Ataxia, and Eosinophilia

Diseases related with Ataxia and Eosinophilia

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


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Medium match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


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

Medium 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

Medium 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

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Low match MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1


Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). Genetic Heterogeneity of Autosomal Recessive Limb-Girdle Muscular DystrophyAutosomal recessive LGMD is genetically heterogeneous.LGMDR2 (OMIM ), previously symbolized LGMD2B, is caused by mutation in the dysferlin gene (DYSF ) on 2p13. LGMDR3 (OMIM ), previously symbolized LGMD2D, is caused by mutation in the alpha-sarcoglycan gene (SGCA ) on 17q21. LGMDR4 (OMIM ), previously symbolized LGMD2E, is caused by mutation in the beta-sarcoglycan gene (SGCB ) on 4q12. LGMDR5 (OMIM ), previously symbolized LGMD2C, is caused by mutation in the gamma-sarcoglycan gene (SGCG ) on 13q12. LGMDR6 (OMIM ), previously symbolized LGMD2F, is caused by mutation in the delta-sarcoglycan gene (SGCD ) on 5q33. LGMDR7 (OMIM ), previously symbolized LGMD2G, is caused by mutation in the TCAP gene (OMIM ) on 17q12. LGMDR8 (OMIM ), previously symbolized LGMD2H, is caused by mutation in the TRIM32 gene (OMIM ) on 9q33. LGMDR9 (OMIM ), previously symbolized LGMD2I, is caused by mutation in the FKRP gene (OMIM ) on 19q13. LGMDR10 (OMIM ), previously symbolized LGMD2J, is caused by mutation in the titin gene (TTN ) on 2q31. LGMDR11 (OMIM ), previously symbolized LGMD2K, is caused by mutation in the POMT1 gene (OMIM ) on 9q34. LGMDR12 (OMIM ), previously symbolized LGMD2L, is caused by mutation in the ANO5 gene (OMIM ) on 11p14. LGMDR13 (OMIM ), previously symbolized LGMD2M, is caused by mutation in the FKTN gene (OMIM ) on 9q31. LGMDR14 (OMIM ), previously symbolized LGMD2N, is caused by mutation in the POMT2 gene (OMIM ) on 14q24. LGMDR15 (OMIM ), previously symbolized LGMD2O, is caused by mutation in the POMGNT1 gene (OMIM ) on 1p34. LGMDR16 (OMIM ), previously symbolized LGMD2P, is caused by mutation in the DAG1 gene (OMIM ) on 3p21. LGMDR17 (OMIM ), previously symbolized LGMD2Q, is caused by mutation in the PLEC1 gene (OMIM ) on 8q24. LGMDR18 (OMIM ), previously symbolized LGMD2S, is caused by mutation in the TRAPPC11 gene (OMIM ) on 4q35. LGMDR19 (OMIM ), previously symbolized LGMD2T, is caused by mutation in the GMPPB gene (OMIM ) on 3p21. LGMDR20 (OMIM ), previously symbolized LGMD2U, is caused by mutation in the ISPD gene (OMIM ) on 7p21. LGMDR21 (OMIM ), previously symbolized LGMD2Z, is caused by mutation in the POGLUT1 gene (OMIM ) on 3q13.Some forms of autosomal recessive LGMD were reclassified by Straub et al. (2018). LGMD2R was reclassified as a form of myofibrillar myopathy (MFM1 ). For forms previously designated LGMD2W, LGMD2X, and LGMD2Y, see {616827}, {616812}, and {617072}, respectively.For a discussion of autosomal dominant LGMD, see LGMDD1 (OMIM ).

MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1 Is also known as lgmd2|muscular dystrophy, limb-girdle, type 2a|lgmd2a|muscular dystrophy, pelvofemoral|calpainopathy|leyden-moebius muscular dystrophy|muscular dystrophy, limb-girdle, type 2

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1; LGMDR1

Low 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 VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

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

Top 5 symptoms//phenotypes associated to Ataxia and Eosinophilia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Anemia Failure to thrive Generalized hypotonia Hepatomegaly Diarrhea Abdominal pain Leukocytosis Clumsiness Fever Immunodeficiency Thrombocytopenia Sepsis Leukopenia Skin rash Pancytopenia Pneumonia Pain Irritability Purpura Abnormality of the liver Arthritis Microcephaly Vomiting Aspiration Elevated hepatic transaminase Motor delay Spasticity Recurrent infections Increased antibody level in blood Peripheral neuropathy Muscular hypotonia Meningitis Abnormality of the nervous system Granulocytopenia Leukemia

Rare Symptoms - Less than 30% cases


Aphasia Syncope Gliosis Parkinsonism Vasculitis Cerebral atrophy Myoclonus Dementia Dyspnea Myopia Neoplasm Cough Cognitive impairment Myalgia Papule Myopathy Aciduria Increased serum ferritin Episodic fever Normocytic anemia Flexion contracture Combined immunodeficiency Abdominal distention Supranuclear gaze palsy Elevated serum creatine phosphokinase Hemiplegia Optic atrophy Headache Apathy Apraxia Elevated erythrocyte sedimentation rate Neutropenia Stroke Thrombocytosis Delayed skeletal maturation Tremor Hyperreflexia Depressivity Cerebellar atrophy Hypertonia Behavioral abnormality Recurrent respiratory infections Pallor Cataract Decreased antibody level in blood Short stature Arthralgia Malabsorption Fatigue Anorexia Scoliosis Proximal amyotrophy Growth delay Retinal dystrophy Hypertelorism Petechiae Large forehead Severe failure to thrive Extramedullary hematopoiesis Hypoplastic anemia Organic aciduria Strabismus Acrocyanosis Posterior subcapsular cataract Peritonitis Large fontanelles Poor coordination Pharyngitis Recurrent aphthous stomatitis Agenesis of cerebellar vermis Serositis Chills Increased IgA level Neuritis Porokeratosis Nuclear cataract Cholestatic liver disease Erysipelas Uveitis Neutrophilia Optic neuritis Cervical lymphadenopathy Peripheral visual field loss Constipation Subcapsular cataract Normocytic hypoplastic anemia Fluctuating hepatomegaly Fluctuating splenomegaly Blue sclerae Vertigo Infertility Nyctalopia Erythema Morbilliform rash Postnatal growth retardation Frontal bossing Blindness Renal insufficiency Hyperhidrosis Rod-cone dystrophy Nausea Chronic leukemia Amyloidosis Nephrotic syndrome Colitis Hypermelanotic macule Intestinal obstruction Urticaria Conjunctivitis Long eyelashes Optic disc pallor Therapeutic abortion Eczema Dehydration Gastrointestinal hemorrhage Migraine Limitation of joint mobility Glutathione synthetase deficiency Recurrent pneumonia Osteoarthritis Congestive heart failure Abnormality of bone marrow cell morphology Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Spontaneous hematomas Cardiac valve calcification Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Hematological neoplasm Horizontal supranuclear gaze palsy Edema of the lower limbs Hypodontia Delayed ability to walk Myopathic facies Oligodontia Narrow palpebral fissure Short palpebral fissure Hypsarrhythmia Microdontia Prominent nose Asthma Unsteady gait Feeding difficulties Hypermetropia Attention deficit hyperactivity disorder Anxiety Thin upper lip vermilion Narrow mouth Hyperactivity Long philtrum Abnormality of the dentition Epicanthus Delayed speech and language development Vertebral compression fractures Bipolar affective disorder Kyphosis Abnormality of skin pigmentation Pulmonary arterial hypertension Abnormality of the cardiovascular system Cyanosis Generalized myoclonic seizures Abnormal bleeding Ascites Hematuria Bruising susceptibility Cirrhosis Abnormality of eye movement Progressive neurologic deterioration Delayed puberty Neurological speech impairment Corneal opacity Abnormality of the eye Proteinuria EEG abnormality Osteopenia Osteoporosis Arrhythmia Epistaxis Decreased body weight Hepatocellular carcinoma Menorrhagia Gingival bleeding Protuberant abdomen Aseptic necrosis Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Abnormality of coagulation Osteomyelitis Clubbing Hepatic fibrosis Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Oculomotor apraxia Osteolysis Spastic paraparesis Increased bone mineral density Bone pain Underdeveloped nasal alae Ophthalmoplegia Nevus Abnormality of the coagulation cascade Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased CSF protein Pulmonary infiltrates Severe combined immunodeficiency Albinism Prolonged prothrombin time Hyponatremia Hypoalbuminemia Encephalitis Increased intracranial pressure Hyperbilirubinemia Hypertriglyceridemia Peripheral demyelination Lymphoma Decreased HDL cholesterol concentration Cellular immunodeficiency Coma Plasmacytosis Inability to walk Muscular dystrophy Facial palsy Proximal muscle weakness Difficulty walking Muscle weakness Abnormal natural killer cell physiology Lipogranulomatosis Polyneuritis Histiocytosis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Hemophagocytosis Tetraplegia Hemolytic anemia Limb-girdle muscular dystrophy Monocytosis Nausea and vomiting Respiratory tract infection Feeding difficulties in infancy Gastroesophageal reflux Skeletal muscle atrophy Agranulocytosis Tonsillitis Congenital neutropenia Dyskinesia Acute lymphoblastic leukemia Acute myeloid leukemia Myeloid leukemia Myelodysplasia Recurrent bacterial infections Bone marrow hypocellularity Otitis media Hearing impairment Abnormality of movement Focal-onset seizure Hepatic failure Megaloblastic anemia Confusion Jaundice Encephalopathy Folate-responsive megaloblastic anemia Glossitis Folate deficiency Oral ulcer Cheilitis Drowsiness Cerebral calcification Macrocytic anemia Basal ganglia calcification Abnormality of the immune system Athetosis Recurrent upper respiratory tract infections Increased body weight Chronic diarrhea Recurrent urinary tract infections Scapular winging Calf muscle hypertrophy Progressive cerebellar ataxia Ischemic stroke Erythema nodosum Immune dysregulation Hypercoagulability Raynaud phenomenon Agitation Cerebral hemorrhage Cutis marmorata Foot dorsiflexor weakness Panniculitis Hemiparesis Paraplegia Dilatation Hypertension Frontolimbic dementia Granulovacuolar degeneration Neuronal loss in basal ganglia Eyelid apraxia Antiphospholipid antibody positivity Pure red cell aplasia Retrocollis Cerebral cortical atrophy Triangular face Metabolic acidosis Lactic acidosis Dolichocephaly Low-set, posteriorly rotated ears Hypoglycemia Kyphoscoliosis Acidosis Posteriorly rotated ears Lupus anticoagulant Obesity Edema Downslanted palpebral fissures Low-set ears Abnormal facial shape Nystagmus Central retinal artery occlusion Retinal arterial occlusion Frontal release signs Abnormal saccadic eye movements Myositis Rigidity Memory impairment Brain atrophy Postural instability Neurodegeneration Falls Apnea Mental deterioration Photophobia Bradykinesia Respiratory failure Babinski sign Dystonia Dysphagia Gait disturbance Dysarthria Calf muscle pseudohypertrophy Myofibrillar myopathy Neuronal loss in central nervous system Frequent falls Vertical supranuclear gaze palsy Limb dystonia Axial dystonia Parkinsonism with favorable response to dopaminergic medication Gait imbalance Tics Central apnea Aspiration pneumonia Frontotemporal dementia Hypoventilation Neurofibrillary tangles Diplopia Blurred vision Alzheimer disease Stridor Postural tremor Akinesia Oral-pharyngeal dysphagia Slurred speech Mutism Thin eyebrow



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