Arthritis, and Chorea

Diseases related with Arthritis and Chorea

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


Top matches:

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

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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match BENIGN HEREDITARY CHOREA


BENIGN HEREDITARY CHOREA Is also known as benign familial chorea|bhc

Related symptoms:

  • Gait disturbance
  • Abnormality of movement
  • Chorea


SOURCES: OMIM ORPHANET MENDELIAN

More info about BENIGN HEREDITARY CHOREA

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME


Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Low match NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1


Nephronophthisis is an autosomal recessive cystic kidney disease characterized by onset of end-stage renal failure in the first 3 decades of life. The disorder is often associated with extrarenal manifestations, including liver fibrosis, retinal degeneration, and central nervous system abnormalities (summary by O'Toole et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1; NPHPL1

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 VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0


Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Top 5 symptoms//phenotypes associated to Arthritis and Chorea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Chorea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Behavioral abnormality Cognitive impairment Delayed speech and language development Rheumatoid arthritis Tremor Seizures Gout Rigidity Hypothyroidism Thrombocytopenia Depressivity Short stature Aggressive behavior Anxiety Hypertension Fever Renal insufficiency Muscular hypotonia Obsessive-compulsive behavior Hyperreflexia Dysphagia Schizophrenia

Rare Symptoms - Less than 30% cases


Specific learning disability Hemolytic anemia Bifid uvula Renal agenesis Hypoplasia of the corpus callosum Sensorineural hearing impairment Cleft palate Autoimmunity Amenorrhea Peripheral demyelination Tetralogy of Fallot Bulbous nose Abnormality of the pinna High palate Blepharophimosis Short neck Umbilical hernia Retrognathia Posteriorly rotated ears Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Obesity Ventricular septal defect Recurrent infections Immunodeficiency Atrial septal defect Hydrocephalus Abnormality of cardiovascular system morphology Purpura Low posterior hairline Perimembranous ventricular septal defect Myelomeningocele Abnormality of the kidney Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Graves disease Interrupted aortic arch Right aortic arch Meningocele Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Arteria lusoria Right aortic arch with mirror image branching Sacral meningocele Truncus arteriosus Hypoparathyroidism Primary amenorrhea Cholelithiasis Renal dysplasia Spina bifida Hypocalcemia Paranoia Bicuspid aortic valve Arnold-Chiari malformation Nasal speech Dysdiadochokinesis Vitiligo Psoriasiform dermatitis Unilateral renal agenesis Acne Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Microcephaly Abnormal facial shape Focal dystonia Pancreatitis Abnormality of eye movement Abnormality of movement Testicular atrophy Clumsiness Choreoathetosis Gait ataxia Growth delay Abnormality of extrapyramidal motor function Bradykinesia Hyperactivity Irritability Dementia Cerebellar atrophy Mental deterioration Hypertonia Ataxia Flexion contracture Generalized hypotonia Gait disturbance Dysarthria Lower limb hyperreflexia Horizontal nystagmus Sleep disturbance Astigmatism Exotropia Generalized dystonia Polymicrogyria Parkinsonism Iris coloboma Limb dystonia Torticollis Progressive flexion contractures Postural tremor Broad thumb Amblyopia Brisk reflexes High, narrow palate Coarctation of aorta Short palpebral fissure Impaired vibration sensation in the lower limbs Cardiomyopathy Decreased CSF homovanillic acid Neutropenia Hemiplegia/hemiparesis Hyperammonemia Micrognathia Strabismus Ptosis Low-set ears Microphthalmia Sepsis Narrow mouth Hydronephrosis Coma Telecanthus Transient hyperphenylalaninemia Cleft lip Nausea and vomiting Lethargy Respiratory distress Optic atrophy Hepatomegaly Craniosynostosis Attention deficit hyperactivity disorder Short philtrum Paresis of extensor muscles of the big toe Generalized tonic-clonic seizures Abnormality of the substantia nigra Microtia Anterior segment developmental abnormality Pes cavus Stage 5 chronic kidney disease Tubular basement membrane disintegration Type I truncus arteriosus Renal corticomedullary cysts Chronic pancreatitis Pancreatic cysts Kinetic tremor Tubular atrophy Arachnoid cyst Nephronophthisis Renal cyst Retinal degeneration Hypertelorism Nystagmus Muscle weakness Peripheral neuropathy Myopathy Areflexia Hyporeflexia Distal muscle weakness Dilated cardiomyopathy Abnormality of the foot Distal amyotrophy Hoarse voice Mildly elevated creatine phosphokinase Progressive peripheral neuropathy Parathyroid agenesis Parathyroid hypoplasia Sclerocornea Homocystinuria Tetany Babinski sign Talipes equinovarus Vocal cord paresis Fatigue Hypoplasia of the thymus Halitosis Femoral hernia Hypermethioninemia Hypertyrosinemia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Headache Abnormality of the thymus Vascular tortuosity Esophoria CNS demyelination Aortic regurgitation Accommodative esotropia Anorexia Hepatitis Abnormality of the liver Abnormality of the eye Abnormality of the nervous system Decreased circulating parathyroid hormone level Neoplasm Holoprosencephaly Unilateral primary pulmonary dysgenesis Progressive cerebellar ataxia Podagra Ventriculomegaly Myoclonus Diabetes mellitus Weight loss Cough Abnormality of the cerebral white matter Infertility Falls Neurodegeneration Abnormal cerebellum morphology Gliosis Excessive purine production Brain atrophy Neuronal loss in central nervous system Generalized-onset seizure Type II diabetes mellitus Progressive neurologic deterioration Broad-based gait Involuntary movements Hyperkinesis Incoordination Slurred speech Personality changes Bladder stones Hyperuricosuria Hypokinesia Nephrolithiasis Pain Spasticity Motor delay Vomiting Intellectual disability, mild Clinodactyly Clinodactyly of the 5th finger Hip dislocation Hematuria Nephropathy Recurrent urinary tract infections Stereotypy Facial grimacing Spastic gait Finger clinodactyly Cerebral palsy Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Athetosis Opisthotonus Hyperuricemia Self-mutilation Megaloblastic anemia Dyslexia Akinesia Muscle fibrillation Unilateral lung agenesis Pierre-Robin sequence Abnormality of the hand Apathy Hypoplasia of the brainstem Myopathic facies Abnormality of the ear Basal ganglia calcification Axonal loss Submucous cleft hard palate Anal stenosis Hearing abnormality Delusions Echolalia Multicystic kidney dysplasia Abnormality of the endocrine system Pulmonary artery atresia Platybasia Mood swings Giant platelets Velopharyngeal insufficiency Psychotic episodes Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Narrow palpebral fissure Hallucinations Bronchitis Oral motor hypotonia Cerebellar vermis atrophy Restlessness Upper limb undergrowth Head tremor Chronic bronchitis Dilated fourth ventricle Mania Abnormal involuntary eye movements Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Cataract Open mouth Intellectual disability, severe Absent speech Hernia Hypospadias Conductive hearing impairment Congenital cataract Pulmonic stenosis Anal atresia Dysmetria Vesicoureteral reflux Underdeveloped nasal alae Psychosis Renal tubular dysfunction



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Coloboma, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more