Intellectual disability, severe, and Meningitis

Diseases related with Intellectual disability, severe and Meningitis

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

Top matches:

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

Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

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

Other less relevant matches:

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

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

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Medium match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Meningitis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Encephalitis Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Aciduria Intellectual disability, progressive Hepatosplenomegaly EEG abnormality Macrocephaly Anemia Fever Vomiting Ataxia

Rare Symptoms - Less than 30% cases

Pain CNS infection Leukocytosis Prolonged neonatal jaundice Spasticity Tented upper lip vermilion Anisocytosis Poikilocytosis Abnormal facial shape Sensorineural hearing impairment Hypertelorism Abnormality of the liver Nystagmus Recurrent infections Lethargy Neutropenia Motor delay Optic atrophy Atrial septal defect Cerebellar atrophy Hepatomegaly Gliosis Failure to thrive Splenomegaly Mental deterioration Short stature Gastroesophageal reflux Myalgia Aggressive behavior Gait ataxia Ptosis Low-set ears Depressed nasal bridge Cerebral cortical atrophy Hyperbilirubinemia Downslanted palpebral fissures Cirrhosis Jaundice Wide nasal bridge Behavioral abnormality Fatigue Brachydactyly Encephalopathy Recurrent respiratory infections Posteriorly rotated ears Myoclonus Hyperactivity Truncal ataxia Feeding difficulties Abdominal pain Gastrointestinal hemorrhage Agranulocytosis Tonsillitis Acidosis Hypoglycemia Irritability Coma Elevated hepatic transaminase Metabolic acidosis Carious teeth Lactic acidosis Nausea Congenital neutropenia Hepatic failure Hepatic steatosis Nephropathy Monocytosis Leukemia Granulocytopenia Fava bean-induced hemolytic anemia Muscle weakness Pallor Hemolytic anemia Lymphoma Abnormality of the cardiovascular system Back pain Osteomyelitis Hodgkin lymphoma Reticulocytosis Hemoglobinuria Nonspherocytic hemolytic anemia Unconjugated hyperbilirubinemia Decreased liver function Peripheral neuropathy Acute lymphoblastic leukemia Neoplasm Abnormality of the nervous system Sepsis Otitis media Clumsiness Bone marrow hypocellularity Recurrent bacterial infections Eosinophilia Myelodysplasia Increased antibody level in blood Myeloid leukemia Acute myeloid leukemia Thrombocytosis Kernicterus Hypergalactosemia Shock Papule Vasculitis Overgrowth Premature birth Migraine Lymphadenopathy Nausea and vomiting Skin rash Purpura Arthritis Arthralgia Skeletal dysplasia Proptosis Blindness Edema Joint dislocation Increased intracranial pressure Visual impairment Abnormal thrombocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Juvenile rheumatoid arthritis Reduced bone mineral density Uveitis Amyloidosis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Urticaria Frontal bossing Reduced orotidine 5-prime phosphate decarboxylase activity Hypokalemia Recurrent hypoglycemia Homonymous hemianopia Disseminated intravascular coagulation Hypersomnia Hemophagocytosis Proximal tubulopathy Hyperphosphaturia Ketosis Hyperuricosuria Neonatal hypoglycemia Renal tubular acidosis Hyperuricemia Glycosuria Hypophosphatemia Malnutrition Proximal renal tubular acidosis Fructose intolerance Pyrimidine-responsive megaloblastic anemia Abnormality of the ureter Orotic acid crystalluria Folate-unresponsive megaloblastic anemia Oroticaciduria Impaired T cell function Megaloblastic anemia Abnormal toenail morphology Aminoaciduria Bicarbonaturia Hip dysplasia Hematuria Low-set, posteriorly rotated ears Patent ductus arteriosus Immunodeficiency Ventricular septal defect Transient aminoaciduria Severe viral infection Protruding tongue Herpes simplex encephalitis Tetraparesis Global brain atrophy Aplasia/Hypoplasia of the cerebellum Leukoencephalopathy Spastic tetraparesis Horizontal nystagmus Leukodystrophy Abnormality of extrapyramidal motor function Atrophy/Degeneration affecting the brainstem Neuronal loss in central nervous system Abnormal cerebellum morphology Abnormal pyramidal sign Developmental regression Intellectual disability, mild Dystonia Dysphasia Corpus callosum atrophy Muscular hypotonia Microcephaly Hyperreflexia Epicanthus High palate Cryptorchidism Cleft palate Micrognathia Generalized hypotonia Organic aciduria Severe demyelination of the white matter L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria Ependymoma Neoplasm of the nervous system Morphological abnormality of the pyramidal tract Delayed speech and language development Strabismus Anteverted nares Gaze-evoked horizontal nystagmus Abnormality of the dentition Hypoplasia of the corpus callosum Dysphagia Urocanic aciduria Abnormality of histidine metabolism Mood changes Action tremor High forehead Fair hair Blue irides Hyperactive deep tendon reflexes Broad-based gait Tremor Dysarthria Cerebral atrophy Autistic behavior EEG with focal sharp slow waves Abnormality of the periventricular white matter Frontotemporal cerebral atrophy Atypical absence seizures Personality disorder Abnormality of brainstem morphology Generalized tonic seizures Enlarged cisterna magna Atonic seizures Generalized tonic-clonic seizures Relative macrocephaly Gingival overgrowth Epileptic encephalopathy Focal-onset seizure Generalized myoclonic seizures Falls Talipes equinovarus Short neck Encephalomalacia Scrotal hypoplasia Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Mild short stature Bilateral cryptorchidism Radial deviation of finger Infantile muscular hypotonia Asplenia Drooling Widely spaced teeth Increased body weight Narrow face Exotropia Abnormality of the genital system Facial hypotonia Lower limb hypertonia Thick lower lip vermilion Paroxysmal bursts of laughter Hemianopia Hemiparesis Confusion Cognitive impairment Triangular nasal tip Overjet Alternating exotropia Short upper lip Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Open mouth Renal hypoplasia Hypertonia Constipation Coarse facial features Kyphoscoliosis Micropenis Hypogonadism Upslanted palpebral fissure Pneumonia Delayed skeletal maturation Thin upper lip vermilion Clinodactyly Hypospadias Obesity Midface retrusion Malar flattening Short nose Pes planus Telecanthus Narrow forehead Paraplegia Decreased testicular size Vesicoureteral reflux Macroglossia Tapered finger Thick vermilion border Thick eyebrow Genu valgum Abnormality of the kidney Abnormality of the foot Nail dystrophy Spastic paraplegia Dolichocephaly Microtia Wide mouth Abnormal granulocyte morphology


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