Arthritis, and Irritability
Diseases related with Arthritis and Irritability
In the following list you will find some of the most common rare diseases related to Arthritis and Irritability that can help you solving undiagnosed cases.
Top matches:
Medium match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
Related symptoms:
- Scoliosis
- Neoplasm
- Fever
- Inguinal hernia
- Arthralgia
More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2
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; DRDMedium 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
More info about LESCH-NYHAN SYNDROME; LNS
Too many results?
We can help you with your rare disease diagnosis.
Other less relevant matches:
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 DISEASEMedium match FARBER DISEASE
Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
FARBER DISEASE Is also known as acid ceramidase deficiency|ac deficiency|farber lipogranulomatosis|ceramidase deficiency|farber disease|n-laurylsphingosine deacylase deficiency
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Nystagmus
- Failure to thrive
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about FARBER DISEASEMedium match KAWASAKI DISEASE
Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.
KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome
Related symptoms:
- Sensorineural hearing impairment
- Ptosis
- Fever
- Fatigue
- Edema
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about KAWASAKI DISEASEMedium 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 DISEASEMedium 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 LOWELow match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Ataxia
More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D
Low match ATYPICAL TERATOID RHABDOID TUMOR
Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.
ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt
Related symptoms:
- Seizures
- Ataxia
- Muscle weakness
- Macrocephaly
- Hydrocephalus
More info about ATYPICAL TERATOID RHABDOID TUMOR
Top 5 symptoms//phenotypes associated to Arthritis and Irritability
| Symptoms // Phenotype | % cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Behavioral abnormality | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
Accelerate your rare disease diagnosis with us
Other less frequent symptoms
Patients with Arthritis and Irritability. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Rheumatoid arthritis Ataxia Dystonia Hyperreflexia Motor delay Scoliosis Arthralgia Migraine Fatigue Cerebral palsy Chorea Nausea and vomiting Anxiety Rigidity Obsessive-compulsive behavior Hematuria Aggressive behavior Depressivity Cranial nerve paralysis Renal insufficiency Gait disturbance Subcutaneous nodule Joint stiffness Spasticity Fever Nystagmus Short stature
Rare Symptoms - Less than 30% cases
Stereotypy Nephrolithiasis Clumsiness Hyponatremia Generalized hypotonia Respiratory insufficiency Failure to thrive Splenomegaly Dysarthria Nephropathy Hip dislocation Flexion contracture Delayed speech and language development Neoplasm Dysphagia Self-injurious behavior Decreased liver function Vasculitis Jaundice Joint swelling Clonus Diarrhea Cough Headache Corneal opacity Weight loss Dilatation Abdominal pain Proteinuria Recurrent respiratory infections Meningitis Cerebellar atrophy Ventriculomegaly Cognitive impairment Kyphosis Abnormal myocardium morphology Erythema Lymphadenopathy Testicular atrophy Cerebellar vermis atrophy Myocardial infarction Mitral regurgitation Pericarditis Pain Edema Glomerulopathy Abnormality of extrapyramidal motor function Bradykinesia Abnormal cerebellum morphology Sleep disturbance Confusion Abnormality of movement Abnormal pyramidal sign Tremor Cataract Periodontitis Blindness Gait ataxia Glaucoma Reduced visual acuity Hypertonia Involuntary movements Hypertension Inguinal hernia Umbilical hernia Joint hypermobility Osteoarthritis Focal dystonia Malabsorption Cheilitis Deeply set eye Low-set, posteriorly rotated ears Anorexia Visual impairment Feeding difficulties Protruding ear Feeding difficulties in infancy Cryptorchidism Pleural effusion Hemiparesis Acne Frontal bossing Intellectual disability, moderate EEG abnormality Hyporeflexia Thin upper lip vermilion Gastroesophageal reflux Acidosis Mandibular prognathia Upslanted palpebral fissure Increased intracranial pressure Constipation Neonatal hypotonia Abnormality of the dentition Thrombocytopenia Venous thrombosis Aortic regurgitation Encephalitis Microphthalmia Pancreatitis Long philtrum Areflexia Immunologic hypersensitivity Strabismus Endocarditis Retrobulbar optic neuritis Cerebral ischemia Iritis Arterial thrombosis Recurrent aphthous stomatitis Stomatitis Alopecia areata Oral ulcer Myositis Increased inflammatory response Pleuritis Thrombophlebitis Erythema nodosum Iridocyclitis Posterior uveitis Anterior uveitis Optic neuritis Orchitis Raynaud phenomenon Inflammation of the large intestine Epididymitis Epiphora Blurred vision Chorioretinitis Growth delay Hypopyon Keratoconjunctivitis sicca Decreased level of D-mannose in urine Hemoptysis Gangrene Genital ulcers Panuveitis Superficial thrombophlebitis Pulmonary embolism Aseptic necrosis Uveitis Pustule Pulmonary infiltrates Micrognathia Narrow palate Camptodactyly of finger Renal Fanconi syndrome Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Keloids Elevated maternal serum alpha-fetoprotein Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Hyperaldosteronism Gingivitis Odontogenic neoplasm Bicarbonaturia Patellar dislocation Progressive microcephaly Reduced consciousness/confusion Hemiplegia/hemiparesis Apathy Cerebral calcification Limitation of joint mobility Hydrocephalus Macrocephaly Muscle weakness Limb joint contracture Abnormality of the periventricular white matter Progressive spasticity Postnatal microcephaly Abnormality of dentin Intellectual disability, profound Spastic tetraplegia Delayed myelination Dyskinesia Cerebral atrophy Hypoplasia of the corpus callosum Microcephaly Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Atypical scarring of skin Multiple renal cysts Attention deficit hyperactivity disorder Full cheeks Amblyopia Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Open mouth Sparse scalp hair Fine hair Abnormality of the ribs Dehydration Aciduria Increased serum lactate Abnormal bleeding Skin ulcer Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Long face Joint hyperflexibility Genu valgum Delayed puberty Carious teeth Congenital cataract Platyspondyly Abnormality of epiphysis morphology Joint contracture of the hand Renal tubular acidosis Glomerulonephritis Osteomalacia Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Chronic otitis media Rickets Nephrocalcinosis Abnormality of the voice Hypokalemia Hypercalciuria Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Azoospermia Abnormality of dental enamel Aminoaciduria Memory impairment Abnormal blistering of the skin Elevated erythrocyte sedimentation rate Gastrointestinal hemorrhage Athetosis Hyperuricosuria Facial grimacing Dyslexia Megaloblastic anemia Gout Self-mutilation Hyperuricemia Opisthotonus Proximal placement of thumb Bladder stones Oral-pharyngeal dysphagia Finger clinodactyly Spastic gait Recurrent urinary tract infections Choreoathetosis Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Vomiting Excessive purine production Podagra Paresis of extensor muscles of the big toe Gliosis Incoordination Hyperkinesis Schizophrenia Broad-based gait Progressive neurologic deterioration Type II diabetes mellitus Generalized-onset seizure Neuronal loss in central nervous system Brain atrophy Progressive cerebellar ataxia Dementia Neurodegeneration Falls Infertility Abnormality of eye movement Abnormality of the cerebral white matter Mental deterioration Hyperactivity Diabetes mellitus Myoclonus Muscular hypotonia Decreased CSF homovanillic acid Personality changes Talipes equinovarus Parkinsonism Paraplegia Spastic paraplegia Hyperlordosis Difficulty walking Hypothyroidism Pes cavus Babinski sign Encephalopathy Hearing impairment Torticollis Gingival recession Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Hyperextensible skin Lymphoma Bruising susceptibility Horizontal nystagmus Dysphonia Abnormality of the substantia nigra Torsion dystonia Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Obsessive-compulsive trait Infantile encephalopathy Axial dystonia Writer's cramp Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Postural tremor Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Brisk reflexes Spastic diplegia Slurred speech Akinesia Chest pain Inflammatory abnormality of the eye Conjunctival hyperemia Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Cholecystitis Ascending tubular aorta aneurysm Synovitis Elevated C-reactive protein level Recurrent pharyngitis Cervical lymphadenopathy Allergy Myocarditis Tubulointerstitial nephritis Aortic root aneurysm Acute kidney injury Abnormal heart valve morphology Interstitial pulmonary abnormality Coronary artery atherosclerosis Leukocytosis CSF pleocytosis Coronary artery aneurysm Hypoalbuminemia Photophobia Vertigo Paresthesia Papule Stroke Autoimmunity Retinopathy Scarring Developmental regression Myalgia Dyspnea Abnormality of nail color Alopecia Visual loss Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Scaling skin Ischemic stroke Hypokinesia Neuronal loss in basal ganglia Ascites Abnormality of the eye Hepatosplenomegaly Osteoporosis Respiratory distress Hepatomegaly Oral motor hypotonia Frequent temper tantrums Suicidal ideation Abnormal involuntary eye movements Hoarse voice Mania Paranoia Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Bronchitis Muscle fibrillation Hydrops fetalis Spontaneous abortion Conjunctivitis Periarticular subcutaneous nodules Cholestasis Hepatitis Skin rash Respiratory tract infection Arrhythmia Congestive heart failure Ptosis Sensorineural hearing impairment Lipogranulomatosis Cherry red spot of the macula Abnormality of vision Hoarse cry Psychomotor deterioration Histiocytosis Juvenile rheumatoid arthritis Nonimmune hydrops fetalis Weak cry Pulmonary fibrosis Decreased muscle mass Laryngomalacia Malignant neoplasm of the central nervous system
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Constipation, related diseases and genetic alterations Myopia and Glaucoma, related diseases and genetic alterations Motor delay and Epileptic encephalopathy, related diseases and genetic alterations Hepatomegaly and Pancytopenia, related diseases and genetic alterations Fever and Sepsis, related diseases and genetic alterations Cardiomyopathy and Brachydactyly, related diseases and genetic alterations Motor delay and Dental crowding, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
