Ataxia, and Rheumatoid arthritis

Diseases related with Ataxia and Rheumatoid arthritis

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


Top matches:

Medium 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

Medium 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

Medium 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

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Other less relevant matches:

Medium 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

Medium 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

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Medium match BEHÇET DISEASE


Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Ataxia and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality Anemia Fever Weight loss Anxiety Dementia Fatigue Scoliosis Obsessive-compulsive behavior Hypothyroidism Global developmental delay Thrombocytopenia Neutropenia Irritability Short stature Generalized hypotonia Dilatation Recurrent infections Failure to thrive Autoimmunity Retinopathy Muscular hypotonia High palate Bradykinesia Malabsorption Sensorineural hearing impairment Rigidity Diarrhea Gait ataxia Cataract Nystagmus Delayed speech and language development Hyperreflexia Juvenile rheumatoid arthritis Tremor Hypertension Gait disturbance

Rare Symptoms - Less than 30% cases


Schizophrenia Bronchitis Abnormal pyramidal sign Abnormality of movement Paraplegia Visual impairment Confusion Paranoia Abnormal cerebellum morphology Clumsiness Neuronal loss in central nervous system Hyperactivity Involuntary movements Chorea Gliosis Cognitive impairment Cough Dysarthria Mental deterioration Cerebellar atrophy Aggressive behavior Hydrocephalus Diabetes mellitus Microcephaly Hemiparesis Cardiomyopathy Encephalitis Hernia Obesity Retrognathia Recurrent aphthous stomatitis Abnormal facial shape Open mouth Inflammation of the large intestine Acne Venous thrombosis Stroke Reduced visual acuity Visual loss Blindness Epididymitis Recurrent skin infections Renal insufficiency Hypocalcemia Meningitis Otitis media Rod-cone dystrophy Alopecia Immunodeficiency Neoplasm Cerebral hemorrhage Vasculitis Hallucinations Peripheral demyelination Migraine Paresthesia Headache Myelopathy Pain Encephalopathy Abnormal heart morphology Focal dystonia Progressive flexion contractures Decreased CSF homovanillic acid Transient hyperphenylalaninemia Abnormality of the substantia nigra Paresis of extensor muscles of the big toe Thin upper lip vermilion Limb dystonia Feeding difficulties in infancy Developmental regression Skin rash Small for gestational age Aciduria Psychosis Generalized dystonia Impaired vibration sensation in the lower limbs Stomatitis Babinski sign Myopia Edema Nyctalopia Abnormality of skin pigmentation Macular edema Talipes equinovarus Pes cavus Lower limb hyperreflexia Sleep disturbance Parkinsonism Abnormality of extrapyramidal motor function Horizontal nystagmus Torticollis Postural tremor Brisk reflexes Incoordination Ventricular septal defect Motor delay Dystonia Spasticity Aplasia/Hypoplasia of the earlobes Chorioretinal dysplasia Seborrheic dermatitis Pulmonary artery atresia Abnormality of the endocrine system Hemeralopia Narrow palm Echolalia Narrow philtrum Myelomeningocele Truncus arteriosus Delusions Pierre-Robin sequence Cutis gyrata of scalp Meningocele High-pitched cry Hearing abnormality Hypoparathyroidism Vitiligo Thick corpus callosum Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Aplasia of the uterus Interrupted aortic arch Graves disease Aplasia of the thymus Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Microglossia Central nervous system degeneration Gingivitis Arteria lusoria Psychotic episodes Axonal loss Posterior subcapsular cataract Conotruncal defect Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Submucous cleft hard palate Basal ganglia calcification Autoimmune hemolytic anemia Conductive hearing impairment Hypoplastic philtrum Vesicoureteral reflux Bifid uvula Hemolytic anemia Bulbous nose Dysmetria Anal atresia Pulmonic stenosis Congenital cataract Blepharophimosis Abnormality of the pinna Umbilical hernia Renal agenesis Subcapsular cataract Posteriorly rotated ears Inguinal hernia Patent ductus arteriosus Hypospadias Hiatus hernia Cat cry Absent speech Abnormality of cardiovascular system morphology Thoracic scoliosis Intellectual disability, severe Underdeveloped nasal alae Specific learning disability Weak cry Abnormality of the hand Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Unilateral renal agenesis Apathy Psoriasiform dermatitis Dysdiadochokinesis Prominent eyelashes Cholelithiasis Nasal speech Macrodontia of permanent maxillary central incisor Arnold-Chiari malformation Amenorrhea Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Multicystic kidney dysplasia Spina bifida Renal dysplasia Childhood-onset truncal obesity Primary amenorrhea Low posterior hairline Tetralogy of Fallot Growth delay Hypertelorism Tapetoretinal degeneration Iris coloboma Microcornea Single transverse palmar crease Tapered finger Furrowed tongue Highly arched eyebrow Retinal detachment Small hand High, narrow palate Thick vermilion border Retinal dystrophy Granulocytopenia Atrial septal defect Short metacarpal Deep venous thrombosis Thick eyebrow Leukopenia Laryngomalacia Joint hypermobility Misalignment of teeth Retinal degeneration Congenital neutropenia Facial hypotonia Arachnodactyly Astigmatism Hypoplasia of the maxilla Prominent nose Joint hyperflexibility Long eyelashes Thick hair Intellectual disability, progressive Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Abnormality of the larynx Bone spicule pigmentation of the retina Exotropia Iris atrophy Tall stature Growth hormone deficiency Lumbar hyperlordosis High myopia Macrodontia Sandal gap Decreased fetal movement Mitral valve prolapse Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Bull's eye maculopathy Smooth philtrum Genu valgum Micrognathia Depressed nasal bridge Pectus excavatum Microphthalmia Malar flattening Kyphosis Intracranial hemorrhage Respiratory distress Abnormality of the skeletal system Peripheral visual field loss Macrocephaly Optic atrophy Intrauterine growth retardation Ptosis Cerebellar hypoplasia Failure to thrive in infancy Cubitus valgus Cryptorchidism Constriction of peripheral visual field Abnormality of dental morphology Disproportionate tall stature Strabismus Truncal obesity Abnormality of the hip bone Narrow nasal bridge Celiac disease Clinodactyly of the 5th finger Mandibular prognathia Hyperplasia of the maxilla Reduced number of teeth Laryngeal stenosis Delayed puberty Synophrys Severe global developmental delay Neurological speech impairment Finger syndactyly Chorioretinal dystrophy Prominent nasal bridge Vocal cord paralysis Short philtrum Wide mouth Short metatarsal Gastroesophageal reflux Precocious puberty Paralysis Protruding ear Respiratory tract infection Postnatal growth retardation Intellectual disability, moderate Radioulnar synostosis Joint laxity Neonatal hypotonia Pes planus Kyphoscoliosis Macrotia Downslanted palpebral fissures Myalgia Hypoplasia of the corpus callosum Akinesia Abnormal involuntary eye movements Mania Testicular atrophy Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Muscle fibrillation Hypokinesia Personality changes Suicidal ideation Slurred speech Hyperkinesis Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Generalized-onset seizure Brain atrophy Progressive cerebellar ataxia Neurodegeneration Falls Infertility Neuronal loss in basal ganglia Frequent temper tantrums Abnormality of the cerebral white matter Urinary incontinence Aphasia Malnutrition Impotence Cachexia Atrioventricular block Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Coma Oral motor hypotonia Polyneuropathy Nephropathy Peripheral axonal neuropathy Facial palsy Constipation Hyporeflexia Areflexia Arrhythmia Congestive heart failure Vomiting Peripheral neuropathy Muscle weakness Abnormality of eye movement Myoclonus Orthostatic hypotension Low-set ears Homocystinuria Methylmalonic aciduria Megaloblastic anemia Macrocytic anemia Pancytopenia Abnormality of the skin Lethargy Microtia Acidosis Epicanthus Feeding difficulties Photoreceptor layer loss on macular OCT Glossitis Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Anisocytosis Retinal atrophy Optic disc pallor Pallor Methylmalonic acidemia Hyperhomocystinemia Ventriculomegaly Resting tremor Dysphagia Fixed facial expression Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Hyperactive deep tendon reflexes Gaze-evoked nystagmus Decreased methylcobalamin Spastic diplegia Dysphonia Cerebral palsy Spastic paraplegia Hyperlordosis Difficulty walking Hypertonia Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Axonal degeneration Decreased number of peripheral myelinated nerve fibers Short neck Increased intracranial pressure Pustule Uveitis Aseptic necrosis Pulmonary embolism Hemoptysis Pericarditis Keratoconjunctivitis sicca Glomerulopathy Blurred vision Epiphora Pleural effusion Cranial nerve paralysis Gangrene Aortic regurgitation Pancreatitis Anorexia Subcutaneous nodule Mitral regurgitation Myocardial infarction Abnormal blistering of the skin Memory impairment Gastrointestinal hemorrhage Chest pain Vertigo Pulmonary infiltrates Raynaud phenomenon Nausea and vomiting Posterior uveitis Cleft palate Hypopyon Decreased level of D-mannose in urine Genital ulcers Panuveitis Superficial thrombophlebitis Orchitis Retrobulbar optic neuritis Iritis Increased inflammatory response Iridocyclitis Anterior uveitis Myositis Optic neuritis Chorioretinitis Immunologic hypersensitivity Erythema nodosum Thrombophlebitis Pleuritis Oral ulcer Endocarditis Alopecia areata Arterial thrombosis Abnormal myocardium morphology Cerebral ischemia Lymphadenopathy Papule Amyloidosis Amyloid deposition in the vitreous humor Skin ulcer Sinusitis Telangiectasia Chronic diarrhea Recurrent urinary tract infections Abnormal lung morphology Hepatitis Decreased antibody level in blood Sepsis Pneumonia Myopathy Cardiac amyloidosis Recurrent pneumonia Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Lymphopenia Recurrent bacterial infections Scarring Prostatitis Joint stiffness Erythema Photophobia Arthralgia Dyspnea Glaucoma Abdominal pain Splenomegaly Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Abnormality of the tonsils Conjunctivitis Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Agammaglobulinemia Glossoptosis Cellulitis Osteomyelitis Chronic otitis media Hypopigmented skin patches Slender toe



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