Edema, and Fever

Diseases related with Edema and Fever

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

Top matches:

Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.

Related symptoms:

  • Seizures
  • Fever
  • Edema
  • Encephalopathy
  • Coma


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.

Related symptoms:

  • Fever
  • Asthma
  • Urticaria
  • Allergic rhinitis
  • Angioedema


SOURCES: MESH OMIM MENDELIAN

More info about CARBOXYPEPTIDASE N DEFICIENCY

Other less relevant matches:

Low match OSTEOSARCOMA

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.

OSTEOSARCOMA Is also known as osteogenic sarcoma

Related symptoms:

  • Pain
  • Fever
  • Weight loss
  • Abnormality of the metaphysis
  • Osteolysis


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSARCOMA

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by Nakanishi et al., 2017).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Fever
  • Edema
  • Headache


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

Low match EWING SARCOMA

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Top 5 symptoms//phenotypes associated to Edema and Fever

Symptoms // Phenotype % cases
Urticaria Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Seizures Rare - less than 30% cases

Other less frequent symptoms

Patients with Edema and Fever. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases

Lymphadenopathy Syncope Joint swelling Leukocytosis Angioedema Allergic rhinitis Weight loss Asthma Recurrent infections Cerebral edema Vitiligo Congestive heart failure Acute lymphoblastic leukemia Myopathy Meningioma Cardiomyopathy Cold urticaria Chills Immune dysregulation Chronic myelogenous leukemia Hashimoto thyroiditis Peripheral neuroepithelioma Pruritus Autoimmunity Erythema Neoplasm of the peripheral nervous system Burkitt lymphoma Arrhythmia Primitive neuroectodermal tumor Ewing sarcoma Dilatation Cardiac arrest Dyspnea Left bundle branch block Abnormality of the left ventricular outflow tract Abnormal right ventricle morphology T-wave inversion in the right precordial leads Dilatation of the ventricular cavity Peripheral edema ST segment elevation Right ventricular cardiomyopathy T-wave inversion Myofibrillar myopathy Abnormal myocardium morphology Myocarditis Multiple lipomas Dilated cardiomyopathy Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Ventricular fibrillation Atrioventricular block Ventricular arrhythmia Ventricular tachycardia Myeloid leukemia Palpitations Sudden cardiac death Tachycardia Neuroblastoma Neoplasm Pleural effusion Pathologic fracture Confusion Lethargy Mental deterioration EEG abnormality Obesity Cognitive impairment Abnormality of the tibial metaphysis Abnormality of the femoral metaphysis Increased lactate dehydrogenase activity Abnormal lactate dehydrogenase activity Elevated alkaline phosphatase Meningitis Osteolysis Abnormality of the metaphysis Anhidrotic ectodermal dysplasia Osteopetrosis Lymphedema Ectodermal dysplasia Acute encephalopathy Febrile seizures Coma Encephalopathy Hemiparesis Encephalitis Sarcoma Scarring Lymphoma Paraplegia Leukemia Paralysis Anemia Panniculitis Neutrophilia Lipodystrophy Vasculitis Skin rash Myalgia Herpes simplex encephalitis Diarrhea Failure to thrive Cervical lymphadenopathy Progressive hearing impairment Conjunctivitis Migraine Arthritis Headache Sensorineural hearing impairment Hearing impairment Sinoatrial block


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Dehydration, related diseases and genetic alterations Intrauterine growth retardation and Amenorrhea, related diseases and genetic alterations Hydrocephalus and High forehead, related diseases and genetic alterations