Autoimmunity, and Peripheral demyelination

Diseases related with Autoimmunity and Peripheral demyelination

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


Top matches:

Low match NEUROMYELITIS OPTICA


Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis.

NEUROMYELITIS OPTICA Is also known as devic disease

Related symptoms:

  • Pain
  • Respiratory insufficiency
  • Vomiting
  • Visual loss
  • Respiratory failure


SOURCES: MESH ORPHANET MENDELIAN

More info about NEUROMYELITIS OPTICA

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

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Other less relevant matches:

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

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

Low match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Low match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY


Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Related symptoms:

  • Peripheral neuropathy
  • Areflexia
  • Pes cavus
  • Sensory neuropathy
  • Peripheral demyelination


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

Top 5 symptoms//phenotypes associated to Autoimmunity and Peripheral demyelination

Symptoms // Phenotype % cases
Gait disturbance Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Peripheral demyelination. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Hearing impairment Areflexia Nystagmus Recurrent infections Cerebellar atrophy Mental deterioration Pes cavus Pain Hyperreflexia Behavioral abnormality Hydrocephalus Tremor Cognitive impairment Muscular hypotonia Abnormality of the cerebral white matter Tetraplegia Ataxia Skeletal muscle atrophy Sensory neuropathy Fever Depressivity Sensory impairment Decreased nerve conduction velocity Visual loss

Rare Symptoms - Less than 30% cases


Diffuse cerebral atrophy Babinski sign Bulbar palsy Dysphagia Visual impairment Delayed speech and language development Immunodeficiency Cataract Hernia Sensorineural hearing impairment Intellectual disability, severe Scoliosis Intellectual disability Confusion Neurodegeneration CNS demyelination Optic atrophy Inguinal hernia Autoimmune thrombocytopenia Umbilical hernia Arthritis Recurrent respiratory infections Anxiety Hallucinations Dysmetria Psychosis Gliosis Optic disc pallor Basal ganglia calcification Episodic fever Polyneuropathy Short neck Thrombocytopenia Motor delay Muscular hypotonia of the trunk Hepatosplenomegaly Delusions Pneumonia CSF pleocytosis Dilatation Distal sensory impairment Cerebral atrophy Splenomegaly Abnormality of the skeletal system Hepatomegaly Feeding difficulties Strabismus Brain atrophy Irritability Microcephaly Distal muscle weakness Vomiting Respiratory failure Neuronal loss in central nervous system Hyperkinesis Dysarthria Proximal muscle weakness Leukodystrophy Tall stature Type II diabetes mellitus Delayed myelination Psychotic episodes Conotruncal defect Retinal vascular tortuosity Widely spaced teeth Dental malocclusion Congenital conductive hearing impairment Decreased antibody level in blood Otitis media Giant platelets Perineal fistula Hip dysplasia Recurrent bacterial infections Velopharyngeal insufficiency Bowing of the long bones Aplasia of the thymus Pancytopenia Depressed nasal ridge Vascular ring Limb ataxia Narrow palate Hypertrichosis Gingival overgrowth Central nervous system degeneration Amblyopia Arteria lusoria Low anterior hairline Progressive neurologic deterioration Progressive cerebellar ataxia Spastic gait Frontal bossing Macroglossia Myopia Kyphoscoliosis Macrotia Mandibular prognathia Increased intracranial pressure Gait ataxia Prominent forehead Delayed skeletal maturation Midface retrusion Epicanthus Macrocephaly Malar flattening Kyphosis Intellectual disability, mild Abnormality of the dentition Myopathy Ventriculomegaly Osteopenia Skeletal dysplasia Highly arched eyebrow Corneal opacity Thick eyebrow Retinal degeneration Genu valgum Right aortic arch with mirror image branching Talipes equinovarus Hypermetropia Neurological speech impairment Broad forehead Depressed nasal bridge Pectus carinatum Sacral meningocele Respiratory tract infection Coarse facial features Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Growth delay Hypertelorism Abnormality of the foot Thoracolumbar kyphosis Prominent supraorbital ridges Difficulty walking Emotional lability Incoordination Muscle stiffness Diplopia Memory impairment Urinary incontinence Paresthesia Scarring Constipation Urinary hesitancy Headache Neoplasm Acute demyelinating polyneuropathy Ophthalmoparesis Esotropia Limb muscle weakness Ophthalmoplegia Ptosis Spinocerebellar tract disease in lower limbs Brain neoplasm Arrhythmia Synovial hypertrophy Amyotrophic lateral sclerosis Degeneration of anterior horn cells Areflexia of lower limbs Bulbar signs Proximal amyotrophy Hand tremor Abnormality of lipid metabolism Decreased number of peripheral myelinated nerve fibers Axonal degeneration Mildly elevated creatine phosphokinase Sensory axonal neuropathy Hand muscle atrophy Myotonia Spinal muscular atrophy Hyperlipidemia Fasciculations Muscle cramps Peripheral axonal neuropathy Diabetes mellitus Elevated serum creatine phosphokinase Onion bulb formation Flattened moderately deformed vertebrae Progressive joint destruction Chronic otitis media Limb dystonia Abnormality of the helix Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Bronchitis Craniofacial hyperostosis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Spondylolisthesis Abnormality of the rib cage Abnormality of dental structure Oligosacchariduria Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Synostosis of joints Abnormal cornea morphology Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Duodenal stenosis Abnormal echocardiogram Synovitis Paranoia Cholelithiasis Impaired T cell function EEG abnormality Frequent falls Tetraparesis Generalized myoclonic seizures Falls Protruding ear Pallor Developmental regression Rigidity Reduced visual acuity Clonus Weight loss Abnormality of metabolism/homeostasis Hypertonia Blindness Failure to thrive Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Progressive muscle weakness Sensorimotor neuropathy CSF lymphocytic pleiocytosis Progressive spasticity Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Increased CSF protein Hyperactive deep tendon reflexes Ankle clonus Opisthotonus Horizontal nystagmus Global brain atrophy Hemiplegia/hemiparesis Postural tremor Hemiplegia CNS hypomyelination Spastic tetraparesis Spastic paraparesis Paraparesis EMG abnormality Chilblains Multiple gastric polyps Decerebrate rigidity Myelitis Skin rash Feeding difficulties in infancy Elevated hepatic transaminase Cerebral cortical atrophy Glaucoma Agenesis of corpus callosum Encephalopathy Dystonia Recurrent singultus Cerebral calcification Functional abnormality of the bladder Optic neuritis Abnormality of brain morphology Neuritis Ocular pain Autoimmune antibody positivity Nausea Paraplegia Paralysis Severe global developmental delay Hepatitis Autoamputation Petechiae Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Acrocyanosis Progressive encephalopathy Atrophy/Degeneration affecting the brainstem Prolonged neonatal jaundice Congenital glaucoma Spastic diplegia Abnormality of extrapyramidal motor function Systemic lupus erythematosus Encephalitis Poor head control Cerebral palsy Leukoencephalopathy Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Spastic tetraplegia Abnormal nerve conduction velocity Unexplained fevers Right aortic arch Apathy Autoimmune hemolytic anemia Abnormality of the ear Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Obsessive-compulsive behavior Psoriasiform dermatitis Submucous cleft hard palate Rheumatoid arthritis Dysdiadochokinesis Respiratory insufficiency Nasal speech Abnormality of the hand Schizophrenia Arnold-Chiari malformation Bicuspid aortic valve Axonal loss Anal stenosis Purpura Pulmonary artery atresia Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Abnormality of the endocrine system Posterior embryotoxon Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Holoprosencephaly Narrow palpebral fissure Abnormal flash visual evoked potentials Obesity Retrognathia Hypothyroidism Hyperactivity Posteriorly rotated ears Dementia Abnormal heart morphology Patent ductus arteriosus Hypospadias Absent speech Aggressive behavior Abnormality of cardiovascular system morphology Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect High palate Anemia Cleft palate Abnormal facial shape Short stature Conductive hearing impairment Abnormality of the pinna Multicystic kidney dysplasia Specific learning disability Hypocalcemia Spina bifida Renal dysplasia Open mouth Primary amenorrhea Low posterior hairline Tetralogy of Fallot Amenorrhea Renal agenesis Blepharophimosis Underdeveloped nasal alae Vesicoureteral reflux Chorea Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Pulmonic stenosis Congenital cataract Atrophy of the spinal cord



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