Ataxia, and Osteoarthritis

Diseases related with Ataxia and Osteoarthritis

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


Top matches:

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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

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Other less relevant matches:

Low match BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY


Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination.

BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY Is also known as mat deficiency|mat i/iii deficiency|hypermethioninemia, isolated persistent|methionine adenosyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DEMYELINATION DUE TO METHIONINE ADENOSYLTRANSFERASE DEFICIENCY

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA


Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match DYSTONIA, DOPA-RESPONSIVE; DRD


DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Low match JUVENILE HUNTINGTON DISEASE


Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Low 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

Low match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Top 5 symptoms//phenotypes associated to Ataxia and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Rheumatoid arthritis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Scoliosis Fatigue Abdominal pain Hearing impairment Cognitive impairment Hepatomegaly Splenomegaly Parkinsonism Abnormality of eye movement Hyperreflexia Tremor Dystonia Hypertension Gait ataxia Rigidity Anxiety Bradykinesia Obsessive-compulsive behavior Global developmental delay Ascites Osteopenia Arthralgia Pain

Rare Symptoms - Less than 30% cases


Spastic paraplegia Spasticity Thrombocytopenia Abnormality of movement Congestive heart failure Diarrhea Motor delay Irritability Failure to thrive Dementia Growth delay Nystagmus Delayed skeletal maturation Behavioral abnormality Abnormality of the liver Juvenile rheumatoid arthritis Short stature Hepatitis Gait disturbance Arrhythmia Myoclonus Abnormality of skin pigmentation Recurrent respiratory infections Pericardial effusion Diabetes mellitus Hepatocellular carcinoma Increased serum ferritin Meningitis Hepatic fibrosis Anorexia Progressive neurologic deterioration Pancytopenia Hematuria Osteoporosis Testicular atrophy Cirrhosis Lymphadenopathy Cerebral palsy Involuntary movements Abnormality of the eye Proteinuria Abnormal cerebellum morphology Dyspnea Hypogonadism Thin upper lip vermilion Alopecia Homocystinuria Limb dystonia Horizontal nystagmus Torticollis Generalized hypotonia Postural tremor Brisk reflexes Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Avascular necrosis of the capital femoral epiphysis Generalized dystonia Sleep disturbance Focal dystonia Progressive flexion contractures Transient hyperphenylalaninemia Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Incoordination Skin rash Paraplegia Abnormality of extrapyramidal motor function Decreased CSF homovanillic acid Dysarthria Pleural effusion Hyperlordosis Fever Myopia Talipes equinovarus Babinski sign Cough Hypothyroidism Pes cavus Encephalopathy Cystathioninemia Axial dystonia Infantile encephalopathy Stomatitis Obsessive-compulsive trait Megaloblastic anemia Macrocytic anemia Fixed facial expression Delayed speech and language development Psychosis Dysphagia Writer's cramp Ventriculomegaly Cerebellar atrophy Cystathioninuria Hyperactivity Weight loss Aggressive behavior Mental deterioration Abnormality of the skin Methylmalonic aciduria Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Dysphonia Increased serum iron Abnormal pyramidal sign Hypertonia Confusion Cholangiocarcinoma Decreased methylcobalamin Decreased methionine synthase activity Megaloblastic bone marrow Constrictive pericarditis Spastic diplegia Abnormality of the cerebral white matter Difficulty walking Hyperhomocystinemia Glossitis Decreased adenosylcobalamin Gaze-evoked nystagmus Resting tremor Aceruloplasminemia Upper motor neuron dysfunction Methylmalonic acidemia Torsion dystonia Hyperactive deep tendon reflexes Akinesia Infertility Hemiplegia/hemiparesis Inflammatory abnormality of the eye Uveitis Irregular hyperpigmentation Hemoptysis Glomerulopathy Abnormal heart valve morphology Restrictive ventilatory defect Emphysema Nephritis Complement deficiency Urticaria Pericarditis Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Reduced tendon reflexes Restrictive cardiomyopathy Cranial nerve paralysis Joint dislocation Angioedema Immunologic hypersensitivity Recurrent bacterial infections Amenorrhea Arthropathy Abnormal joint morphology Impotence Azoospermia Hypogonadotrophic hypogonadism Insulin resistance Hyperpigmentation of the skin Telangiectasia Cardiomegaly Hepatic steatosis Episcleritis Hepatic failure Dilated cardiomyopathy Carcinoma Elevated hepatic transaminase Recurrent infections Cardiomyopathy Neoplasm Small vessel vasculitis Obstructive lung disease Conjunctivitis Vasculitis Falls Schizophrenia Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Osteomalacia Personality changes Slurred speech Hyperkinesis Clumsiness Upper limb undergrowth Broad-based gait Type II diabetes mellitus Generalized-onset seizure Neuronal loss in central nervous system Brain atrophy Chorea Gliosis Progressive cerebellar ataxia Neurodegeneration Restlessness Head tremor Lymphoma Alcoholism Sensory neuropathy Nausea and vomiting Pruritus Autoimmunity Myalgia Renal insufficiency Peripheral neuropathy Sensorineural hearing impairment Oral motor hypotonia Abnormal glucose tolerance Chronic bronchitis Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Microvesicular hepatic steatosis Neutropenia Dilated fourth ventricle Aciduria Peripheral demyelination Lethargy Swelling of proximal interphalangeal joints Retinal atrophy Optic disc pallor Nyctalopia Pallor Edema Ivory epiphyses of the distal phalanges of the hand Cone-shaped epiphyses of the proximal phalanges of the hand Macular edema Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Anisocytosis Poikilocytosis Pseudohypoparathyroidism Hepatosplenomegaly Abdominal distention Bruising susceptibility Delayed puberty Neurological speech impairment Corneal opacity EEG abnormality Kyphosis Retinal pigment epithelial atrophy Strabismus Photoreceptor layer loss on macular OCT Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Flat capital femoral epiphysis Leukonychia Generalized myoclonic seizures Protruding ear Smooth philtrum Carious teeth Hypotrichosis Pectus carinatum Stroke Sparse hair Low-set, posteriorly rotated ears Delayed eruption of teeth Pes planus Macrotia Posteriorly rotated ears Long philtrum Abnormality of the skeletal system Brachydactyly Micrognathia Bulbous nose Short metacarpal Thin eyebrow Cone-shaped epiphysis Concave nail Spastic ataxia Slow-growing hair Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Deep philtrum Dental malocclusion Short metatarsal Infantile muscular hypotonia Scapular winging Narrow palate Sparse scalp hair Fine hair Microdontia Abnormal bleeding Syncope Small for gestational age Erlenmeyer flask deformity of the femurs Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Orthopnea Headache Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Horizontal supranuclear gaze palsy Abnormality of the nervous system Periorbital edema High palate Microtia Developmental regression Feeding difficulties in infancy Acidosis Abnormal heart morphology Epicanthus Feeding difficulties Low-set ears Aortic regurgitation Muscular hypotonia Halitosis Hypermethioninemia Hypertyrosinemia CNS demyelination Gout Dysdiadochokinesis Esodeviation Generalized osteosclerosis Cyanosis Osteolysis Portal hypertension Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Leukopenia Oculomotor apraxia Spastic paraparesis Clubbing Increased bone mineral density Bone pain Decreased body weight Epistaxis Pulmonary arterial hypertension Apraxia Abnormality of the cardiovascular system Abnormality of the thorax Leukocytosis Abnormality of the spleen Protuberant abdomen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Bipolar affective disorder Gingival bleeding Aseptic necrosis Menorrhagia Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Petechiae Abnormality of coagulation Increased antibody level in blood Osteomyelitis Elevated transferrin saturation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dystonia, related diseases and genetic alterations Tremor and Abnormality of eye movement, related diseases and genetic alterations Cardiomyopathy and Encephalopathy, related diseases and genetic alterations Failure to thrive and Flat face, related diseases and genetic alterations Micrognathia and Overgrowth, related diseases and genetic alterations

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