Fever, and Hepatosplenomegaly

Diseases related with Fever and Hepatosplenomegaly

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


Top matches:

High match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5


Related symptoms:

  • Hepatosplenomegaly
  • Hypertriglyceridemia
  • Episodic fever
  • Increased serum ferritin
  • Hemophagocytosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5

High match PRIMARY MYELOFIBROSIS


Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension.

PRIMARY MYELOFIBROSIS Is also known as myelofibrosis with myeloid metaplasia|idiopathic myelofibrosis|agnogenic myeloid metaplasia|osteomyelofibrosis

Related symptoms:

  • Fever
  • Fatigue
  • Splenomegaly
  • Hepatosplenomegaly
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MYELOFIBROSIS

High match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3


Secretion of the contents of cytolytic granules at the immunologic synapse is a highly regulated process essential for lymphocyte cytotoxicity. This process requires the rapid transfer of perforin (OMIM )-containing lytic granules to the target cell interface, followed by their docking and fusion with the plasma membrane. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. For a more detailed description of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 Is also known as hplh3|hlh3

Related symptoms:

  • Anemia
  • Fever
  • Hepatosplenomegaly
  • Pancytopenia
  • Hypertriglyceridemia


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3

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Other less relevant matches:

High match PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3


Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|mdr3 deficiency|pfic3

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 3

High match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4


Hemophagocytic lymphohistiocytosis is a hyperinflammatory disorder clinically diagnosed based on the fulfillment of 5 of 8 criteria, including fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, hemophagocytosis, low or absent natural killer (NK) cell activity, hyperferritinemia, and high soluble IL2 receptor levels (IL2R ). The disorder typically presents in infancy or early childhood. Persistent remission is rarely achieved with chemo- or immunotherapy; hematopoietic stem cell transplantation is the only cure (summary by Muller et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of familial hemophagocytic lymphohistiocytosis (FHL), see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 Is also known as hlh4|hplh4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4

High match MAJEED SYNDROME; MJDS


MAJEED SYNDROME; MJDS Is also known as chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and neutrophilic dermatosis

Related symptoms:

  • Growth delay
  • Anemia
  • Flexion contracture
  • Fever
  • Delayed skeletal maturation


SOURCES: OMIM MENDELIAN

More info about MAJEED SYNDROME; MJDS

High match LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2


Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

High match HEREDITARY NEUTROPHILIA


Related symptoms:

  • Anemia
  • Fever
  • Weight loss
  • Dyspnea
  • Hepatosplenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY NEUTROPHILIA

High match T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY


T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

High match SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS


Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Top 5 symptoms//phenotypes associated to Fever and Hepatosplenomegaly

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Hemophagocytosis Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Pancytopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertriglyceridemia Lymphadenopathy Skin rash

Rare Symptoms - Less than 30% cases


Autoimmunity Inflammatory abnormality of the skin Hypofibrinogenemia Arthralgia Growth delay Diarrhea Failure to thrive Uveitis Episodic fever Increased serum ferritin Falls Eosinophilia Neutrophilia Joint swelling Juvenile rheumatoid arthritis Elevated C-reactive protein level Thickened calvaria Pericardial effusion Myelodysplasia Dyspnea Tachycardia Pericarditis Anterior uveitis Weight loss T-cell lymphoma Impaired T cell function Lymphoproliferative disorder Aplastic anemia Refractory anemia Megakaryocyte dysplasia Arthritis Recurrent opportunistic infections Pleural effusion Myalgia Rheumatoid arthritis Elevated erythrocyte sedimentation rate Abdominal pain Visual loss Visual impairment Failure to thrive secondary to recurrent infections Oral ulcer Elevated leukocyte alkaline phosphatase Combined immunodeficiency Severe combined immunodeficiency Increased body weight Recurrent otitis media Eczema Otitis media Cough Gastroesophageal reflux Decrease in T cell count Congenital hypoplastic anemia Decreased antibody level in blood Reduced natural killer cell activity Cholestasis Hepatic failure Cirrhosis Malabsorption Pruritus Elevated hepatic transaminase Jaundice Hypertension Granulocytopenia Intrahepatic cholestasis Abnormality of coagulation Decreased liver function Myelofibrosis Myeloproliferative disorder Purpura Pallor Fatigue Abnormal natural killer cell physiology Portal hypertension Bile duct proliferation Lymphoma Osteomyelitis Ascites Immunodeficiency Neoplasm Chronic recurrent multifocal osteomyelitis Low-grade fever Decreased mean corpuscular volume Anemia of inadequate production Microcytic anemia Psoriasiform dermatitis Portal fibrosis Bone pain Delayed skeletal maturation Flexion contracture Neutropenia Thrombocytopenia Generalized hypotonia Global developmental delay Seizures Serositis



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