Autoimmunity, and Paraplegia

Diseases related with Autoimmunity and Paraplegia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Paraplegia 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 VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

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 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 AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME


AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease|tppii deficiency|triangle disease|tripeptidyl-peptidase ii deficiency|evans syndrome associated with primary immunodeficien

Related symptoms:

  • Splenomegaly
  • Respiratory tract infection
  • Autoimmunity
  • Stroke
  • Lymphadenopathy


SOURCES: ORPHANET MENDELIAN

More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME

Low match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match THYROTOXIC PERIODIC PARALYSIS


Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Paraplegia

Symptoms // Phenotype % cases
Tremor Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Hemiparesis Uncommon - Between 30% and 50% cases
Hemiplegia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Paralysis Autoimmune thrombocytopenia Ataxia Splenomegaly Muscle weakness Fever Seizures Immunodeficiency Headache Tetraplegia Stroke Hemolytic anemia Autoimmune hemolytic anemia Anemia Peripheral neuropathy Vomiting Behavioral abnormality

Rare Symptoms - Less than 30% cases


Spasticity Pure red cell aplasia Systemic lupus erythematosus Lymphopenia Spastic tetraparesis Combined immunodeficiency Aphasia EMG abnormality Thrombocytosis Tetraparesis Antiphospholipid antibody positivity Ophthalmoparesis Pallor Lupus anticoagulant Muscular hypotonia Developmental regression Generalized hypotonia Failure to thrive Mental deterioration Weight loss Cerebral vasculitis Recurrent lower respiratory tract infections Recurrent viral infections Hyperreflexia Visual impairment Dysarthria Motor delay Cutis marmorata Recurrent otitis media Recurrent bacterial infections Skin rash Personality changes Peripheral demyelination Sensory impairment Confusion Nausea Optic atrophy Dilatation Abdominal pain Myalgia Otitis media Hyperkalemia Visual loss Purpura Vasculitis Sinusitis Ophthalmoplegia Lymphadenopathy Respiratory failure Hypokalemia Anaphylactic shock Abnormal renal physiology Obesity Hyporeflexia Constipation Hyperhidrosis Prolonged QT interval Proptosis Lower limb muscle weakness Mildly elevated creatine phosphokinase Ventricular fibrillation Tachycardia Recurrent upper and lower respiratory tract infections Palpitations Muscle stiffness Myotonia Goiter Muscle cramps Bloody diarrhea Hemolytic-uremic syndrome Recurrent infections Abnormal lung morphology Inflammatory abnormality of the skin Eosinophilia Eczema Recurrent skin infections Osteomyelitis Increased antibody level in blood Asthma Pericarditis Coarse facial features Recurrent sinusitis Recurrent fungal infections Subarachnoid hemorrhage Atopic dermatitis Abnormality of the dentition Neoplasm Schistocytosis Microangiopathic hemolytic anemia Increased blood urea nitrogen Meningitis Neonatal hyperbilirubinemia Esophagitis Recurrent sinopulmonary infections Hyperthyroidism Episodic hypokalemia Rhabdomyolysis Memory impairment Impaired T cell function Hypouricemia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Brain abscess Lymph node hypoplasia Abnormality of B cell physiology Dementia Facial palsy Vertigo Nephropathy Chorea Migraine Myocardial infarction Recurrent upper respiratory tract infections Intracranial hemorrhage Heart murmur Visual field defect Atrophic scars Transient ischemic attack Acrocyanosis Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Spastic diplegia Recurrent urinary tract infections Thyroiditis Late-onset proximal muscle weakness Hashimoto thyroiditis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Urinary retention Periodic paralysis Abnormality of muscle fibers Postprandial hyperglycemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Respiratory paralysis Spastic tetraplegia Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Elevated serum creatinine Decreased urinary potassium Transient hypophosphatemia Thyrotoxicosis with toxic single thyroid nodule Thyrotoxicosis with toxic multinodular goitre Intellectual disability Delayed speech and language development Babinski sign Pneumonia Abnormal pyramidal sign Lymphoma Preeclampsia Bulbar palsy Microscopic hematuria Hypertonia Panniculitis Retinal arterial occlusion Central retinal artery occlusion Global developmental delay Hearing impairment Nystagmus Sensorineural hearing impairment Cognitive impairment Feeding difficulties Gait disturbance Hydrocephalus Blindness Abnormality of metabolism/homeostasis Granulocytopenia Recurrent respiratory infections Pes cavus Reduced visual acuity EEG abnormality Rigidity Muscular hypotonia of the trunk Irritability Protruding ear Abnormality of the cerebral white matter Falls Sensory neuropathy Neurodegeneration Erythema nodosum Immune dysregulation Brain atrophy Hepatosplenomegaly Neuronal loss in central nervous system Hyperkinesis Autoimmune antibody positivity Ocular pain Neuritis Abnormality of brain morphology Optic neuritis CSF pleocytosis Functional abnormality of the bladder Recurrent singultus Myelitis Hepatomegaly Elevated hepatic transaminase Hypercoagulability Arthritis Abnormality of the liver Papule Decreased antibody level in blood Pancytopenia Foot dorsiflexor weakness Leukopenia Ischemic stroke Cerebral hemorrhage Leukocytosis Agitation Elevated erythrocyte sedimentation rate Raynaud phenomenon Generalized myoclonic seizures Optic disc pallor Reticulocytosis Renal insufficiency Areflexia Limb muscle weakness Polyneuropathy Esotropia Respiratory insufficiency Acute demyelinating polyneuropathy Respiratory tract infection Hepatitis Moderate global developmental delay Fatigue Respiratory distress Diarrhea Thrombocytopenia Ptosis Arrhythmia Jaundice Proteinuria Abnormality of the kidney Nausea and vomiting Hematuria Coma Abnormal bleeding Increased serum lactate Hyperbilirubinemia Glomerulonephritis Prolonged neonatal jaundice Acute kidney injury Dysphagia Abnormal flash visual evoked potentials Frequent falls Opisthotonus Progressive muscle weakness Clonus Leukodystrophy Sensorimotor neuropathy Horizontal nystagmus Paraparesis Spastic paraparesis CNS hypomyelination Decreased nerve conduction velocity Postural tremor Hemiplegia/hemiparesis Global brain atrophy Progressive spasticity Unexplained fevers Ankle clonus Hyperactive deep tendon reflexes Episodic fever Increased CSF protein Diffuse cerebral atrophy Motor deterioration Abnormality of the thumb Demyelinating peripheral neuropathy Cloverleaf skull Aplasia/Hypoplasia of the abdominal wall musculature CNS demyelination Abnormal nerve conduction velocity Decerebrate rigidity Vascular skin abnormality



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