Arthritis, and Generalized tonic-clonic seizures

Diseases related with Arthritis and Generalized tonic-clonic seizures

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


Top 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 COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

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

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Other less relevant matches:

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

Low match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14


Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14; EIG14

Low match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10


Idiopathic generalized epilepsy (EIG) is a broad term that encompasses several common seizure phenotypes, classically including childhood absence epilepsy (CAE, ECA), juvenile absence epilepsy (JAE), and juvenile myoclonic epilepsy (JME, EJM) (Commission on Classification and Terminology of the International League Against Epilepsy, 1989). Generalized epilepsy with febrile seizures plus (GEFS+) shows phenotypic overlap with IGE, and includes patients with early-onset febrile seizures who later develop various types of febrile and afebrile seizures, such as those observed in EIG (summary by Singh et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of EIG, see {600669}.For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}.For a general phenotypic description and a discussion of genetic heterogeneity of EJM, see {254770}.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10; EIG10

Low match EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13


Childhood absence epilepsy and juvenile myoclonic epilepsy are both subtypes of what has classically been called idiopathic generalized epilepsy (IGE, EIG; see {600669}).For a phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see {600669}.For a phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy and childhood absence epilepsy, see ECA1 (OMIM ) and JME (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Generalized tonic-clonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MESH MENDELIAN

More info about EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13; EIG13

Low match FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION


Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).

FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION Is also known as hereditary calcium pyrophosphate deposition|familial cc|familial cppd|familial articular chondrocalcinosis|calcium pyrophosphate dihydrate crystal deposition disease|hereditary articular chondrocalcinosis|hereditary cc|chondrocalcinosis with early-onset o

Related symptoms:

  • Seizures
  • Arthralgia
  • Arthritis
  • Limitation of joint mobility
  • Osteoarthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

Low match CHONDROCALCINOSIS 2; CCAL2


Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

CHONDROCALCINOSIS 2; CCAL2 Is also known as calcium pyrophosphate dihydrate deposition disease|cppdd|calcium gout|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


SOURCES: MESH OMIM MENDELIAN

More info about CHONDROCALCINOSIS 2; CCAL2

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

Top 5 symptoms//phenotypes associated to Arthritis and Generalized tonic-clonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Generalized tonic-clonic seizures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment Ataxia Absence seizures Febrile seizures Rheumatoid arthritis Osteoarthritis

Rare Symptoms - Less than 30% cases


Arthralgia Myoclonus Chondrocalcinosis Umbilical hernia Abnormality of eye movement Myopia Chorea Dementia Osteopenia Ventriculomegaly Abnormality of skin pigmentation Schizophrenia Cholelithiasis Bipolar affective disorder Juvenile rheumatoid arthritis Thrombocytopenia Intellectual disability Fever Strabismus Short neck Scoliosis Hypertelorism Short stature Hearing impairment Progressive neurologic deterioration Abnormal facial shape Behavioral abnormality Immunodeficiency Delayed speech and language development Delayed puberty Lymphadenopathy Muscle fibrillation Abnormal bleeding Hypokinesia Cirrhosis Bruising susceptibility Hematuria Ascites Abdominal distention Mania Parkinsonism Epistaxis Meningitis Increased bone mineral density Bone pain Hepatic fibrosis Anorexia Decreased body weight Pulmonary arterial hypertension Syncope Pancytopenia Apraxia Abnormality of the cardiovascular system Akinesia Cyanosis Corneal opacity Neurological speech impairment EEG abnormality Abnormality of the eye Paranoia Fatigue Chronic bronchitis Hepatomegaly Motor delay Dilated fourth ventricle Testicular atrophy Spasticity Upper limb undergrowth Failure to thrive Growth delay Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Head tremor Osteolysis Proteinuria Cerebellar vermis atrophy Abnormal involuntary eye movements Hepatosplenomegaly Dyspnea Abdominal pain Bronchitis Osteoporosis Recurrent respiratory infections Restlessness Delayed skeletal maturation Arrhythmia Kyphosis Splenomegaly Congestive heart failure Diarrhea Spastic paraparesis Pericardial effusion Oculomotor apraxia Limitation of joint mobility Back pain Pain Calcification of cartilage Abnormality of the intervertebral disk Joint swelling Joint dislocation Cutaneous photosensitivity Arthropathy Focal-onset seizure Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Hyperparathyroidism Ankylosis Erlenmeyer flask deformity of the femurs Macular edema Ring scotoma Decreased serum iron Epiretinal membrane Decreased mean corpuscular volume Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Anisocytosis Hypomagnesemia Retinal atrophy Optic disc pallor Nyctalopia Pallor Edema Polyarticular chondrocalcinosis Neck pain Vascular calcification Orthopnea Leukopenia Increased antibody level in blood Aseptic necrosis Exertional dyspnea Pathologic fracture Interstitial pulmonary abnormality Personality changes Petechiae Abnormality of coagulation Osteomyelitis Gingival bleeding Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Increased susceptibility to fractures Reduced bone mineral density Protuberant abdomen Hepatocellular carcinoma Abnormal platelet function Periorbital edema Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Generalized osteosclerosis Increased serum ferritin Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Obsessive-compulsive behavior Abnormality of movement Slurred speech Coarctation of aorta Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Short palpebral fissure Low posterior hairline Tetralogy of Fallot Spina bifida Amenorrhea Specific learning disability Renal agenesis Bifid uvula High, narrow palate Hemolytic anemia Iris coloboma Exotropia Hypocalcemia Bulbous nose Autoimmune thrombocytopenia Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Posterior embryotoxon Autoimmune hemolytic anemia Purpura Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Nasal speech Arnold-Chiari malformation Bicuspid aortic valve Polymicrogyria Astigmatism Tetany Ventricular septal defect Recurrent infections Microphthalmia Hypertonia Atrial septal defect Hydrocephalus Hypoplasia of the corpus callosum High palate Obesity Flexion contracture Low-set ears Ptosis Cleft palate Micrognathia Neoplasm Microcephaly Abnormality of cardiovascular system morphology Patent ductus arteriosus Microtia Abnormality of the kidney Short philtrum Attention deficit hyperactivity disorder Autoimmunity Blepharophimosis Craniosynostosis Abnormality of the pinna Cleft lip Abnormal heart morphology Telecanthus Hydronephrosis Retrognathia Hypothyroidism Narrow mouth Posteriorly rotated ears Inguinal hernia Myelomeningocele Seborrheic dermatitis Incoordination Diabetes mellitus Aggressive behavior Anxiety Rigidity Weight loss Gait ataxia Hyperactivity Dystonia Irritability Cerebellar atrophy Dysphagia Gait disturbance Tremor Dysarthria Hyperreflexia Hypertension Mental deterioration Cough Lacrimal duct stenosis Bradykinesia Hyperkinesis Involuntary movements Clumsiness Broad-based gait Type II diabetes mellitus Generalized-onset seizure Neuronal loss in central nervous system Abnormality of the cerebral white matter Brain atrophy Gliosis Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Falls Infertility Thin lower lip vermilion Underdeveloped supraorbital ridges Anterior segment developmental abnormality Impaired T cell function Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Right aortic arch Aplasia of the thymus Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Conotruncal defect Arteria lusoria Combined immunodeficiency Wide nasal bridge Ectopic kidney Cone-shaped epiphysis Short metatarsal Short metacarpal Pneumonia Abnormality of the skeletal system Optic atrophy Depressed nasal bridge Right aortic arch with mirror image branching Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Photoreceptor layer loss on macular OCT



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