Hepatomegaly, and Eosinophilia

Diseases related with Hepatomegaly and Eosinophilia

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


Top matches:

High match CHRONIC EOSINOPHILIC LEUKEMIA


Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Myalgia
  • Abnormality of the nervous system
  • Pruritus


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EOSINOPHILIC LEUKEMIA

High match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A


AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A Is also known as alps2|autoimmune lymphoproliferative syndrome, type ii

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Thrombocytopenia


SOURCES: OMIM MESH MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA; ALPS2A

High match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


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

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Other less relevant matches:

High 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

High match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


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

High match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

High match ROIFMAN SYNDROME


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

High 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

Medium match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Medium match LEUKOCYTE ADHESION DEFICIENCY TYPE III


Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

Related symptoms:

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

Top 5 symptoms//phenotypes associated to Hepatomegaly and Eosinophilia

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Edema Increased antibody level in blood Hemolytic anemia Skin rash Sepsis Fever Pneumonia Autoimmunity Leukemia Lymphoma Purpura Failure to thrive Diarrhea Papule Neoplasm Combined immunodeficiency Severe combined immunodeficiency Cellular immunodeficiency Fatigue Global developmental delay Recurrent infections Leukopenia Pruritus Recurrent bacterial infections Urticaria Petechiae Autoimmune hemolytic anemia Pain Autoimmune thrombocytopenia

Rare Symptoms - Less than 30% cases


Chronic noninfectious lymphadenopathy Shock Increased CSF protein Sudden cardiac death Vasculitis Leukocytosis Acute leukemia Chronic diarrhea Mastocytosis Short toe Erythema Inflammatory abnormality of the skin Hypertension Pancytopenia Tachycardia Increased IgA level Nephrotic syndrome Alopecia Seizures Portal hypertension Hepatic failure Meningitis Osteolysis Myeloproliferative disorder Muscular hypotonia Generalized hypotonia Severe B lymphocytopenia Hypoproteinemia Generalized lymphadenopathy Subcutaneous nodule Recurrent fungal infections B lymphocytopenia Pulmonary infiltrates Gastrointestinal hemorrhage Allergy Recurrent viral infections Hypothyroidism Myalgia Pleural effusion Smooth muscle antibody positivity Hepatitis Iron deficiency anemia Increased IgM level Renal insufficiency Autoimmune neutropenia Antinuclear antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Reduced delayed hypersensitivity Increased proportion of HLA DR+ T cells Decreased lymphocyte apoptosis Antineutrophil antibody positivity Increased IgG level Platelet antibody positive Rheumatoid factor positive Elevated erythrocyte sedimentation rate Asthma Recurrent otitis media Generalized edema Abnormality of the nervous system Recurrent pneumonia Abnormality of the lymph nodes Weight loss Extramedullary hematopoiesis Antiphospholipid antibody positivity Arrhythmia Follicular hyperplasia Headache Uveitis Sinusitis Coombs-positive hemolytic anemia Blurred vision Pulmonary fibrosis Emphysema Chorioretinal atrophy Skin nodule Diabetes insipidus Interstitial pulmonary abnormality Abnormality of the gastrointestinal tract Abnormality of the musculature Hyperthyroidism Hyperuricemia Keratoconjunctivitis sicca Tubulointerstitial nephritis Bone cyst Immune dysregulation Hemoptysis Optic neuropathy Joint swelling Macular edema Heart block Upper airway obstruction Hypothermia Palpitations Epiphora Scarring Peripheral neuropathy Visual impairment Skeletal muscle atrophy Respiratory distress Blindness Congestive heart failure Glaucoma Dyspnea Photophobia Irregular femoral epiphysis Cataract Proximal muscle weakness Arthritis Facial palsy Cough Inflammation of the large intestine Hypopigmentation of the skin Chest pain Syncope Abnormal lung morphology Nephrolithiasis Bronchiectasis Biconvex vertebral bodies Anorexia Hyperpigmentation of the skin Decreased liver function Nephrocalcinosis Ventricular tachycardia Hypercalciuria Hypercalcemia Night sweats Gastroesophageal reflux Anterior synechiae of the anterior chamber Bone marrow hypocellularity Generalized osteosclerosis Flushing Abnormality of blood and blood-forming tissues Hypermelanotic macule Loss of consciousness Sarcoma Bone pain Gastrointestinal stroma tumor Telangiectasia Abnormal blistering of the skin Hypotension Ascites Recurrent fractures Cirrhosis Nausea Hypersplenism Immunologic hypersensitivity Nausea and vomiting Telangiectasia macularis eruptiva perstans Abnormal thrombocyte morphology Osteopetrosis Cellulitis Recurrent skin infections Epistaxis Abnormal bleeding Chronic leukemia Asthenia Anaphylactic shock Cutaneous mastocytosis Dermatographic urticaria Abnormality of the gastric mucosa Food intolerance Abnormal eosinophil morphology Impaired temperature sensation Ichthyosis Malabsorption Pneumothorax Chorioretinitis Vitreous floaters Abnormal conjunctiva morphology Iridocyclitis Abnormal salivary gland morphology Anterior uveitis Dacryocystitis Abnormality of the adrenal glands Abnormal reproductive system morphology Skin plaque Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Chylothorax Vitreous hemorrhage Abnormality of the pleura Vitritis Abnormality of skin morphology Arthralgia Maculopapular exanthema Prominent eyelashes Abdominal pain Osteoporosis Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Abnormality of the nasal mucosa Posterior vitreous detachment 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 Noncompaction cardiomyopathy Absence of lymph node germinal center Humoral immunodeficiency Gliosis Encephalitis Increased intracranial pressure Hyperbilirubinemia Aspiration Hypertriglyceridemia Peripheral demyelination Tetraplegia Hemiplegia Coma Confusion Abnormality of the liver Irritability Elevated hepatic transaminase Jaundice Hypoalbuminemia Hyponatremia Hypertonia Hemophagocytosis Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Partial albinism Increased LDL cholesterol concentration Histiocytosis Albinism Prolonged prothrombin time Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Increased serum ferritin Episodic fever Abnormality of the coagulation cascade Encephalopathy Ataxia CSF pleocytosis Carcinoma Chronic lymphatic leukemia Multiple myeloma Hepatocellular carcinoma Hodgkin lymphoma Basal cell carcinoma Glomerulonephritis Increased B cell count Cervical lymphadenopathy Malar rash Reticulocytosis Nephritis Endocardial fibrosis Restrictive cardiomyopathy Venous thrombosis Lymphocytosis Intermediate uveitis Desquamation of skin soon after birth Aplasia/Hypoplasia of the eyebrow Abnormal lymphocyte morphology Protracted diarrhea Metaphyseal chondrodysplasia Hypoplasia of the thymus Hashimoto thyroiditis Thyroiditis Erythroderma Severe short stature Scaling skin Disproportionate short-limb short stature Increased body weight Thickened skin Abnormality of the metaphysis Dry skin Hypotrichosis Hypofibrinogenemia Polyneuritis Short digit Long philtrum Postnatal growth retardation Thin upper lip vermilion Hypogonadism Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Intellectual disability, mild Retinal dystrophy Vomiting Anteverted nares Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Brachydactyly Downturned corners of mouth Single transverse palmar crease Growth delay Spondyloepiphyseal dysplasia Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Tachypnea Premature birth Narrow palpebral fissure Finger clinodactyly Cardiomegaly Eczema Underdeveloped nasal alae Short metacarpal Abnormal facial shape Microcephaly Plasmacytosis Lymphopenia Recurrent lower respiratory tract infections IgA deficiency Malnutrition Abnormality of pelvic girdle bone morphology Recurrent upper respiratory tract infections Leukoencephalopathy Neutropenia Verrucae Platyspondyly Respiratory tract infection Recurrent respiratory infections Abnormality of the skeletal system Abnormal natural killer cell physiology Lipogranulomatosis B-cell lymphoma IgM deficiency Short stature Absent tonsils Intellectual disability Absent specific antibody response Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Lack of T cell function Abnormality of humoral immunity Immunoglobulin IgG2 deficiency Increased IgE level Recurrent opportunistic infections Cortical sclerosis Aplasia of the thymus Anterior rib cupping Diffuse mesangial sclerosis Decrease in T cell count Pulmonary insufficiency Decreased platelet glycoprotein IIb-IIIa



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