Ataxia, and Hematuria

Diseases related with Ataxia and Hematuria

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


Top matches:

Medium match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Medium match RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS


Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Medium match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

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Other less relevant matches:

Low match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Low match GAUCHER DISEASE, TYPE I


Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

Low match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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 GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Top 5 symptoms//phenotypes associated to Ataxia and Hematuria

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Edema Abdominal pain Dementia Arthritis Splenomegaly Global developmental delay Fatigue Nystagmus Pancytopenia Anorexia Pulmonary arterial hypertension Thrombocytopenia Depressivity Pericardial effusion Mental deterioration Intellectual disability Ascites Aseptic necrosis Lymphadenopathy Arrhythmia Epistaxis Generalized hypotonia Vomiting Diarrhea Short stature Failure to thrive Spasticity Hepatomegaly Strabismus Dyspnea Visual impairment Nephropathy Osteolysis Retinopathy Hypertonia Abnormal myocardium morphology Dystonia Cirrhosis Increased susceptibility to fractures Increased antibody level in blood Interstitial pulmonary abnormality Meningitis Vasculitis Vertebral compression fractures Multiple myeloma Congestive heart failure Hydrocephalus Erlenmeyer flask deformity of the femurs Muscular hypotonia Increased bone mineral density Generalized myoclonic seizures Bone pain Osteoporosis Muscle weakness Peripheral neuropathy Headache Pneumonia Arthralgia Myalgia Cough Feeding difficulties Dysphagia Delayed skeletal maturation Recurrent respiratory infections Growth delay Hepatosplenomegaly Abnormality of eye movement Hyperreflexia Abnormality of the eye Scoliosis Restrictive ventilatory defect Delayed puberty

Rare Symptoms - Less than 30% cases


Irritability Mitral valve calcification Aortic valve calcification Hydrops fetalis Bruising susceptibility Hyperkinesis Ophthalmoplegia Oral-pharyngeal dysphagia Hypersplenism Hypertension Gait disturbance Encephalopathy Neurological speech impairment Aspiration Pathologic fracture Aspiration pneumonia Abnormality of extrapyramidal motor function Microcephaly Leukopenia Osteopenia EEG abnormality Corneal opacity Abdominal distention Abnormal bleeding Orthopnea Syncope Cyanosis Progressive neurologic deterioration Decreased body weight Oculomotor apraxia Spontaneous hematomas Kyphosis Cholelithiasis Portal hypertension Abnormality of the thorax Clubbing Menorrhagia Periorbital edema Petechiae Exertional dyspnea Generalized osteosclerosis Abnormality of the spleen Hepatocellular carcinoma Myoclonus Myopia Abnormal facial shape Flexion contracture Cataract Low-set ears Tremor Cerebral cortical atrophy Macrotia Difficulty walking Hip dislocation Malabsorption Abnormality of skin pigmentation Delayed speech and language development Neoplasm Chorea Motor delay Recurrent urinary tract infections Megaloblastic anemia Opisthotonus Hypoalbuminemia Aggressive behavior Rigidity Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Cognitive impairment Supranuclear gaze palsy Avascular necrosis of the capital femoral epiphysis Ptosis Behavioral abnormality Pulmonary infiltrates Hemoptysis Pericarditis Recurrent pharyngitis Abnormality of the pleura Hemiplegia/hemiparesis Hearing impairment Optic atrophy Shock Weight loss Lymphopenia Cerebral palsy Paresthesia Apraxia Dysarthria Abnormal lung morphology Visual loss Fever Respiratory insufficiency Respiratory distress Elevated erythrocyte sedimentation rate Nausea and vomiting Lower limb muscle weakness Confusion Stroke Lower limb hyperreflexia Memory impairment Reduced visual acuity Migraine Glomerulopathy Abnormal heart valve morphology Abnormality of the sternum Abnormal retinal morphology Clinodactyly Bulbar palsy Intention tremor Pulmonary fibrosis Brain atrophy Thoracic kyphosis Abnormality of the acoustic reflex Laryngospasm High palate Thyroid dysgenesis Micrognathia Hypertelorism Projectile vomiting Sleep myoclonus Intellectual disability, mild Slow saccadic eye movements Abnormality of ion homeostasis Abnormal saccadic eye movements Abnormal thrombosis Astrocytosis Neurodegeneration Protein-losing enteropathy Restrictive deficit on pulmonary function testing Hypercoagulability Progressive cerebellar ataxia Vascular calcification Generalized tonic-clonic seizures Self-mutilation Bladder stones Excessive purine production Esodeviation Fractures of the long bones Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Dyslexia Abnormality of bone marrow cell morphology Flank pain Gout Arthralgia of the hip Abnormal platelet function Hyperuricemia Abnormal pyramidal sign Athetosis Proximal placement of thumb Self-injurious behavior Finger clinodactyly Spastic gait Stereotypy Nephrolithiasis Clumsiness Epicanthus Biliary tract obstruction Puberty and gonadal disorders Choreoathetosis Clinodactyly of the 5th finger Pallor Hypoplasia of the ear cartilage Cerebellar atrophy Intrauterine growth retardation Heterotopia Hypotelorism Nephrotic syndrome Camptodactyly Spastic tetraplegia Hypsarrhythmia Small nail Pachygyria Postnatal microcephaly Narrow forehead Progressive microcephaly Joint contracture of the hand Opacification of the corneal stroma Severe muscular hypotonia Muscular hypotonia of the trunk Lissencephaly Adducted thumb Chronic kidney disease Oligohydramnios Sloping forehead Hypoplasia of the brainstem Poor speech Gliosis Tetraplegia Hypopigmentation of the skin Sleep disturbance Inability to walk Arachnodactyly Talipes Abnormality of the foot Dandy-Walker malformation Severe global developmental delay Small for gestational age Delayed myelination Camptodactyly of finger Wide mouth Premature birth Abnormality of the kidney Prominent nose Glomerulosclerosis Gastroesophageal reflux Talipes equinovarus Midface retrusion Diaphragmatic eventration Diffuse mesangial sclerosis Axial dystonia Hernia Abnormality of the intervertebral disk Congenital nephrotic syndrome Absent speech Dilatation Hand clenching Albuminuria Encephalomalacia Cerebral atrophy Microphthalmia Abnormality of the dentition Limitation of joint mobility Hypoplasia of the corpus callosum Ventriculomegaly Narrow nasal ridge Abnormal renal physiology Flat occiput Proportionate short stature Focal segmental glomerulosclerosis Abnormality of neuronal migration Slender finger Hypothyroidism Congenital hypothyroidism Abnormality of immune system physiology Pes cavus Hypoplasia of the iris Spastic ataxia Hiatus hernia Cerebellar hypoplasia Adrenal hypoplasia Mild microcephaly Esophagitis Tubular atrophy Diffuse cerebral atrophy Aqueductal stenosis Prominent nasal bridge Metabolic acidosis Edema of the lower limbs Cranial nerve paralysis Uveitis Irregular hyperpigmentation Emphysema Nephritis Pleural effusion Urticaria Reduced tendon reflexes Joint dislocation Angioedema Conjunctivitis Recurrent bacterial infections Lymphoma Sensory neuropathy Pruritus Skin rash Autoimmunity Sensorineural hearing impairment Inflammatory abnormality of the eye Complement deficiency Diminished ability to concentrate Hepatic failure Visual field defect Diabetes insipidus Ophthalmoparesis Skin ulcer Diplopia Optic disc pallor Sudden cardiac death Vertigo Immunologic hypersensitivity Joint stiffness Conductive hearing impairment Hyperhidrosis Alopecia Blindness Small vessel vasculitis Obstructive lung disease Episcleritis Punctate vasculitis skin lesions Progressive forgetfulness Aortic dissection Pancreatitis Chills Reduced consciousness/confusion Chronic lung disease Myocarditis Cellulitis Hyponatremia Encephalitis Bone marrow hypocellularity Elevated hepatic transaminase Hallucinations Hepatitis Hypotension Chest pain Sepsis Nausea Jaundice Respiratory failure Endocarditis Sensory impairment Focal white matter lesions Brain neoplasm Vasculitis in the skin Retinal exudate Central nervous system degeneration Limb pain Retinal hemorrhage Micronodular cirrhosis Abnormality of the retinal vasculature Macular edema Progressive visual loss Raynaud phenomenon Chronic sinusitis Abnormality of the periventricular white matter Leukoencephalopathy Leukodystrophy Sinusitis Telangiectasia Hemiparesis Gangrene Cerebral ischemia Increased serum ferritin Atrophy of the spinal cord Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Hemolytic-uremic syndrome Decreased methionine synthase activity Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Thromboembolism Disproportionate tall stature Decreased adenosylcobalamin Vitamin B12 deficiency Ectopia lentis Spastic paraparesis Bipolar affective disorder Gingival bleeding Protuberant abdomen Abnormality of coagulation Osteomyelitis Leukocytosis Reduced bone mineral density Hepatic fibrosis Cystathioninuria Osteoarthritis Abnormality of the cardiovascular system Parkinsonism Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Apathy Hemiplegia Arterial thrombosis Retinal arteritis Vertical supranuclear gaze palsy Chronic fatigue Macular atrophy Stridor Hyperpigmentation of the skin Abnormality of the skeletal system Jaw claudication Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Gait ataxia Arteritis Glossitis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Abnormal thrombocyte morphology Intellectual disability, severe Acidosis Slurred speech Hepatic steatosis Atherosclerosis Abnormality of retinal pigmentation Broad-based gait Psychosis Pigmentary retinopathy Aciduria Urinary incontinence Neutropenia Hemolytic anemia High forehead Joint hypermobility Long face Retinal degeneration Unsteady gait Smooth philtrum Congenital cataract Lethargy Feeding difficulties in infancy Podagra



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Small for gestational age, related diseases and genetic alterations Visual impairment and Gait ataxia, related diseases and genetic alterations High palate and Fatigue, related diseases and genetic alterations Low-set ears and Proptosis, related diseases and genetic alterations Nystagmus and Inflammation of the large intestine, related diseases and genetic alterations

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