Arthritis, and Stereotypy

Diseases related with Arthritis and Stereotypy

In the following list you will find some of the most common rare diseases related to Arthritis and Stereotypy 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 OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

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

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Other less relevant matches:

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 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 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

Low match WILSON DISEASE


Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Top 5 symptoms//phenotypes associated to Arthritis and Stereotypy

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Depressivity Uncommon - Between 30% and 50% cases
Anxiety Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Dystonia Seizures Obsessive-compulsive behavior Irritability Aggressive behavior Renal insufficiency Rheumatoid arthritis Behavioral abnormality Dysphagia Nystagmus Hypertension Scoliosis Spasticity Anemia Hyperreflexia Dysarthria Growth delay Weight loss Involuntary movements Sensorineural hearing impairment Peripheral neuropathy Focal dystonia Gout Fatigue Areflexia Hyporeflexia Ataxia Gait ataxia Nephrolithiasis Cognitive impairment Motor delay Vomiting Abnormality of extrapyramidal motor function Bradykinesia Dementia Clumsiness

Rare Symptoms - Less than 30% cases


Polyneuropathy Osteoarthritis Transient hyperphenylalaninemia Nephrocalcinosis Aminoaciduria Hypercalciuria Renal tubular dysfunction Osteomalacia Muscle weakness Coma Personality changes Schizophrenia Abnormality of the cerebral white matter Infertility Joint swelling Gliosis Neuronal loss in central nervous system Paresthesia Progressive neurologic deterioration Pathologic fracture Hyperphosphaturia Peripheral axonal neuropathy Abnormality of movement Cardiomyopathy Talipes equinovarus Progressive flexion contractures Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Brisk reflexes Postural tremor Torticollis Horizontal nystagmus Parkinsonism Sleep disturbance Hypothyroidism Pes cavus Babinski sign Abnormality of the substantia nigra Global developmental delay Paresis of extensor muscles of the big toe Gait disturbance Difficulty walking Hepatitis Peripheral demyelination Abnormality of eye movement Abnormality of the liver Malabsorption Abnormality of the nervous system Headache Fever Paraplegia Confusion Abnormal cerebellum morphology Joint hypermobility Decreased CSF homovanillic acid Thrombocytopenia Nephropathy Constipation Ventriculomegaly Visual impairment Proteinuria Testicular atrophy Oral-pharyngeal dysphagia Self-injurious behavior Cerebral palsy Chorea Failure to thrive Hematuria Hypertonia Pain Generalized hypotonia Delayed speech and language development Hip dislocation Short stature Brain atrophy Type II diabetes mellitus Glycosuria Global brain atrophy Writer's cramp Axial dystonia Infantile encephalopathy Obsessive-compulsive trait Fixed facial expression Cerebellar atrophy Abnormality of mitochondrial metabolism Myoclonus Back pain Kayser-Fleischer ring Generalized-onset seizure Abnormality of the hand Muscle stiffness Drooling Diabetes mellitus Oromandibular dystonia Leukoencephalopathy Mental deterioration Cough Leukopenia Spontaneous abortion Falls Neurodegeneration Increased body weight Progressive cerebellar ataxia Hyperactivity Arthropathy Parkinsonism with favorable response to dopaminergic medication Neoplasm of the liver Hypersexuality Poor motor coordination Hypocupremia Acute hepatitis Premature osteoarthritis Abnormality of the menstrual cycle High nonceruloplasmin-bound serum copper Retinoblastoma Encephalopathy Proximal muscle weakness in lower limbs Hyperlordosis Abnormal pyramidal sign Spastic paraplegia Menstrual irregularities Esophageal varix Torsion dystonia Broad-based gait Upper motor neuron dysfunction Hyperactive deep tendon reflexes Resting tremor Gaze-evoked nystagmus Spastic diplegia Dysphonia Abnormality of blood and blood-forming tissues Chondrocalcinosis Hepatocellular carcinoma Hypoparathyroidism Hand tremor Increased reactive oxygen species production Mixed demyelinating and axonal polyneuropathy Acute hepatic failure Arthralgia Hyperkinesis Bone pain Malnutrition Syringomyelia Amyloidosis Elevated hepatic transaminase Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Impotence Restrictive cardiomyopathy Cerebral hemorrhage Cachexia Pruritus Spastic paraparesis Paraparesis Nausea and vomiting Abnormal autonomic nervous system physiology Vasculitis Increased CSF protein Multiple myeloma Hemiparesis Cardiac amyloidosis Cerebral atrophy Splenomegaly Edema Hepatomegaly Jaundice Neoplasm Amyloid deposition in the vitreous humor Vitreous floaters Stroke-like episode Orthostatic hypotension due to autonomic dysfunction Hepatosplenomegaly Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Hallucinations Cardiomegaly Osteoporosis Cholestasis Abnormal involuntary eye movements Mania Paranoia Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Neuronal loss in basal ganglia Cerebellar vermis atrophy Decreased liver function Bronchitis Muscle fibrillation Hypokinesia Akinesia Slurred speech Incoordination Psychosis Ascites Bilateral sensorineural hearing impairment Bruising susceptibility Poor speech Hypotension Migraine Urinary incontinence Nausea Cirrhosis Hepatic failure Hemolytic anemia Suicidal ideation Facial palsy Arrhythmia Congestive heart failure Diarrhea Hydrocephalus Hepatic steatosis Oral motor hypotonia Frequent temper tantrums Atrioventricular block Retinal degeneration Halitosis Attention deficit hyperactivity disorder Joint hyperflexibility Genu valgum Delayed puberty Carious teeth Congenital cataract Platyspondyly Corneal opacity Camptodactyly of finger Everted lower lip vermilion Joint stiffness Protruding ear Feeding difficulties in infancy Low-set, posteriorly rotated ears Intellectual disability, moderate Neonatal hypotonia Deeply set eye EEG abnormality Long face Metabolic acidosis Umbilical hernia Open mouth Skin ulcer Clonus Abnormality of epiphysis morphology Amblyopia Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Sparse scalp hair Delayed eruption of teeth Fine hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Full cheeks Abnormal bleeding Recurrent fractures Thin upper lip vermilion Gastroesophageal reflux Narrow palate Proximal placement of thumb Facial grimacing Dyslexia Megaloblastic anemia Self-mutilation Hyperuricemia Opisthotonus Athetosis Finger clinodactyly Excessive purine production Spastic gait Recurrent urinary tract infections Choreoathetosis Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Flexion contracture Muscular hypotonia Hyperuricosuria Bladder stones Acidosis Kyphosis Mandibular prognathia Reduced visual acuity Glaucoma Upslanted palpebral fissure Recurrent respiratory infections Inguinal hernia Microphthalmia Long philtrum Abnormality of the dentition Podagra Blindness Respiratory insufficiency Frontal bossing Feeding difficulties Cryptorchidism Cataract Strabismus Micrognathia Joint contracture of the hand Abnormality of dental enamel Hypermethioninemia Hypoammonemia Mildly elevated creatine phosphokinase Hoarse voice Distal amyotrophy Abnormality of the foot Distal muscle weakness Myopathy Dense posterior cortical cataract Wrist swelling Vocal cord paresis Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Progressive peripheral neuropathy Abnormality of the kidney Elevated serum acid phosphatase Renal corticomedullary cysts Hypertyrosinemia Homocystinuria CNS demyelination Dysdiadochokinesis Aortic regurgitation Anorexia Abnormality of the eye Tubular basement membrane disintegration Chronic pancreatitis Dilated cardiomyopathy Pancreatic cysts Kinetic tremor Tubular atrophy Arachnoid cyst Nephronophthisis Pancreatitis Renal cyst Stage 5 chronic kidney disease Benign neoplasm of the central nervous system Abnormality of calcium-phosphate metabolism Azoospermia Hyponatremia Abnormal joint morphology Hyperparathyroidism Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Chronic otitis media Renal tubular acidosis Glomerulonephritis Rickets Abnormality of the voice Hypokalemia Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Glomerulopathy Multiple renal cysts Chorioretinal dysplasia Lacrimation abnormality Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Abnormality of the renal tubule Abnormal pupil morphology Patellar dislocation Buphthalmos Atelectasis Generalized hypopigmentation Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Atypical or prolonged hepatitis



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

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