Cognitive impairment, and Encephalitis

Diseases related with Cognitive impairment and Encephalitis

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


Top matches:

Medium match IMMUNODEFICIENCY 37; IMD37


Related symptoms:

  • Seizures
  • Immunodeficiency
  • Recurrent infections
  • Respiratory tract infection
  • Decreased antibody level in blood


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 37; IMD37

Medium match ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8


ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Medium match LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES


Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.

LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES Is also known as limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies

Related symptoms:

  • Seizures
  • Neoplasm
  • Confusion
  • Sleep disturbance
  • Memory impairment


SOURCES: ORPHANET MENDELIAN

More info about LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES

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Other less relevant matches:

Medium 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

Medium match CRIGLER-NAJJAR SYNDROME, TYPE II


The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (OMIM ), Rotor syndrome (OMIM ), and several forms of intrahepatic cholestasis ({147480}, {211600}, {214950}, {243300}). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).

CRIGLER-NAJJAR SYNDROME, TYPE II Is also known as hblrcn2|hyperbilirubinemia, crigler-najjar type ii

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment
  • Jaundice


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRIGLER-NAJJAR SYNDROME, TYPE II

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Medium match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Medium 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

Medium match NEUROCUTANEOUS MELANOCYTOSIS


Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Medium match HARTNUP DISEASE


Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Fever Common - Between 50% and 80% cases
Hemiparesis Uncommon - Between 30% and 50% cases
Lethargy Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Memory impairment Confusion EEG abnormality Mental deterioration Intellectual disability Diarrhea Neoplasm Dysarthria Muscular hypotonia Meningitis Spasticity Recurrent infections Ataxia Decreased antibody level in blood Global developmental delay Generalized hypotonia

Rare Symptoms - Less than 30% cases


Hyperreflexia Splenomegaly Vertigo Leukoencephalopathy Anemia Hepatomegaly Unsteady gait Thrombocytopenia Hydrocephalus IgG deficiency Agammaglobulinemia Dysgammaglobulinemia Gait disturbance Increased IgM level Abnormality of the liver Emotional lability Chronic diarrhea Gingivitis Progressive neurologic deterioration Vomiting Delusions Herpes simplex encephalitis Gliosis Encephalopathy Venous thrombosis Recurrent lower respiratory tract infections Hepatocellular carcinoma IgA deficiency Generalized hirsutism Cranial nerve paralysis Cholangiocarcinoma Recurrent bacterial infections Thickened skin Renal hypoplasia/aplasia Arnold-Chiari malformation Involuntary movements Clumsiness Melanoma Choreoathetosis Recurrent otitis media Abnormality of retinal pigmentation Abnormality of the nervous system Dandy-Walker malformation Cholangitis Chronic hepatitis Intracranial hemorrhage IgM deficiency Decreased T cell activation Impaired Ig class switch recombination Absence of lymph node germinal center Stomatitis Enlarged tonsils Nevus Agranulocytosis Opportunistic infection IgE deficiency Impaired memory B cell generation Hypertension Ventriculomegaly Behavioral abnormality Sclerosing cholangitis Increased intracranial pressure Numerous congenital melanocytic nevi Chorioretinal coloboma Abnormality of vision Hepatic steatosis Migraine Aciduria Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Diplopia Hallucinations Aminoaciduria Hypopigmented skin patches Insomnia Malabsorption Irregular hyperpigmentation Bruxism Episodic ataxia Methylmalonic aciduria Abnormal urinary color Mood changes Glossitis Neural tube defect Hyperphenylalaninemia Glabellar reflex Grasp reflex Cirrhosis Skin rash Melanocytic nevus Sepsis Aplasia/Hypoplasia of the cerebellum Abnormality of neuronal migration Generalized hyperpigmentation Syringomyelia Arachnoid cyst Meningocele Spinal cord compression Meningioma Astrocytoma Papilloma Choroid plexus papilloma Short stature Abnormality of the eye Nystagmus Strabismus Ptosis Tremor Hypertonia Headache Depressivity Gait ataxia Gastroesophageal reflux Photophobia Anxiety Otitis media Personality changes Neutropenia Vasculitis Pneumonia Respiratory failure Hepatosplenomegaly Lymphadenopathy Falls Hepatic failure Lymphoma Pancytopenia Bronchiectasis Bone marrow hypocellularity Unconjugated hyperbilirubinemia Sarcoma Increased antibody level in blood Hodgkin lymphoma B-cell lymphoma Aplastic anemia Immune dysregulation Recurrent pharyngitis Cellular immunodeficiency Lymphocytosis Histiocytosis Dilatation Conjugated hyperbilirubinemia Granulomatosis Glioma Respiratory tract infection Status epilepticus Lymphopenia Combined immunodeficiency Edema Obesity Cerebral edema Sleep disturbance Neoplasm of the lung Thymoma Intrahepatic cholestasis Hemianopia Encephalomalacia CNS infection Homonymous hemianopia Severe viral infection Hearing impairment Jaundice Cholestasis Hyperbilirubinemia Ophthalmoparesis Hepatic encephalopathy Chorioretinitis Neurodegeneration Cerebral hypomyelination Paraparesis Spastic paraparesis CNS hypomyelination Premature ovarian insufficiency Axonal degeneration Secondary amenorrhea Progressive encephalopathy Hyperventilation CNS demyelination Primary gonadal insufficiency Leukodystrophy Diffuse leukoencephalopathy Rapid neurologic deterioration Spastic hemiparesis Cessation of head growth Decreased circulating progesterone Failure to thrive Weight loss Carcinoma Autoimmunity Hemolytic anemia Muscle stiffness Spastic gait Pure red cell aplasia Macrocephaly Hepatic necrosis Burkitt lymphoma Non-Hodgkin lymphoma Pharyngitis Reduced natural killer cell activity Fulminant hepatitis Muscle weakness Delayed speech and language development Peripheral neuropathy Optic atrophy Primary amenorrhea Blindness Cerebral atrophy Dementia Developmental regression Distal muscle weakness Abnormality of the cerebral white matter Coma Progressive cerebellar ataxia Amenorrhea Peripheral demyelination Neutral hyperaminoaciduria



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