Arthritis, and Gliosis

Diseases related with Arthritis and Gliosis

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


Top matches:

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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Other less relevant 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 PONTOCEREBELLAR HYPOPLASIA TYPE 4


Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH (see this term), characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death.

PONTOCEREBELLAR HYPOPLASIA TYPE 4 Is also known as fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia|pch4

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 4

Low match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Low match FRONTOTEMPORAL DEMENTIA; FTD


Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS ) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). {30,31:Mackenzie et al. (2009, 2010)} provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). Clinical Variability of TauopathiesTauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal MAPT-positive inclusions in nerve and/or glial cells. In addition to frontotemporal dementia, semantic dementia, and PPA, different clinical syndromes with overlapping features have been described, leading to confusion in the terminology (Tolnay and Probst, 2002). Other terms used historically include parkinsonism and dementia with pallidopontonigral degeneration (PPND) (Wszolek et al., 1992); disinhibition-dementia-parkinsonism-amyotrophy complex (DDPAC) (Lynch et al., 1994); frontotemporal dementia with parkinsonism (FLDEM) (Yamaoka et al., 1996); and multiple system tauopathy with presenile dementia (MSTD) (Spillantini et al., 1997). These disorders are characterized by variable degrees of frontal lobe dementia, parkinsonism, motor neuron disease, and amyotrophy.Other neurodegenerative associated with mutations in the MAPT gene include Pick disease (OMIM ) and progressive supranuclear palsy (PSP ),Inherited neurodegenerative tauopathies linked to chromosome 17 and caused by mutation in the MAPT gene have also been collectively termed 'FTDP17' (Lee et al., 2001).Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), PSP, 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. Genetic Heterogeneity of Frontotemporal Lobar DegenerationMutations in several different genes can cause frontotemporal dementia and frontotemporal lobar degeneration, with or without motor neuron disease. See FTLD with TDP43 inclusions (OMIM ), caused by mutation in the GRN gene (OMIM ) on chromosome 17q21; FTLD mapping to chromosome 3 (OMIM ), caused by mutation in the CHMP2B gene (OMIM ); inclusion body myopathy with Paget disease and FTD (IBMPFD ), caused by mutation in the VCP gene (OMIM ) on chromosome 9p13; ALS6 (OMIM ), caused by mutation in the FUS gene (OMIM ) on 16p11; ALS10 (OMIM ), caused by mutation in the TARDBP gene (OMIM ) on 1p36; and FTDALS (OMIM ), caused by mutation in the C9ORF72 gene (OMIM ) on 9p.In 1 family with FTD, a mutation was identified in the presenilin-1 gene (PSEN1 ) on chromosome 14, which is usually associated with a familial form of early-onset Alzheimer disease (AD3 ).

FRONTOTEMPORAL DEMENTIA; FTD Is also known as mstd|frontotemporal dementia with parkinsonism|ftld with tau inclusions|ddpac|ftdp17|wilhelmsen-lynch disease|pallidopontonigral degeneration|frontotemporal lobar degeneration with tau inclusions|frontotemporal lobe dementia|disinhibition-dementia-parkins

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Tremor
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA; FTD

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A


Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Low match PARKINSONIAN-PYRAMIDAL SYNDROME


Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism).

PARKINSONIAN-PYRAMIDAL SYNDROME Is also known as pkps|pallidopyramidal syndrome|parkinsonian-pyramidal syndrome|pallido-pyramidal syndrome

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARKINSONIAN-PYRAMIDAL SYNDROME

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

Top 5 symptoms//phenotypes associated to Arthritis and Gliosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Neuronal loss in central nervous system Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Ventriculomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Gliosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Myoclonus Dementia Dystonia Cerebellar atrophy Tremor Hyperreflexia Cerebral atrophy Flexion contracture Mental deterioration Bradykinesia Microcephaly Peripheral demyelination Brain atrophy Ataxia Abnormal cerebellum morphology Neurodegeneration Abnormality of the cerebral white matter Irritability Severe global developmental delay Rigidity Dysphagia Cognitive impairment Behavioral abnormality Gait disturbance Depressivity

Rare Symptoms - Less than 30% cases


Abnormality of extrapyramidal motor function Dyskinesia Intellectual disability Urinary incontinence Areflexia Headache Clonus Generalized hypotonia Hydrocephalus Visual impairment Pain Muscle weakness Sensorineural hearing impairment Nystagmus Hearing impairment Babinski sign Hypertonia Skeletal muscle atrophy Postural instability Optic atrophy Talipes equinovarus Hypoplasia of the pons Myopathy Confusion Parkinsonism Aphasia Hallucinations Abnormal pyramidal sign Polyhydramnios Cerebral cortical atrophy Cerebellar hypoplasia Lewy bodies Abnormal autonomic nervous system physiology Memory impairment Muscular hypotonia Cataract Aggressive behavior Chorea Personality changes Anxiety Weight loss Gait ataxia Akinesia Rheumatoid arthritis Abnormality of eye movement Bronchitis Progressive cerebellar ataxia Restlessness Delayed speech and language development Impaired smooth pursuit Type II diabetes mellitus Pallor Delayed myelination Schizophrenia Progressive neurologic deterioration Respiratory failure Delusions Congenital contracture Hypoplasia of the brainstem Patellar dislocation Severe sensorineural hearing impairment Infantile encephalopathy Retinal thinning Loss of Purkinje cells in the cerebellar vermis Micrognathia Aseptic necrosis Abnormality of metabolism/homeostasis Intrauterine growth retardation Limb dystonia Thickened calvaria Abnormality of the sternum Prominent nasal bridge Small for gestational age Femoral bowing Arthrogryposis multiplex congenita Sloping forehead Choanal atresia Encephalopathy Abnormality of the helix Dysostosis multiplex Decreased pulmonary function Synostosis of joints Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Spondylolysis Synovitis Abnormal cornea morphology Increased vertebral height Increased hepatic glycogen content Generalized abnormality of skin Abnormality of the rib cage Hypoplastic inferior ilia Hydrocele testis Neoplasm Reduced ejection fraction Cerebral dysmyelination Spondylolisthesis Craniofacial hyperostosis Glioma Brain neoplasm Spinocerebellar tract disease in lower limbs Abnormality of the ilium Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Oligosacchariduria Upper motor neuron dysfunction Cortical gyral simplification Extrapyramidal dyskinesia Intention tremor Sleep disturbance Paralysis Difficulty walking Cerebellar hemisphere hypoplasia Hypoplasia of the ventral pons Abnormality of the periventricular white matter Ankle clonus Opisthotonus Poor suck Progressive microcephaly Cerebellar vermis hypoplasia Feeding difficulties in infancy Feeding difficulties Failure to thrive Lower limb spasticity Blepharospasm Anomia Equinovarus deformity Drowsiness Cyanosis Febrile seizures Generalized tonic-clonic seizures Abnormality of the nervous system Monotonic speech Upgaze palsy Scissor gait Slow saccadic eye movements Substantia nigra gliosis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Neurogenic bladder Shuffling gait Hypomimic face Visual hallucinations Socially inappropriate behavior Inappropriate sexual behavior Profound global developmental delay Mutism Agitation Amyotrophic lateral sclerosis Alzheimer disease Postural tremor Apathy Language impairment Fasciculations Polyphagia Apraxia Poor speech Dilatation Abnormal neuron morphology Abnormality of the cerebral cortex Abnormality of the cerebrum Small cerebral cortex Dysphasia Neurofibrillary tangles Prosopagnosia Inappropriate behavior Parasomnia Semantic dementia Lack of insight Frontal lobe dementia Hyperorality Inappropriate laughter Perseveration Stiff neck Frontotemporal dementia Alcoholism Primitive reflex Degeneration of anterior horn cells Disinhibition Bowel incontinence Senile plaques Supranuclear gaze palsy Neurodevelopmental delay Abnormality of the foot Open bite Polyneuropathy Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Migraine Coma Nephropathy Paraparesis Peripheral axonal neuropathy Paresthesia Paraplegia Malabsorption Facial palsy Constipation Hyporeflexia Vasculitis Spastic paraparesis Renal insufficiency Syringomyelia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Amyloidosis Atrioventricular block Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Malnutrition Impotence Cerebral hemorrhage Cachexia Arrhythmia Congestive heart failure Urinary retention Generalized-onset seizure Slurred speech Incoordination Hyperkinesis Involuntary movements Clumsiness Broad-based gait Falls Hypokinesia Abnormality of movement Infertility Cough Hyperactivity Diabetes mellitus Hypertension Anemia Obsessive-compulsive behavior Muscle fibrillation Diarrhea Neuronal loss in basal ganglia Vomiting Cardiomyopathy Fever Peripheral neuropathy Oral motor hypotonia Frequent temper tantrums Suicidal ideation Abnormal involuntary eye movements Cerebellar vermis atrophy Mania Paranoia Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Sensory ataxia Psychomotor deterioration Bowing of the legs Thick eyebrow Hip dysplasia Otitis media Decreased antibody level in blood Dental malocclusion Macroglossia Highly arched eyebrow Retinal degeneration Pancytopenia Dysmetria Genu valgum Hypermetropia Neurological speech impairment Corneal opacity Broad forehead Pectus carinatum Optic disc pallor Psychosis Hepatosplenomegaly Narrow palate Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Widely spaced teeth Recurrent bacterial infections Low anterior hairline Depressed nasal ridge Spastic gait Limb ataxia Gingival overgrowth Amblyopia Tall stature Bowing of the long bones Hypertrichosis Respiratory tract infection Umbilical hernia Orthostatic hypotension due to autonomic dysfunction Depressed nasal bridge Abnormality of the skeletal system Frontal bossing Macrocephaly Myopia Hepatomegaly Epicanthus Motor delay Strabismus Intellectual disability, severe Hypertelorism Growth delay Scoliosis Global developmental delay Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Short neck Abnormality of the dentition Coarse facial features Delayed skeletal maturation Skeletal dysplasia Osteopenia Kyphoscoliosis Macrotia Mandibular prognathia Prominent forehead Recurrent respiratory infections Inguinal hernia Intellectual disability, mild Hernia Midface retrusion Recurrent infections Immunodeficiency Malar flattening Kyphosis Splenomegaly Generalized tonic-clonic seizures with focal onset



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