Intellectual disability, and Encephalitis

Diseases related with Intellectual disability and Encephalitis

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

Top matches:

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

High match UROCANIC ACIDURIA

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.

UROCANIC ACIDURIA Is also known as encephalopathy due to urocanase deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Dysarthria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about UROCANIC ACIDURIA

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Other less relevant matches:

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

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

High 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

Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability and Encephalitis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Encephalitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Generalized hypotonia Recurrent infections Nystagmus Aciduria Encephalopathy Pneumonia Gliosis Muscular hypotonia Tetraplegia EEG abnormality Diarrhea Strabismus Intellectual disability, progressive Spastic tetraplegia Gait ataxia Cerebral cortical atrophy Microcephaly Hypertonia Optic atrophy Spastic diplegia Behavioral abnormality Cerebellar atrophy Hepatitis Vomiting Hemiparesis

Rare Symptoms - Less than 30% cases

Aplasia/Hypoplasia of the cerebellum Motor delay Morphological abnormality of the pyramidal tract Atrophy/Degeneration affecting the brainstem Dysphasia Developmental regression Leukoencephalopathy Dystonia Leukodystrophy Intellectual disability, mild Abnormality of extrapyramidal motor function Myoclonus Neuronal loss in central nervous system Anemia Hydrocephalus Agenesis of corpus callosum Progressive encephalopathy Basal ganglia calcification Systemic lupus erythematosus Cerebral calcification Brain atrophy Abnormality of the cerebral white matter Feeding difficulties in infancy Elevated hepatic transaminase Thrombocytopenia Depressivity Cerebral atrophy Abnormality of the skeletal system Hepatomegaly Abnormality of vision Cirrhosis Skin rash Abnormality of the eye Gastroesophageal reflux Abnormality of movement Feeding difficulties Blindness Growth delay Increased CSF protein Tremor Intellectual disability, severe Gait disturbance Truncal ataxia Rigidity Confusion Coma Hallucinations Mental deterioration Cognitive impairment Dysarthria Mood changes Hearing impairment 3-Methylglutaconic aciduria Phonic tics Cerebral visual impairment Cerebral degeneration Abnormality of the face Paraparesis Recurrent urinary tract infections Multifocal seizures Aganglionic megacolon Depressed nasal ridge Spastic paraparesis Slurred speech Akinesia Microvesicular hepatic steatosis Progressive spasticity Celiac disease Chronic hepatitis Abnormality of visual evoked potentials Severe failure to thrive Gastric ulcer Decreased liver function Tics Thick lower lip vermilion Gastrointestinal dysmotility Micronodular cirrhosis Astrocytosis Bile duct proliferation Fetal akinesia sequence Cholestasis Tented upper lip vermilion Jaundice Hepatic failure Lactic acidosis Peripheral axonal neuropathy Generalized tonic-clonic seizures Abnormality of the liver Paralysis Retrognathia Neurodegeneration Acidosis Respiratory failure Hyperactivity Dementia Areflexia Visual loss Abnormality of fontanelles Increased serum lactate Hepatic fibrosis Profound global developmental delay Self-injurious behavior Clumsiness Ethylmalonic aciduria Male pseudohermaphroditism Volvulus Choreoathetosis Abnormal hemoglobin Focal-onset seizure Progressive neurologic deterioration Status epilepticus Generalized-onset seizure Epileptic encephalopathy Memory impairment U-Shaped upper lip vermilion Epilepsia partialis continua Immunodeficiency Cerebral cortical neurodegeneration Decrease in T cell count Arthralgia/arthritis Spastic paraplegia Nausea and vomiting Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Tubulointerstitial fibrosis Hypopigmented skin patches on arms Cellular immunodeficiency Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Joint stiffness Hypertelorism Dysphagia Midface retrusion Talipes equinovarus Myopia Anteverted nares Brachydactyly Abnormality of the dentition Epicanthus Clinodactyly of the 5th finger Sensorineural hearing impairment Constipation Autism Hydronephrosis Flexion contracture Cryptorchidism Telecanthus Abnormality of the kidney Irregular vertebral endplates Autoimmune thrombocytopenia Low-set ears Everted lower lip vermilion Respiratory tract infection Hyperlordosis Arthritis Arthralgia Skeletal dysplasia Flat face Kyphoscoliosis Platyspondyly Hypothyroidism Macroglossia Severe short stature Recurrent respiratory infections Ambiguous genitalia Hypoplasia of penis Autoimmunity Micromelia Recurrent sinusitis Rheumatoid arthritis Autoimmune hemolytic anemia Scleroderma Hypermelanotic macule Restrictive ventilatory defect Combined immunodeficiency Metaphyseal irregularity Nephritis Lymphadenopathy Purpura Recurrent bacterial infections Rhizomelia Abnormal lung morphology Recurrent otitis media Lumbar hyperlordosis Hemolytic anemia Vitiligo Glaucoma Intrauterine growth retardation Abnormality of the nervous system Tetraparesis Horizontal nystagmus Spastic tetraparesis Global brain atrophy Corpus callosum atrophy Organic aciduria Neoplasm of the nervous system Ependymoma L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric acidemia Severe demyelination of the white matter Neoplasm Hypertension Ventriculomegaly Nevus Abnormal pyramidal sign Melanoma Generalized hyperpigmentation Abnormality of neuronal migration Melanocytic nevus Chorioretinal coloboma Intracranial hemorrhage Increased intracranial pressure Arnold-Chiari malformation Dandy-Walker malformation Renal hypoplasia/aplasia Venous thrombosis Cranial nerve paralysis Generalized hirsutism Abnormality of retinal pigmentation Thickened skin Abnormal cerebellum morphology Atrial septal defect Arachnoid cyst Severe viral infection Action tremor Fair hair Blue irides Hyperactive deep tendon reflexes Broad-based gait Aggressive behavior Homonymous hemianopia Abnormality of histidine metabolism CNS infection Herpes simplex encephalitis Encephalomalacia Hemianopia Meningitis Lethargy Gaze-evoked horizontal nystagmus Urocanic aciduria Macrocephaly Abducens palsy Delayed speech and language development Acute necrotizing encephalopathy Polyneuritis Necrotizing encephalopathy Abnormal muscle tone Acute encephalopathy Abnormal posturing Visual impairment Cerebral edema Severe vision loss Foot dorsiflexor weakness Polyneuropathy Cough Pallor Syringomyelia Meningocele Peripheral neuropathy Severe global developmental delay Poor head control Cerebral palsy Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Peripheral demyelination Irritability Congenital glaucoma Muscular hypotonia of the trunk Hepatosplenomegaly Dilatation Splenomegaly Neutral hyperaminoaciduria Grasp reflex Petechiae Prolonged neonatal jaundice Hyperphenylalaninemia CSF lymphocytic pleiocytosis Micrognathia Failure to thrive Increased CSF interferon alpha Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains Multiple gastric polyps Episodic fever Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Diffuse cerebral atrophy Acrocyanosis Glabellar reflex Neural tube defect Spinal cord compression Headache Hepatic steatosis Vertigo Unsteady gait Malabsorption Anxiety Photophobia Hyperreflexia Abnormal blistering of the skin Ptosis Numerous congenital melanocytic nevi Choroid plexus papilloma Papilloma Astrocytoma Meningioma Migraine Psychosis Glossitis Irregular hyperpigmentation Abnormal urinary color Methylmalonic aciduria Episodic ataxia Bruxism Gingivitis Delusions Insomnia Cutaneous photosensitivity Emotional lability Hypopigmented skin patches Aminoaciduria Diplopia Chronic diarrhea Inflammatory abnormality of the skin Abnormality of the male genitalia


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