Cognitive impairment, and Autoimmunity

Diseases related with Cognitive impairment and Autoimmunity

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


Top matches:

Low match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Low match RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME


Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

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Other less relevant matches:

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 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 SEA-BLUE HISTIOCYTOSIS


A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

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

Low match SYSTEMIC LUPUS ERYTHEMATOSUS


Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus|sle

Related symptoms:

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYSTEMIC LUPUS ERYTHEMATOSUS

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Top 5 symptoms//phenotypes associated to Cognitive impairment and Autoimmunity

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Confusion Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Memory impairment Systemic lupus erythematosus Headache Failure to thrive Dementia Anemia Muscle weakness

Rare Symptoms - Less than 30% cases


Hemolytic anemia Tremor Autoimmune thrombocytopenia Motor delay Edema Visual impairment Hashimoto thyroiditis Antiphospholipid antibody positivity Leukemia Splenomegaly Short stature Gait disturbance Purpura Behavioral abnormality Ataxia Generalized hypotonia Hyperpigmentation of the skin Ptosis Vasculitis Thyroiditis Paresthesia Hepatomegaly Paralysis Global developmental delay Pain Pericarditis Autoimmune hemolytic anemia Aseptic necrosis Pleuritis Epiphyseal stippling Gangrene Raynaud phenomenon Antinuclear antibody positivity Complement deficiency Malar rash Serositis Intellectual disability Scoliosis Hypertelorism Cryptorchidism Low-set ears Delayed speech and language development Epicanthus Abnormality of the thyroid gland Abnormality of the skin Increased antibody level in blood Lupus anticoagulant Thrombocytosis Transient ischemic attack Acrocyanosis Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Fatigue Abnormality of coagulation Midface retrusion Alopecia Arthritis Skin rash Downslanted palpebral fissures Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Leukopenia Nephritis Glomerulonephritis Rheumatoid arthritis Macrocephaly Ventricular hypertrophy Ventricular septal defect Hyperglycemia Abnormality of the nervous system Muscular hypotonia of the trunk Small for gestational age Downturned corners of mouth Dehydration Hypsarrhythmia Progressive neurologic deterioration Aspiration Type I diabetes mellitus Failure to thrive in infancy Bilateral ptosis Polydipsia Radial deviation of finger Polyuria Pneumonia Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Ketoacidosis Aspiration pneumonia Mild global developmental delay Autoimmune antibody positivity Limb joint contracture Pancreatic hypoplasia Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Diabetes mellitus Clinodactyly Short neck Left ventricular hypertrophy Cardiomyopathy Atrial septal defect Patent ductus arteriosus Abnormal heart morphology Hyperkeratosis Polyhydramnios Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Pulmonic stenosis Webbed neck Abnormality of the cardiovascular system Visual field defect Low posterior hairline Relative macrocephaly Long philtrum Hyperextensible skin Pleural effusion Abnormality of the sternum Curly hair Acute lymphoblastic leukemia Graves disease Chylothorax Palmoplantar cutis laxa Flexion contracture Intrauterine growth retardation Anteverted nares Vomiting Short nose Atrophic scars Myalgia Aphasia Immunodeficiency Urinary incontinence Diplopia Muscle stiffness Hyperkinesis Incoordination Emotional lability Brain neoplasm CNS demyelination Urinary hesitancy Fever Diarrhea Recurrent infections Difficulty walking Weight loss Carcinoma Abnormality of the liver Neurodegeneration Neutropenia Sepsis Decreased antibody level in blood Otitis media Recurrent otitis media Choreoathetosis Clumsiness Involuntary movements Scarring Constipation Recurrent bacterial infections Dysmetria Hypertonia Proteinuria Malabsorption Sensory impairment Megaloblastic anemia Poikiloderma Vitamin B12 deficiency Malabsorption of Vitamin B12 Dysphagia Areflexia Ophthalmoplegia Abnormality of movement Impaired vibratory sensation Visual loss Sensory axonal neuropathy ST segment elevation Increased serum pyruvate Positive Romberg sign Limb dysmetria Abnormality of central motor conduction Hearing impairment Nystagmus Neoplasm Spasticity Hyperreflexia Depressivity Chronic diarrhea Leukoencephalopathy Cutis marmorata Facial palsy Cafe-au-lait spot Petechiae Blepharitis Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Sea-blue histiocytosis Hypertension Mental deterioration Hypertriglyceridemia Developmental regression Stroke Vertigo Nephropathy Chorea Migraine Myocardial infarction Hemiparesis Hemiplegia Intracranial hemorrhage Personality changes Heart murmur Subcutaneous nodule Abnormal bleeding Encephalitis Sclerosing cholangitis IgA deficiency Hepatocellular carcinoma IgG deficiency Recurrent lower respiratory tract infections Gingivitis Agammaglobulinemia Cholangitis Stomatitis IgM deficiency Chronic hepatitis Dysgammaglobulinemia Increased IgM level Cholangiocarcinoma Hypopigmentation of the skin Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Enlarged tonsils Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Hepatosplenomegaly Abnormality of the eye Retinopathy Cirrhosis Clinodactyly of the 4th finger



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