Edema, and Eosinophilia

Diseases related with Edema and Eosinophilia

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

Top matches:

Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006).Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (OMIM ). Genetic Heterogeneity of KeratoconusAlso see KTCN2 (OMIM ), mapped to 16q22.3-q23.1; KTCN3 (OMIM ), mapped to 3p14-q13; KTCN4 (OMIM ), mapped to 2p24; KTCN5 (OMIM ), mapped to 5q14.1-q21.3; KTCN6 (OMIM ), mapped to 9q34; KTCN7 (OMIM ), mapped to 13q32; KTCN8 (OMIM ), mapped to 14q24; and KTCN9 (OMIM ), caused by mutation in the TUBA3D gene (OMIM ) on 2q21.

Related symptoms:

  • Visual impairment
  • Myopia
  • Edema
  • Scarring
  • Astigmatism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KERATOCONUS 1; KTCN1

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Other less relevant matches:

Low match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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

Top 5 symptoms//phenotypes associated to Edema and Eosinophilia

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Failure to thrive Neoplasm Lymphoma Thrombocytopenia Hepatosplenomegaly Scarring Skin rash Papule Increased antibody level in blood Uveitis Seizures Pleural effusion Leukemia Hemolytic anemia Visual impairment Pneumonia Alopecia Leukocytosis

Rare Symptoms - Less than 30% cases

Microcephaly Generalized hypotonia Generalized lymphadenopathy Muscular hypotonia Purpura Cataract Recurrent infections Cellular immunodeficiency Hypoproteinemia Severe combined immunodeficiency Weight loss Combined immunodeficiency Pain Short stature Leukopenia Hepatic failure Tetraplegia Generalized edema Short toe Increased CSF protein Joint swelling Pancytopenia Diarrhea Meningitis Vasculitis Hypothyroidism Sepsis Intellectual disability Global developmental delay Dyspnea Autoimmunity Pulmonary edema Renal insufficiency Hypopigmentation of the skin Fatigue Cardiomegaly Syncope Hyperpigmentation of the skin Erythema Ventricular septal defect Postnatal growth retardation Headache Congestive heart failure Hyperpigmented streaks Skeletal muscle atrophy Blindness Respiratory distress Retinal vascular proliferation Atrophic, patchy alopecia Peripheral neuropathy Growth delay Nail pits Retinal hemorrhage Arrhythmia Cough Ridged nail Sudden cardiac death Thick nail Generalized osteosclerosis Chest pain Breast hypoplasia Breast aplasia Glaucoma Facial palsy Arthritis Supernumerary ribs Scarring alopecia of scalp Proximal muscle weakness Photophobia Hypohidrotic ectodermal dysplasia Abnormal facial shape Intrauterine growth retardation Biconvex vertebral bodies Clinodactyly Recurrent otitis media Eczema Intellectual disability, mild Underdeveloped nasal alae Short metacarpal Long philtrum Single transverse palmar crease Recurrent pneumonia Retinal dystrophy Downturned corners of mouth Clinodactyly of the 5th finger Agenesis of corpus callosum Hypogonadism Tachycardia Thin upper lip vermilion Sinusitis Finger clinodactyly Brachydactyly Short digit Downslanted palpebral fissures Irregular femoral epiphysis Anteverted nares Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Narrow nose Narrow palpebral fissure Vomiting Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Tachypnea Premature birth Diabetes insipidus Palpitations Abnormality of skin morphology Increased T cell count Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormal reproductive system morphology Maculopapular exanthema Vitritis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Chorioretinitis Abnormality of the adrenal glands Abnormality of the nasal mucosa Enlarged lacrimal glands Skin plaque Myeloid leukemia Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Burkitt lymphoma Chronic myelogenous leukemia Meningioma Acute lymphoblastic leukemia Neuroblastoma Sarcoma Vitreous snowballs Paraplegia Paralysis Panniculitis Neutrophilia Lipodystrophy Myalgia Arthralgia Abnormal trabecular meshwork morphology Pulmonary granulomatosis Abnormality of the lymph nodes Erythema nodosum Abnormal lung morphology Portal hypertension Elevated erythrocyte sedimentation rate Chorioretinal atrophy Blurred vision Pulmonary fibrosis Emphysema Anodontia Epiphora Inflammation of the large intestine Hypercalcemia Abnormality of the musculature Hypercalciuria Ventricular tachycardia Osteolysis Nephrocalcinosis Decreased liver function Anorexia Bronchiectasis Nephrolithiasis Subcutaneous nodule Interstitial pulmonary abnormality Hyperthyroidism Abnormality of the cerebrospinal fluid Bone cyst Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Skin nodule Immune dysregulation Hyperuricemia Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Heart block Optic neuropathy Hemoptysis Keratoconjunctivitis sicca Conical tooth Microphthalmia Hypoplasia of the fovea Autoimmune neutropenia Decreased lymphocyte apoptosis Platelet antibody positive Coombs-positive hemolytic anemia Rheumatoid factor positive Cervical lymphadenopathy Increased IgG level Reduced delayed hypersensitivity Increased IgM level Smooth muscle antibody positivity Follicular hyperplasia Antiphospholipid antibody positivity Increased IgA level Chronic noninfectious lymphadenopathy Lymphocytosis Extramedullary hematopoiesis Chronic lymphatic leukemia Multiple myeloma Antineutrophil antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Hepatocellular carcinoma Chronic diarrhea Aplasia/Hypoplasia of the eyebrow Erythroderma Scaling skin Disproportionate short-limb short stature Shock Recurrent bacterial infections Increased body weight Thickened skin Increased proportion of HLA DR+ T cells Abnormality of the metaphysis Inflammatory abnormality of the skin Nephrotic syndrome Dry skin Hypotrichosis Pruritus Severe short stature Intermediate uveitis Antinuclear antibody positivity Autoimmune thrombocytopenia Hashimoto thyroiditis Myopathy Myocardial fibrosis Heart murmur Atrioventricular block Ascites Inability to walk Abnormality of metabolism/homeostasis Dilatation Cardiomyopathy Abnormal myocardium morphology Ventriculomegaly Muscle weakness Irregular astigmatism Corneal scarring Allergy Keratoconus Corneal dystrophy Astigmatism Restrictive cardiomyopathy Myofibrillar myopathy Hodgkin lymphoma Carcinoma Iron deficiency anemia Autoimmune hemolytic anemia Basal cell carcinoma Petechiae Glomerulonephritis Urticaria Hepatitis Abnormal mitochondrial number Endocardial fibroelastosis Abnormality of the pulmonary veins Abnormal cardiac atrium morphology Abnormal ventricular filling Histiocytoid cardiomyopathy Abnormality of cardiovascular system physiology Abnormal left ventricle morphology Abnormality of the mitochondrion Skeletal myopathy Thyroiditis Recurrent viral infections Abnormality of the vasculature Spasticity Pallor Kyphoscoliosis Hyperkeratosis Visual loss Myopia Abnormality of the dentition Optic atrophy Strabismus Nail dystrophy Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Sparse hair Malabsorption Increased total bilirubin Increased bone mineral density Pustule Hypoplastic nipples Supernumerary nipple Hyperostosis Keratitis Coarse hair Hemivertebrae Lymphedema Abnormality of skin pigmentation Fine hair Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Nevus Hypodontia Delayed eruption of teeth Retinal detachment Granulocytopenia Partial albinism Hypoplasia of the thymus Encephalopathy Coma Confusion Abnormality of the liver Irritability Abnormality of the nervous system Elevated hepatic transaminase Jaundice Hypertonia Peripheral demyelination Ataxia Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Protracted diarrhea Recurrent fungal infections B lymphocytopenia Metaphyseal chondrodysplasia Gliosis Hypertriglyceridemia Increased LDL cholesterol concentration Pulmonary infiltrates Hemophagocytosis Histiocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Acute leukemia Increased serum ferritin Episodic fever Aspiration Abnormality of the coagulation cascade Albinism Hyponatremia Hemiplegia Hypoalbuminemia Encephalitis Increased intracranial pressure Hyperbilirubinemia Neoplasm of the peripheral nervous system


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