Arthritis, and Febrile seizures

Diseases related with Arthritis and Febrile seizures

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


Top matches:

Low match EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6


Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (OMIM ) and (OMIM ), respectively.

Related symptoms:

  • Seizures
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6; ECA6

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

Mendelian

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

Learn more

Other less relevant matches:

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 ABETA AMYLOIDOSIS, ARCTIC TYPE


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA (see this term) characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages.

ABETA AMYLOIDOSIS, ARCTIC TYPE Is also known as hereditary cerebral hemorrhage with amyloidosis, arctic type|abetae22g amyloidosis|hchwa, arctic type

Related symptoms:

  • Behavioral abnormality
  • Febrile seizures


SOURCES: ORPHANET MENDELIAN

More info about ABETA AMYLOIDOSIS, ARCTIC TYPE

Low match EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10


Juvenile myoclonic epilepsy-10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. The age of onset also shows great variability: some patients present in the first years of life, whereas other have onset of seizures in teenage years. EEG typically shows 3.5 to 5 Hz polyspike wave discharges. There is evidence of incomplete penetrance (summary by Bailey et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of juvenile myoclonic epilepsy, see {254770}.

Related symptoms:

  • Seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Cutaneous photosensitivity
  • Absence seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10; EJM10

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 Febrile seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Absence seizures Uncommon - Between 30% and 50% cases
Generalized tonic-clonic seizures Uncommon - Between 30% and 50% cases
Generalized myoclonic seizures Uncommon - Between 30% and 50% cases
Osteoarthritis Rare - less than 30% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Chondrocalcinosis Arthralgia Cutaneous photosensitivity Depressivity Pallor Ring scotoma Nyctalopia Abnormality of skin pigmentation Optic disc pallor Rheumatoid arthritis Retinal atrophy Macular edema Anisocytosis Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Fever Elliptocytosis Decreased mean corpuscular volume Decreased serum iron Epiretinal membrane Edema Polyarticular chondrocalcinosis Myopia Pain Focal-onset seizure Behavioral abnormality Limitation of joint mobility Joint dislocation Joint swelling Abnormality of the intervertebral disk Calcification of cartilage Intellectual disability Back pain Anemia Hyperparathyroidism Arthropathy Ankylosis Hypomagnesemia Neck pain Global developmental delay Hearing impairment Ataxia Photoreceptor layer loss on macular OCT



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

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more