Autoimmunity, and Gliosis

Diseases related with Autoimmunity and Gliosis

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


Top matches:

Low match DIABETES INSIPIDUS, NEUROHYPOPHYSEAL


Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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Other less relevant matches:

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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 COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2


Herpes simplex encephalitis (HSE) is a severe viral infection of the central nervous system (CNS) resulting most commonly from infection with HSV-1 and occasionally by HSV-2. The disease peaks in childhood between 3 months and 3 years of age, although later onset can also occur, and affected individuals usually have neurologic sequelae, including seizures and cognitive or motor impairment. Some individuals may have recurrences of an acute episode of HSE; however, patients have no clear susceptibility to infection to other viruses. The virus gains entry to the CNS through a neuronal route via the trigeminal or olfactory nerves, not via the blood. Replication of this enveloped double-stranded DNA (dsDNA) virus involves the production and accumulation of RNA species, including dsRNA, which are recognized by the intracellular TLR3 signaling pathway. The susceptibility to HSV in particular appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the CNS (review by Zhang et al., 2013; summary by Mork et al., 2015).For a general phenotypic description of herpes simplex encephalitis and a discussion of genetic heterogeneity of acute infection-induced encephalopathy, see {610551}.

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2 Is also known as herpes simplex encephalitis, susceptibility to, 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Fever
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2; IIAE2

Low match NARCOLEPSY TYPE 1


Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease|narcoleptic syndrome 1|narcolepsy-cataplexy

Related symptoms:

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


SOURCES: ORPHANET OMIM MENDELIAN

More info about NARCOLEPSY TYPE 1

Low match DEMENTIA, LEWY BODY; DLB


Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).

DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia|diffuse lewy body disease

Related symptoms:

  • Cognitive impairment
  • Dysarthria
  • Depressivity
  • Pneumonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about DEMENTIA, LEWY BODY; DLB

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

Top 5 symptoms//phenotypes associated to Autoimmunity and Gliosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Confusion Ataxia Hallucinations Neoplasm Growth delay Immunodeficiency Depressed nasal bridge Motor delay Myopia Scoliosis Short neck Diarrhea Kyphosis Dementia Delusions Pneumonia Macrotia Global developmental delay Intellectual disability, mild Lymphoma Hearing impairment Lymphopenia Skeletal muscle atrophy Pain Short stature Muscle weakness Neurodegeneration Osteopenia Vomiting Hypertelorism Syncope Fever

Rare Symptoms - Less than 30% cases


Hypertrichosis Cataplexy Narcolepsy Myopathy Generalized hypotonia Headache Diabetes mellitus Hydrocephalus Peripheral neuropathy Abnormal cerebellum morphology Dilatation Nephropathy Hyperhidrosis Cafe-au-lait spot Telangiectasia Splenomegaly Frontal bossing Micrognathia Hepatomegaly Combined immunodeficiency High pitched voice Low anterior hairline Cataract Melanocytic nevus Multiple cafe-au-lait spots Delayed speech and language development Encephalitis Tall stature CNS infection Dysarthria Encephalomalacia Hyperlipidemia Macrocephaly Abnormality of the vasculature Leukemia Hydrocele testis Chronic diarrhea Cerebral atrophy Cellular immunodeficiency Cardiomyopathy Macroglossia Intrauterine growth retardation Hypertension Hepatosplenomegaly Umbilical hernia Increased intracranial pressure Neurofibrillary tangles Hyperactivity Intellectual disability, moderate Lewy bodies Visual hallucinations Recurrent respiratory infections Otitis media Pollakisuria Decreased antibody level in blood Mandibular prognathia Memory impairment Cerebellar atrophy Abnormality of the kidney Corneal opacity Abnormality of the dentition Neuronal loss in central nervous system Bone cyst Lethargy Sensorineural hearing impairment Thrombocytopenia B-cell lymphoma Irritability Congestive heart failure Hypothyroidism Hernia Depressivity Glioma Narrow mouth Carcinoma Papule Joint hypermobility Palmoplantar keratoderma Polymicrogyria Proximal muscle weakness Nausea and vomiting Cranial nerve paralysis Hypoplasia of the maxilla Hypopigmented skin patches Hand polydactyly Intracranial hemorrhage Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hemangioma Overgrowth Drooling Pectus excavatum Neoplasm of the skin Gynecomastia Exotropia Subcutaneous nodule Broad thumb Intention tremor Autism Acute lymphoblastic leukemia Atrial septal defect Hemolytic anemia Cachexia Recurrent pneumonia Abnormality of the hair Sinusitis Bronchiectasis Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Cutaneous photosensitivity Sloping forehead Amenorrhea Convex nasal ridge Prominent nose Cleft upper lip Premature ovarian insufficiency Anal atresia Small for gestational age Prominent nasal bridge Attention deficit hyperactivity disorder Abnormality of the nervous system Hydronephrosis Retrognathia Respiratory failure Upslanted palpebral fissure Hypospadias Respiratory insufficiency Cleft palate Microcephaly Generalized muscular appearance from birth Deep philtrum Abnormality of neuronal migration Tremor Decrease in T cell count Downslanted palpebral fissures Brachydactyly High palate Low-set ears Failure to thrive Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma B lymphocytopenia Abnormal hair quantity Non-midline cleft lip Macule Long nose Freckling Abnormality of the musculature Autoimmune hemolytic anemia Neuroblastoma Anal stenosis Hearing abnormality Rhabdomyosarcoma Acute leukemia Abnormal eyelid morphology Recurrent bronchitis Recurrent sinopulmonary infections Medulloblastoma Abnormality of chromosome stability Cutis marmorata Cavernous hemangioma Abnormality of the thyroid gland Hypersomnia Dyskinesia Falls Ophthalmoplegia Abnormal pyramidal sign Rigidity Hypnopompic hallucinations Sleep paralysis Paroxysmal drowsiness Hypnagogic hallucinations Transient global amnesia Abnormal rapid eye movement sleep Excessive daytime sleepiness Brain neoplasm Bradykinesia Drowsiness Atonic seizures Slurred speech Abnormality of vision Sleep disturbance Paralysis Abnormality of the eye Obesity Severe viral infection Homonymous hemianopia Herpes simplex encephalitis Hemianopia Meningitis Parkinsonism Apraxia EEG abnormality Progressive hearing impairment Sensory ataxia Excessive daytime somnolence Diffuse cerebral atrophy Onion bulb formation Axonal loss Decreased number of peripheral myelinated nerve fibers Severe hearing impairment Global brain atrophy Osteomyelitis Impulsivity Personality changes Apathy Abnormal autonomic nervous system physiology Muscle stiffness Sensory impairment Sensory neuropathy Distal sensory impairment Paresthesia Hyporeflexia Fluctuations in consciousness Vertical supranuclear gaze palsy Senile plaques Supranuclear gaze palsy Loss of consciousness Alzheimer disease Spastic paraparesis Paraparesis Hemiparesis Encephalopathy Multiple lipomas Skin tags Papilloma Enlarged polycystic ovaries Cystic angiomatosis of bone Long penis Intestinal polyposis Ovarian cyst Astrocytoma Abnormality of the uterus Furrowed tongue Arteriovenous malformation Meningioma Megalencephaly Prolactin excess Fibroma Papilledema Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Acute myeloid leukemia Cellulitis Cystic hygroma Hamartomatous polyposis Generalized hyperkeratosis Lobular carcinoma in situ Pseudopapilledema Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Progressive macrocephaly Neoplasm of the central nervous system Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Decreased proportion of CD4-positive T cells Labial hypertrophy Hypoplastic inferior ilia Reduced intrathoracic adipose tissue Protuberant abdomen Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Glomerulopathy Mucopolysacchariduria Steatorrhea Hypermelanotic macule Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Hypoplasia of the capital femoral epiphysis Multiple lentigines Atherosclerosis Epicanthus Inguinal hernia Areflexia Midface retrusion Malar flattening Behavioral abnormality Intellectual disability, severe Ventriculomegaly Talipes equinovarus Abnormality of the skeletal system Gait disturbance Optic atrophy Hyperreflexia Spasticity Steroid-resistant nephrotic syndrome Muscular hypotonia Strabismus Nystagmus Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Increased thyroid-stimulating hormone level Shallow acetabular fossae Azoospermia Opacification of the corneal stroma Babinski sign Dehydration Abnormal facial shape Germinoma Abnormality of the anterior pituitary Hypertonic dehydration Nocturia Central diabetes insipidus Histiocytosis Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Hypotension Renal insufficiency Growth hormone deficiency Coma Wide nose Vertigo Dry skin Weight loss Osteoporosis Constipation Abnormality of metabolism/homeostasis Long philtrum Short nose Fatigue Anemia Thin upper lip vermilion Bone marrow hypocellularity Migraine Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Brain atrophy Proteinuria Neutropenia Bulbous nose Abnormality of skin pigmentation Stage 5 chronic kidney disease Astigmatism Malabsorption Platyspondyly Hip dislocation Stroke Scarring Hyperlordosis Developmental regression Delayed skeletal maturation Prominent forehead Insulin-resistant diabetes mellitus at puberty Generalized abnormality of skin Cirrhosis Hypertrophic cardiomyopathy Elevated hepatic transaminase Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Decreased pulmonary function Increased hepatic glycogen content Hepatic steatosis Increased vertebral height Spondylolysis Oligosacchariduria Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Hirsutism Triangular face Abnormal cornea morphology Lipoatrophy Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Abnormality of the ovary Angina pectoris Long foot Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Polyphagia Epidermal acanthosis Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Lipodystrophy Hyperinsulinemia Polycystic ovaries Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Abnormality of the genital system Hypertriglyceridemia Synovitis Abnormality of the rib cage Gait ataxia Dysmetria Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Dental malocclusion Delayed myelination Progressive cerebellar ataxia Highly arched eyebrow Thick eyebrow Retinal degeneration Genu valgum Progressive neurologic deterioration Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Neurological speech impairment Broad forehead Pectus carinatum Respiratory tract infection Anxiety Arthritis Coarse facial features Skeletal dysplasia Kyphoscoliosis Depressed nasal ridge Bowing of the long bones Craniofacial hyperostosis Femoral bowing Spondylolisthesis Abnormality of the helix Reduced ejection fraction Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Neurodevelopmental delay Amblyopia Bowel incontinence Open bite Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Widely spaced teeth Recurrent bacterial infections Narrow palate Spastic gait Limb ataxia Gingival overgrowth Delirium



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