seizures
  • Neoplasm
  • Headache
  • Brain neoplasm
  • Glioma


SOURCES: ORPHANET MENDELIAN

More info about ANAPLASTIC OLIGOASTROCYTOMA

Low match HOT WATER REFLEX EPILEPSY


Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases.

HOT WATER REFLEX EPILEPSY Is also known as bathing epilepsy|water immersion epilepsy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Abnormality of the nervous system


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOT WATER REFLEX EPILEPSY

Low match PICK DISEASE OF BRAIN


Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (OMIM ), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.

PICK DISEASE OF BRAIN Is also known as dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of brain

Related symptoms:

  • Ventriculomegaly
  • Behavioral abnormality
  • Dementia
  • Cerebral cortical atrophy
  • Rigidity


SOURCES: MESH OMIM MENDELIAN

More info about PICK DISEASE OF BRAIN

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Other less relevant matches:

Low match AMYOTROPHY, MONOMELIC


Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005).

AMYOTROPHY, MONOMELIC Is also known as hirayama disease|spinal muscular atrophy, juvenile, nonprogressive

Related symptoms:

  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Tremor
  • Proximal muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYOTROPHY, MONOMELIC

Low match PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8


Related symptoms:

  • Seizures
  • Cognitive impairment
  • Delayed speech and language development
  • Tremor
  • Dementia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; PARK8

Low match PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4


PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Low match ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1


ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Gliosis

Symptoms // Phenotype % cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Frontotemporal dementia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neurofibrillary tangles Mental deterioration Rigidity Tremor

Rare Symptoms - Less than 30% cases


Abnormal autonomic nervous system physiology CNS infection Aphasia Alzheimer disease Hallucinations Neoplasm Resting tremor Bradykinesia Intellectual disability Lewy bodies Generalized hypotonia Brain neoplasm Senile plaques Cerebral cortical atrophy Pallor Parkinsonism Paralysis Drowsiness Dysarthria Dysphagia Gait disturbance Abnormal rapid eye movement sleep Hyporeflexia Congestive heart failure Areflexia Auditory hallucinations Babinski sign Dysmetria Falls Distal sensory impairment Ataxia Memory impairment Paranoia Sleep paralysis Orthostatic hypotension Mutism Peripheral demyelination Hypotension Weight loss Astrocytosis Axonal loss Amyotrophic lateral sclerosis Athetosis Drooling Abnormal cerebellum morphology Fever Sensory ataxia Slurred speech Obesity Hyperactivity Abnormality of the eye Sleep disturbance Syncope Abnormality of vision Hypnagogic hallucinations Severe viral infection Transient global amnesia Atonic seizures Hypersomnia Excessive daytime sleepiness Cataplexy Narcolepsy Paroxysmal drowsiness Homonymous hemianopia Positive Romberg sign EEG abnormality Distal sensory loss of all modalities Distal sensory impairment of all modalities Gait instability, worse in the dark Vomiting Recurrent infections Encephalopathy Lethargy Herpes simplex encephalitis Confusion Hemiparesis Meningitis Encephalitis Hemianopia Encephalomalacia Involuntary movements Akinesia Dystonia Apathy Skeletal muscle atrophy Pain Muscle weakness Emotional blunting Semantic dementia Hyperorality Inappropriate laughter Perseveration Primitive reflex Disinhibition Echolalia Polyphagia Personality changes Language impairment Limb muscle weakness Stereotypy Neurodegeneration Irritability Behavioral abnormality Ventriculomegaly Generalized tonic-clonic seizures with focal onset Cyanosis Febrile seizures Generalized tonic-clonic seizures Abnormality of the nervous system Muscular hypotonia Glioma Headache Proximal muscle weakness Abnormality of movement Motor aphasia Interosseus muscle atrophy Substantia nigra gliosis Parkinsonism with favorable response to dopaminergic medication Hyposmia Shuffling gait Hand tremor Postural tremor Intention tremor Apraxia Postural instability Delayed speech and language development Cold paresis Nonprogressive muscular atrophy Cervical spinal cord atrophy Progressive spinal muscular atrophy Muscle cramps Distal upper limb amyotrophy Upper limb amyotrophy Abnormal anterior horn cell morphology Cervical myelopathy Abnormality of peripheral nerve conduction Myelopathy Degeneration of anterior horn cells Abnormality of the upper limb Upper limb muscle weakness EMG: neuropathic changes Abnormality of the immune system Spinal muscular atrophy EMG abnormality Fasciculations Hypnopompic hallucinations



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