Autoimmunity, and Spastic paraplegia

Diseases related with Autoimmunity and Spastic paraplegia

In the following list you will find some of the most common rare diseases related to Autoimmunity and Spastic 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 AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59


Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Spastic paraplegia

Symptoms // Phenotype % cases
Tremor Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Autoimmune thrombocytopenia Uncommon - Between 30% and 50% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tetraplegia Hemiplegia Hemiparesis Immunodeficiency Splenomegaly Fever Peripheral neuropathy Hypertension Anemia Pain Paralysis Vomiting

Rare Symptoms - Less than 30% cases


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



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