Fever, and Peripheral axonal neuropathy

Diseases related with Fever and Peripheral axonal neuropathy

In the following list you will find some of the most common rare diseases related to Fever and Peripheral axonal neuropathy that can help you solving undiagnosed cases.


Top matches:

Medium match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1


X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1 Is also known as cmt2, formerly|cmt1x|charcot-marie-tooth peroneal muscular atrophy, x-linked|cmtx1|cmtx|charcot-marie-tooth neuropathy, x-linked, 1|hereditary motor and sensory neuropathy, x-linked|hmsn, x-linked

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 1

Medium 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

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Other less relevant matches:

Medium match ALPERS-HUTTENLOCHER SYNDROME


Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Medium match CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME


Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Medium match NEUROPATHY, PAINFUL


Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E


Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

Medium match TANGIER DISEASE


Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

TANGIER DISEASE Is also known as defective adenosine triphosphate-binding cassette transporter a1|analphalipoproteinemia|atp-binding cassette transporter a1 deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Abdominal pain
  • Hepatosplenomegaly
  • Distal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about TANGIER DISEASE

Top 5 symptoms//phenotypes associated to Fever and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Fever and Peripheral axonal neuropathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Hyporeflexia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Intellectual disability Motor delay Seizures Global developmental delay Peripheral demyelination Paresthesia Dysarthria Cerebellar atrophy Sensorineural hearing impairment Axonal degeneration Sensory neuropathy Falls Dysmetria Distal muscle weakness Paraparesis Aphasia Coma Axonal loss Abnormality of peripheral nerve conduction Visual impairment Vomiting Dementia Polyneuropathy Hemiparesis Short stature Hepatomegaly Cerebral atrophy Jaundice Anemia Pes cavus Developmental regression Kyphosis Dysphagia Hyperreflexia Spasticity Babinski sign Gait disturbance Generalized hypotonia Cognitive impairment Mental deterioration

Rare Symptoms - Less than 30% cases


Acidosis Myoclonus Left ventricular hypertrophy Visual loss Encephalopathy Flexion contracture Hypertonia Blindness Optic atrophy Intrauterine growth retardation Feeding difficulties Muscular hypotonia Micrognathia Atrioventricular block Failure to thrive Microcephaly Hallucinations Rigidity Sensory impairment Spastic paraparesis Hypertriglyceridemia Foot dorsiflexor weakness Decreased nerve conduction velocity Stroke-like episode Increased CSF protein Syringomyelia Cerebral hemorrhage Cachexia Growth delay Generalized tonic-clonic seizures Abnormality of the eye Abnormality of visual evoked potentials Focal segmental glomerulosclerosis Amenorrhea Myalgia Split hand Cerebral cortical atrophy Hypogonadism Osteoporosis Abnormality of the dentition Ventriculomegaly Hypogonadotrophic hypogonadism Cataract Strabismus Rhabdomyolysis Motor polyneuropathy Facial diplegia Abnormality of the liver Memory impairment Bilateral sensorineural hearing impairment Abnormality of movement Lactic acidosis Neurodegeneration Brain atrophy Increased serum lactate Generalized-onset seizure Thrombocytopenia Status epilepticus Photophobia Hepatosplenomegaly Difficulty walking Cerebral visual impairment Abnormality of vision Gait ataxia Psychomotor deterioration Neuronal loss in central nervous system Decreased number of peripheral myelinated nerve fibers Congestive heart failure Diarrhea Cardiomyopathy Progressive neurologic deterioration Pain Distal upper limb amyotrophy Abnormal nerve conduction velocity Clumsiness Spinocerebellar tract degeneration Distal lower limb amyotrophy Onion bulb formation Truncal ataxia Slurred speech Headache Decreased motor nerve conduction velocity Cranial nerve paralysis Frequent falls Intention tremor Sensory ataxia Abnormal cerebellum morphology Scoliosis Distal sensory impairment Distal amyotrophy Lower limb muscle weakness Proteinuria Respiratory distress Abdominal pain Renal insufficiency Congenital cataract Arrhythmia Gliosis Progressive peripheral neuropathy Malabsorption Nephropathy Abnormality of the cerebral white matter Weight loss Migraine Paraplegia Constipation Goiter Hypercalciuria Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Hypopigmented skin patches Schizophrenia Abnormality of the cardiovascular system Feeding difficulties in infancy Ragged-red muscle fibers Bilateral ptosis Abnormality of the pinna Mutism Ischemic stroke Apnea Hyponatremia Hemiplegia Specific learning disability Generalized myoclonic seizures Anxiety Hemiplegia/hemiparesis Mask-like facies Muscle cramps Hip dysplasia Bifid scrotum Aplasia/Hypoplasia of the cerebellum Postural instability Aortic aneurysm Intestinal obstruction Cerebral calcification Personality changes Hypertrophic cardiomyopathy Ophthalmoparesis Pigmentary retinopathy Erythema Abnormality of mitochondrial metabolism Protruding ear Attention deficit hyperactivity disorder Nyctalopia Ventricular hypertrophy Nausea and vomiting Abnormality of retinal pigmentation Delayed puberty Gingival overgrowth Anorexia Psychosis Anal atresia Confusion Ichthyosis Carious teeth Abnormality of neuronal migration Atrial fibrillation Vertigo Decreased body weight Hypertrichosis Nausea Polymicrogyria Involuntary movements Clonus Cardiac arrest Reduced tendon reflexes Exercise intolerance Nephrotic syndrome External ophthalmoplegia Stroke Neurological speech impairment Pancreatitis Dilated cardiomyopathy Macular degeneration Purpura Type II diabetes mellitus EMG abnormality Pruritus Pulmonary arterial hypertension Type I diabetes mellitus Sudden cardiac death Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Hirsutism Generalized hirsutism Tubulointerstitial nephritis Overlapping toe Abnormality of the cerebellar vermis Accelerated atherosclerosis Cochlear malformation Edema of the dorsum of hands Carotid artery stenosis Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Psychotic episodes Progressive night blindness Tubulointerstitial abnormality Renal Fanconi syndrome Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Coronary artery stenosis Cochlear degeneration Episodic vomiting Glomerulosclerosis Ectropion Dry skin Nail dystrophy Corneal opacity Mild proteinuria Steppage gait Hypocholesterolemia Hammertoe Nephritis Glomerulonephritis Chronic noninfectious lymphadenopathy Abnormal mitochondrial shape Stage 5 chronic kidney disease Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Dysesthesia Impaired thermal sensitivity Adrenal insufficiency Hyperthyroidism Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Basal ganglia calcification Heart block Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Bundle branch block Xerostomia Hypoparathyroidism Abnormality of the renal tubule Reduced consciousness/confusion Hemianopia Ileus Proximal tubulopathy Retinal pigment epithelial atrophy Gastroesophageal reflux Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Gait imbalance Cerebral ischemia Mitochondrial myopathy Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Renal tubular dysfunction Aortic dissection Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia EEG abnormality Edema Dyspnea Aciduria Encephalitis Intellectual disability, progressive Decreased liver function Hepatic fibrosis Cholestasis Choreoathetosis Hepatitis Epileptic encephalopathy Focal-onset seizure Hepatic failure Spastic diplegia Cirrhosis Paralysis Elevated hepatic transaminase Retrognathia Respiratory failure Hyperactivity Pneumonia Amyloid deposition in the vitreous humor Cardiac amyloidosis Akinesia Progressive spasticity Orthostatic hypotension due to autonomic dysfunction Gastric ulcer Abnormality of the skeletal system Abnormal facial shape Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Cerebral degeneration Multifocal seizures Chronic hepatitis Micronodular cirrhosis Celiac disease Microvesicular hepatic steatosis 3-Methylglutaconic aciduria Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Severe failure to thrive Progressive encephalopathy Vitreous floaters Urinary retention Intellectual disability, mild Limb ataxia Hyperventilation Impaired pain sensation Pathologic fracture Lower limb hyperreflexia Toe walking Language impairment Dysdiadochokinesis Incoordination Sensorimotor neuropathy Tetraparesis Hand tremor Abnormality of the foot Limb muscle weakness Abnormality of the nervous system Episodic ataxia Leukoencephalopathy Progressive cerebellar ataxia Unsteady gait Poor speech Delayed speech and language development Upper limb undergrowth Excessive daytime somnolence Abnormal renal physiology Abnormal autonomic nervous system physiology Myelopathy Constrictive median neuropathy Multiple myeloma Restrictive cardiomyopathy Amyloidosis Orthostatic hypotension Malnutrition Impotence Rheumatoid arthritis Vasculitis Achilles tendon contracture Cardiomegaly Hypotension Urinary incontinence Facial palsy Arthritis Hydrocephalus Motor aphasia Peripheral axonal degeneration Pseudobulbar paralysis Absent Achilles reflex Talipes equinovarus Microphthalmia Hypothyroidism Iris hypopigmentation Macular hypoplasia Partial albinism Hypersplenism Hemophagocytosis White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Gingival bleeding Oculogyric crisis Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Albinism Melanocytic nevus Leukopenia Skin ulcer Hyperpigmentation of the skin Recurrent bacterial skin infections Hypofibrinogenemia Cutaneous photosensitivity Short neck Autism Diabetes mellitus Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Depressivity Dystonia Myopathy Respiratory insufficiency Abnormal leukocyte morphology Fatigue Hypertension Ptosis Hypertelorism Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Amblyopia Epistaxis Kyphoscoliosis Long eyelashes Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Myoglobinuria Secondary amenorrhea Postural tremor CNS hypomyelination Hypergonadotropic hypogonadism Primary amenorrhea Recurrent myoglobinuria Interphalangeal joint contracture of finger Decreased testicular size Chorea Microcornea Small hand Abnormal pyramidal sign Camptodactyly of finger Proximal muscle weakness Hypoglycemia Abnormality of the cervical spine Malar prominence Pancytopenia Lymphadenopathy Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Lymphoma Parkinsonism Abnormal bleeding Hypopigmentation of the skin Neutropenia Bruising susceptibility Spastic paraplegia Upper limb postural tremor Leukemia Reduced visual acuity Recurrent respiratory infections Recurrent infections Immunodeficiency Splenomegaly Atrial septal defect Neoplasm Peripheral hypomyelination Acute rhabdomyolysis Orange discoloured tonsils



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