Cognitive impairment, and Eosinophilia

Diseases related with Cognitive impairment and Eosinophilia

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


Top matches:

Medium match CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME


Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP; see this term), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia.

CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME Is also known as psp|steele-richardson-olszewski disease|steele-richardson-olszewski syndrome|classic psp syndrome|richardson syndrome

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC PROGRESSIVE SUPRANUCLEAR PALSY SYNDROME

Low match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

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Other less relevant matches:

Low match AICARDI-GOUTIERES SYNDROME 2; AGS2


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Low 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

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Low match HEREDITARY FOLATE MALABSORPTION


Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.

HEREDITARY FOLATE MALABSORPTION Is also known as congenital folate malabsorption

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HEREDITARY FOLATE MALABSORPTION

Low match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

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

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Thrombocytopenia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Immunodeficiency Splenomegaly Congestive heart failure Failure to thrive Pancytopenia Anemia Leukopenia Strabismus Fever Neoplasm Encephalitis Growth delay Short stature Hepatosplenomegaly Spasticity Aspiration Motor delay Lymphadenopathy Myopia Pulmonary arterial hypertension Ataxia Meningitis Increased antibody level in blood Cataract Hepatomegaly Dyspnea Hypertonia Hyperreflexia Dilatation Irritability Pneumonia

Rare Symptoms - Less than 30% cases


Severe combined immunodeficiency Feeding difficulties in infancy Hypertrophic cardiomyopathy Osteopenia Corneal opacity Lymphoma Apraxia Abnormality of skin pigmentation Babinski sign Decreased antibody level in blood Dementia Cardiomyopathy Hepatic failure Bruising susceptibility Fatigue Clumsiness Headache Abdominal pain Cerebral atrophy Abnormality of the coagulation cascade Cellular immunodeficiency Histiocytosis Scoliosis Tremor Sepsis Gait disturbance Umbilical hernia Recurrent upper respiratory tract infections Skin rash Behavioral abnormality Diarrhea Gastroesophageal reflux Recurrent infections Vomiting Hemiparesis Dystonia Recurrent respiratory infections Respiratory failure Myoclonus Hernia Leukemia Encephalopathy Hypertelorism Leukocytosis Micrognathia Cerebral calcification Abnormal facial shape Basal ganglia calcification Memory impairment Microcephaly Lymphocytosis Posteriorly rotated ears Supranuclear gaze palsy Osteolysis Progressive neurologic deterioration Syncope Anorexia Mental deterioration Increased serum ferritin Nystagmus Stroke Falls Abdominal distention Abnormal bleeding Neurodegeneration Parkinsonism Tetraplegia Gliosis Hemolytic anemia Confusion Hyperbilirubinemia Cheilitis Normocytic anemia Coma Hypertriglyceridemia Oral ulcer Folate deficiency Glossitis Abnormality of the liver Abnormality of the nervous system Folate-responsive megaloblastic anemia Elevated hepatic transaminase Jaundice Proximal amyotrophy Peripheral demyelination Megaloblastic anemia Myopathic facies Drowsiness Decreased beta-glucocerebrosidase protein and activity Severe global developmental delay Short philtrum Narrow mouth Upslanted palpebral fissure Agenesis of corpus callosum Absent speech Abnormality of the dentition Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Puberty and gonadal disorders Prominent nose Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Hirsutism Narrow forehead Macrocytic anemia Nausea and vomiting Abnormality of the immune system Athetosis Increased body weight Chronic diarrhea Recurrent urinary tract infections Focal-onset seizure Neutropenia Dyskinesia Abnormality of movement Malabsorption Pallor Spastic tetraplegia Respiratory tract infection Skeletal muscle atrophy Peripheral neuropathy Pulmonary artery stenosis Natal tooth Increased intracranial pressure Psoriasiform dermatitis Wormian bones Lymphopenia Inflammatory abnormality of the skin Short palpebral fissure Purpura Abnormal natural killer cell physiology Hypoalbuminemia Bicuspid aortic valve Cystic hygroma Neurofibromas Abnormality of color vision Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Azoospermia Abnormality of the vertebral column Plagiocephaly Lymphedema Amblyopia Left ventricular hypertrophy Primary amenorrhea Low posterior hairline Ventricular hypertrophy Coarctation of aorta Amenorrhea Wide intermamillary distance Webbed neck Dental malocclusion Male infertility Neuroblastoma High, narrow palate Hypoplastic aortic arch Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Lymphangioma Abnormality of blood and blood-forming tissues Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Triangular face Facial asymmetry Hemiplegia Partial albinism Pain Sensorineural hearing impairment Periorbital edema Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Increased LDL cholesterol concentration Ptosis Hemophagocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased CSF protein Pulmonary infiltrates Episodic fever Combined immunodeficiency Albinism Hyponatremia Cryptorchidism Low-set ears Pulmonic stenosis Abnormal heart morphology Hypotrichosis Broad forehead Abnormal cardiac septum morphology Sparse hair Postnatal growth retardation Low-set, posteriorly rotated ears Kyphoscoliosis Polyhydramnios Proptosis Hypogonadism Rod-cone dystrophy Constipation Patent ductus arteriosus High palate Clinodactyly Pectus excavatum Abnormality of cardiovascular system morphology Intellectual disability, mild Edema Atrial septal defect Short neck Ventricular septal defect Downslanted palpebral fissures Brachydactyly Epicanthus Depressed nasal bridge Feeding difficulties Esodeviation Abnormality of eye movement Generalized osteosclerosis Mitochondrial myopathy Inferior vermis hypoplasia Fatty replacement of skeletal muscle Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Right ventricular hypertrophy Cardiorespiratory arrest Meningocele Hypoplasia of the brainstem Exercise-induced lactic acidemia Abnormality of mitochondrial metabolism Premature ovarian insufficiency Abnormal electroretinogram Easy fatigability Ragged-red muscle fibers Tachypnea Corneal dystrophy Exercise intolerance Cardiac arrest Esotropia Infantile axial hypotonia Abnormal muscle fiber protein expression Increased serum lactate Retinal detachment Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Blue sclerae Abnormal blistering of the skin Hypodontia Delayed eruption of teeth Oral cleft Depletion of mitochondrial DNA in muscle tissue Finger syndactyly Attention deficit hyperactivity disorder Camptodactyly of finger Erythema Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Alopecia Microphthalmia Visual impairment Aciduria Generalized muscle weakness Abnormality of dental morphology Diplopia Aphasia Blurred vision Alzheimer disease Stridor Postural tremor Akinesia Oral-pharyngeal dysphagia Apathy Slurred speech Mutism Frequent falls Limb dystonia Bradykinesia Neuronal loss in central nervous system Brain atrophy Postural instability Cough Apnea Rigidity Photophobia Dysphagia Dysarthria Neurofibrillary tangles Hypoventilation Lactic acidosis Granulovacuolar degeneration Congenital cataract Acidosis Glaucoma Cerebellar hypoplasia Myopathy Respiratory distress Respiratory insufficiency Hypertension Muscle weakness Frontolimbic dementia Neuronal loss in basal ganglia Frontotemporal dementia Eyelid apraxia Frontal release signs Retrocollis Abnormal saccadic eye movements Vertical supranuclear gaze palsy Axial dystonia Parkinsonism with favorable response to dopaminergic medication Gait imbalance Tics Central apnea Aspiration pneumonia Hypopigmented skin patches Keratitis Abnormality of the spleen Cirrhosis Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Epistaxis Abnormality of the cardiovascular system Cyanosis Generalized myoclonic seizures Ascites Hematuria Delayed puberty Spastic paraparesis Neurological speech impairment Abnormality of the eye Proteinuria Arthritis EEG abnormality Osteoporosis Delayed skeletal maturation Arrhythmia Depressivity Kyphosis Increased bone mineral density Oculomotor apraxia Reduced natural killer cell activity Exertional dyspnea Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Vertebral compression fractures Edema of the lower limbs Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Aseptic necrosis Pathologic fracture Reduced bone mineral density Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Osteomyelitis Menorrhagia Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Fulminant hepatitis Pharyngitis Hemiplegia/hemiparesis Deviation of finger Optic atrophy Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Abnormal chorioretinal morphology Absent hand Retinal hemorrhage Asymmetric growth Supernumerary ribs Cerebral ischemia Pruritus Verrucae Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Telangiectasia of the skin Supernumerary nipple Spastic paraplegia Paraplegia Non-Hodgkin lymphoma Aplastic anemia Burkitt lymphoma Hepatic necrosis Pure red cell aplasia Dysgammaglobulinemia Increased IgM level Chorioretinitis Granulomatosis Hepatic encephalopathy Recurrent pharyngitis Immune dysregulation B-cell lymphoma Clonus Agammaglobulinemia IgG deficiency Hodgkin lymphoma Sarcoma Bone marrow hypocellularity Vasculitis Bronchiectasis Chronic CSF lymphocytosis Knee clonus Muscle stiffness Leukodystrophy Postductal coarctation of the aorta



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