Arthritis, and Encephalopathy

Diseases related with Arthritis and Encephalopathy

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


Top matches:

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

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Other less relevant matches:

Low match PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS


Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 Is also known as gout susceptibility 4|gout4

Related symptoms:

  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1


Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait LociSee also UAQTL2 (see {612076}), conferred by variation in the SLC2A9 gene (OMIM ) on chromosome 4p; UAQTL4 (OMIM ), conferred by variation in the SLC17A3 gene (OMIM ) on chromosome 6p21; UAQTL5 (OMIM ), associated with a SNP on chromosome 19q13; and UAQTL6 (OMIM ), associated with a SNP on chromosome 1.

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Is also known as gout1|gout susceptibility 1

Related symptoms:

  • Arthritis
  • Abnormality of the skin
  • Hyperuricemia
  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

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 EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY


Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts|ohtahara syndrome|eiee

Related symptoms:

  • Seizures
  • Encephalopathy
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Epileptic encephalopathy


SOURCES: ORPHANET MENDELIAN

More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Febrile seizures
  • Epileptic encephalopathy


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19; EIEE19

Top 5 symptoms//phenotypes associated to Arthritis and Encephalopathy

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Epileptic encephalopathy Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Ataxia Lethargy Global developmental delay Generalized myoclonic seizures Rheumatoid arthritis Status epilepticus Gout Difficulty walking Gait ataxia Infantile encephalopathy Hearing impairment Nystagmus Fatigue Talipes equinovarus Spasticity Tremor Hyperreflexia Depressivity Acute hepatic failure Abnormality of the coagulation cascade Abnormality of the gastrointestinal tract Hyperammonemia Hepatic encephalopathy Muscle weakness Elevated hepatic transaminase Hypoglycemia Hypopigmented skin patches Jaundice Conjunctivitis Vomiting Cardiomyopathy Recurrent skin infections Hepatic failure Encephalitis Enteroviral hepatitis Thymoma Bronchitis Osteomyelitis Glossoptosis Agammaglobulinemia Cor pulmonale Myelopathy Abnormality of the lymphatic system Pyoderma Cellulitis Chronic otitis media Peripheral neuropathy Septic arthritis Abnormality of the tonsils Epididymitis Prostatitis Lymph node hypoplasia Enteroviral dermatomyositis syndrome Recurrent cutaneous abscess formation Polyneuropathy Dysarthria Neuronal loss in central nervous system Cerebellar atrophy Abnormality of metabolism/homeostasis Cerebellar hypoplasia Myoclonus Respiratory failure Polyhydramnios Severe global developmental delay Gliosis Congenital contracture Hyperuricemia Hypoplasia of the brainstem Hypoplasia of the pons Loss of Purkinje cells in the cerebellar vermis Focal-onset seizure Epileptic spasms Febrile seizures Absence seizures Atonic seizures Microcephaly Abnormality of the skin Skeletal muscle atrophy Increased CSF lactate Areflexia Hyporeflexia Paralysis Abnormality of the foot Peripheral axonal neuropathy Falls Hypocalcemia Frequent falls Limb joint contracture Alternating esotropia Contractures of the joints of the lower limbs Generalized hypotonia EEG abnormality Abnormality of the eye Abnormality of eye movement Esotropia Athetosis Limb hypertonia Recurrent bacterial infections Abnormal lung morphology Recurrent pneumonia Brisk reflexes Involuntary movements Horizontal nystagmus Torticollis Cerebral palsy Dysphonia Obsessive-compulsive behavior Postural tremor Spastic diplegia Gaze-evoked nystagmus Bradykinesia Lower limb hyperreflexia Resting tremor Hyperactive deep tendon reflexes Impaired vibration sensation in the lower limbs Limb dystonia Generalized dystonia Focal dystonia Upper motor neuron dysfunction Abnormality of extrapyramidal motor function Parkinsonism Parkinsonism with favorable response to dopaminergic medication Hypothyroidism Scoliosis Motor delay Hypertension Gait disturbance Behavioral abnormality Dystonia Babinski sign Pes cavus Rigidity Abnormal cerebellum morphology Anxiety Hyperlordosis Irritability Abnormal pyramidal sign Spastic paraplegia Abnormality of movement Paraplegia Confusion Sleep disturbance Torsion dystonia Oromandibular dystonia Meningitis Sepsis Rod-cone dystrophy Dementia Weight loss Autoimmunity Retinopathy Skin rash Malabsorption Neutropenia Decreased antibody level in blood Pneumonia Otitis media Hepatitis Recurrent urinary tract infections Chronic diarrhea Telangiectasia Sinusitis Skin ulcer Lymphopenia Alopecia Thrombocytopenia Writer's cramp Short stature Axial dystonia Obsessive-compulsive trait Progressive flexion contractures Transient hyperphenylalaninemia Fixed facial expression Abnormality of the substantia nigra Decreased CSF homovanillic acid Paresis of extensor muscles of the big toe Neoplasm Recurrent infections Failure to thrive Sensorineural hearing impairment Anemia Delayed speech and language development Fever Myopathy Diarrhea Immunodeficiency Dilatation Hemiclonic seizures



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