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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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 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
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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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
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
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
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
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
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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