Autoimmunity, and Neurodegeneration

Diseases related with Autoimmunity and Neurodegeneration

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


Top matches:

Medium match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Low match IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1


HIGM is a rare immunodeficiency characterized by normal or elevated serum IgM levels associated with markedly decreased IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections and an increased susceptibility to opportunistic infections. Patients with X-linked HIGM also tend to have neutropenia, as well as a high rate of gastrointestinal and central nervous system infections, often resulting in severe liver disease and/or neurodegeneration (summary by Levy et al., 1997). Genetic Heterogeneity of Immunodeficiency with Hyper-IgMOther forms of HIGM include HIGM2 (OMIM ), which results from mutation in the AICDA gene (OMIM ), HIGM3 (OMIM ), which results from mutation in the CD40 gene (OMIM ), and HIGM5 (OMIM ), which results from mutation in the UNG gene (OMIM ). See also HIGM4 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1 Is also known as hyper-igm immunodeficiency, x-linked|hyper-igm syndrome 1|ihis|hyper-igm syndrome|xhim|imd3|higm|immunodeficiency 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1; HIGM1

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 NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE 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 KURU, SUSCEPTIBILITY TO


Kuru, a fatal neurodegenerative condition, is a human prion disease that primarily affected the Fore linguistic group of the Eastern Highlands of Papua New Guinea. Kuru was transmitted by the practice of consuming dead relatives as a mark of respect and mourning ('transumption'). The incidence has fallen dramatically since the cessation of cannibalism in the 1950s (summary by Wadsworth et al., 2008).

Related symptoms:

  • Ataxia
  • Mental deterioration
  • Abnormality of eye movement
  • Unsteady gait
  • Neurodegeneration


SOURCES: OMIM MENDELIAN

More info about KURU, SUSCEPTIBILITY TO

Low match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match NIEMANN-PICK DISEASE TYPE B


Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

Related symptoms:

  • Short stature
  • Growth delay
  • Pain
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE B

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Neurodegeneration

Symptoms // Phenotype % cases
Mental deterioration Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Recurrent infections Thrombocytopenia Hearing impairment Recurrent respiratory infections Cognitive impairment Hepatomegaly Delusions Otitis media Irritability Muscle weakness Growth delay Short stature Intellectual disability Hallucinations Seizures Gliosis Behavioral abnormality Blindness Hydrocephalus Pain Cataract Spasticity Peripheral neuropathy Hyperreflexia

Rare Symptoms - Less than 30% cases


Optic atrophy Apathy Personality changes Optic disc pallor Visual impairment Sensory neuropathy Peripheral demyelination Visual hallucinations Memory impairment Abnormality of the cerebral white matter Tremor Gait disturbance Rigidity Reduced visual acuity Neuronal loss in central nervous system Neoplasm Kyphoscoliosis Scoliosis Hepatosplenomegaly Depressivity Anxiety Cerebral atrophy Kyphosis Intellectual disability, mild Myopathy Abnormality of the skeletal system Confusion Macroglossia Hypertelorism Anemia Global brain atrophy Low anterior hairline Cleft upper lip Small for gestational age Macrotia Pneumonia Short neck Skeletal muscle atrophy Depressed nasal bridge Diffuse cerebral atrophy Increased CSF protein Unsteady gait Dementia Cleft palate Gait ataxia Muscular hypotonia Chronic diarrhea Choreoathetosis B-cell lymphoma Acute leukemia Decreased antibody level in blood Dysgammaglobulinemia Dysarthria Hemolytic anemia Abnormality of the liver Lymphoma Failure to thrive Weight loss Fever Generalized hypotonia Recurrent bacterial infections Leukemia Arthritis Diarrhea Nystagmus Widely spaced teeth Femoral bowing Neurodevelopmental delay Bowing of the legs Bowel incontinence Open bite Flat occiput Heart murmur Abnormality of the sternum Prominent supraorbital ridges Increased intracranial pressure Chronic otitis media Aseptic necrosis Thickened calvaria Bronchitis Limb dystonia Spastic gait Severe sensorineural hearing impairment Patellar dislocation Impaired smooth pursuit Dysostosis multiplex Hydrocele testis Reduced ejection fraction Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Narrow palate Bowing of the long bones Dysphagia Corneal opacity Dysmetria Genu valgum Mild global developmental delay Abnormality of the foot Hypermetropia Neurological speech impairment Hypoplastic scapulae Broad forehead Retinal degeneration Bulbar signs Pectus carinatum Achalasia Respiratory tract infection Umbilical hernia Coarse facial features Skeletal dysplasia Osteopenia Generalized dystonia Thick eyebrow Limb ataxia Pancytopenia Gingival overgrowth Amblyopia Tall stature Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Dystonia Psychosis Type II diabetes mellitus Highly arched eyebrow Hip dysplasia Dental malocclusion Delayed myelination High forehead Progressive cerebellar ataxia Cleft lip Micromelia Oral cleft Synovitis Abnormality of the gingiva Abnormal echocardiogram Hepatic failure Osteoporosis Cataplexy Delirium Dyspnea Sensory ataxia Cirrhosis Excessive daytime somnolence Hypertriglyceridemia Headache Abnormal lung morphology Lewy bodies Onion bulb formation Neurofibrillary tangles Axonal loss Decreased number of peripheral myelinated nerve fibers Severe hearing impairment Narcolepsy Hirano bodies Impulsivity Dysesthesia Truncal ataxia Language impairment Aphasia Blurred vision Visual field defect Muscle fibrillation Supranuclear gaze palsy Cerebral visual impairment Encephalopathy Hemiparesis Normal pressure hydrocephalus Abnormal cerebellum morphology Abnormal pyramidal sign Paralysis Loss of facial expression Myoclonus Extrapyramidal muscular rigidity Osteomyelitis Decreased liver function Thoracolumbar kyphosis Increased vertebral height Hypoplastic inferior ilia Decreased pulmonary function Bone-marrow foam cells Generalized abnormality of skin Increased hepatic glycogen content Sea-blue histiocytosis Diffuse reticular or finely nodular infiltrations Spondylolysis Abnormality of joint mobility Oligosacchariduria Foam cells with lamellar inclusion bodies Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Cranial hyperostosis Vacuolated lymphocytes Abnormality of the ilium Antineutrophil antibody positivity Back pain Paresthesia Progressive hearing impairment Abnormal autonomic nervous system physiology Interstitial pulmonary abnormality Abnormal heart valve morphology Sensory impairment Decreased HDL cholesterol concentration Histiocytosis Hyperhidrosis Abnormality of dental structure Hyporeflexia Abnormality of eye movement Increased LDL cholesterol concentration Abnormal macular morphology Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Distal sensory impairment B lymphocytopenia Mandibular prognathia Falls Leukodystrophy Clonus Progressive muscle weakness Frequent falls Tetraparesis Brain atrophy Generalized myoclonic seizures Protruding ear Horizontal nystagmus Pallor Developmental regression Muscular hypotonia of the trunk EEG abnormality Pes cavus Visual loss Abnormality of metabolism/homeostasis Dilatation Sensorimotor neuropathy EMG abnormality Vomiting Ankle clonus Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Abnormality of the thumb Motor deterioration Autoimmune thrombocytopenia Episodic fever Hyperactive deep tendon reflexes Progressive spasticity Paraparesis Opisthotonus Hemiplegia/hemiparesis Postural tremor Hemiplegia Decreased nerve conduction velocity CNS hypomyelination Spastic tetraparesis Spastic paraparesis Hypertonia Feeding difficulties Abnormal nerve conduction velocity Lung adenocarcinoma Involuntary movements Clumsiness Recurrent otitis media Sepsis Neutropenia Carcinoma Non-Hodgkin lymphoma Lymphocytosis Encephalitis Cellular immunodeficiency Chronic lymphatic leukemia Lymphoproliferative disorder Hodgkin lymphoma Hyperthyroidism Rheumatoid arthritis Systemic lupus erythematosus Lymphadenopathy Leukoencephalopathy IgA deficiency Impaired memory B cell generation Sclerosing cholangitis IgE deficiency Opportunistic infection Agranulocytosis Enlarged tonsils Absence of lymph node germinal center Impaired Ig class switch recombination Decreased T cell activation Cholangiocarcinoma Increased IgM level Hepatocellular carcinoma Chronic hepatitis IgM deficiency Stomatitis Cholangitis Agammaglobulinemia Gingivitis Recurrent lower respiratory tract infections IgG deficiency CNS demyelination Decerebrate rigidity Prominent forehead Rhabdomyosarcoma Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Decrease in T cell count Abnormal hair quantity Glioma Mastoiditis Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality Acute lymphoblastic leukemia Anal stenosis Malar prominence Progressive vitiligo Autoimmune hemolytic anemia Cerebellar atrophy Babinski sign Delayed skeletal maturation Inguinal hernia Areflexia Hernia Midface retrusion Malar flattening Abnormality of the dentition Intellectual disability, severe Strabismus Ventriculomegaly Talipes equinovarus Frontal bossing Macrocephaly Myopia Epicanthus Motor delay Delayed speech and language development Neuroblastoma Abnormality of the musculature Unexplained fevers Retrognathia Prominent nose Anal atresia Prominent nasal bridge Attention deficit hyperactivity disorder Intellectual disability, moderate Abnormality of the nervous system Hydronephrosis Respiratory failure Amenorrhea Hyperactivity Upslanted palpebral fissure Hypospadias Respiratory insufficiency Intrauterine growth retardation Micrognathia Microcephaly Abnormal flash visual evoked potentials Convex nasal ridge Sloping forehead Freckling Lymphopenia Long nose Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Abnormality of the hair Cutaneous photosensitivity Sinusitis Cafe-au-lait spot Telangiectasia Bronchiectasis Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Externally rotated hips



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