Hepatomegaly, and Thrombocytopenia

Diseases related with Hepatomegaly and Thrombocytopenia

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

Top matches:

IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6 Is also known as antibody deficiency due to cd81 defect

Related symptoms:

  • Hepatomegaly
  • Renal insufficiency
  • Immunodeficiency
  • Thrombocytopenia
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Muscular hypotonia
  • Anemia


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

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

Other less relevant matches:

Noncirrhotic portal hypertension is an autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Liver function is normal, and the disorder is relatively benign (Vilarinho et al., 2016).

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET FAMILIAL NONCIRRHOTIC PORTAL HYPERTENSION

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.

PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS Is also known as persistent polyclonal b-cell lymphocytosis with binucleated lymphocytes|ppbl

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Medium match DENGUE FEVER

Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS).

DENGUE FEVER Is also known as df|dengue virus infection

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Diarrhea
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about DENGUE FEVER

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency|chai|ctla4 haploinsufficiency with autoimmune infiltration|ctla-4 haploinsufficiency with autoimmune infiltration disease

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Thrombocytopenia

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Recurrent infections Decreased antibody level in blood Skin rash Respiratory tract infection Recurrent respiratory infections Hepatosplenomegaly Global developmental delay

Rare Symptoms - Less than 30% cases

Ascites Generalized lymphadenopathy Lymphoma Lymphopenia Arthralgia Pneumonia Renal insufficiency Autoimmune hemolytic anemia Sinusitis Recurrent upper respiratory tract infections Diarrhea Pain Hemophagocytosis Autoimmunity Gastrointestinal hemorrhage Nausea and vomiting Purpura Intellectual disability Growth delay Neutropenia Lethargy Flushing Follicular hyperplasia Lymphocytosis Chronic lymphatic leukemia IgM deficiency Antinuclear antibody positivity Leukocytosis Psoriasiform dermatitis Leukemia Interstitial pulmonary abnormality Dysgammaglobulinemia Neoplasm Thyroiditis Autoimmune thrombocytopenia Verrucae Granulomatosis Impaired T cell function Histiocytosis Recurrent aphthous stomatitis Stomatitis Humoral immunodeficiency Failure to thrive Cardiorespiratory arrest Bruising susceptibility Gingival bleeding Petechiae Cerebral hemorrhage Hypoproteinemia Arthritis Shock Leukopenia Eczema Epistaxis Abnormal lung morphology Hypotension Pruritus Fatigue Abdominal pain Headache Lymphoproliferative disorder Abnormal intestine morphology Chronic infection Recurrent sinusitis Recurrent pneumonia Bronchiectasis Hepatic failure Respiratory failure Dilatation Immune dysregulation Hemolytic anemia Pulmonary infiltrates Renal tubular dysfunction Cirrhosis Abnormality of the liver Elevated hepatic transaminase Myopathy Hypertension Hypofibrinogenemia Increased serum ferritin Hypertriglyceridemia Proteinuria Generalized hypotonia Seizures Hemiplegia/hemiparesis Venous thrombosis Hyperammonemia Pancreatitis Choreoathetosis Chorea Sepsis Coma Dystonia Respiratory distress Optic atrophy Muscular hypotonia Glomerulonephritis Cholestasis Portal hypertension IgG deficiency Abnormality of the cardiovascular system Hodgkin lymphoma Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Pancytopenia Recurrent bacterial infections Megakaryocyte dysplasia Prolonged bleeding time Radial deviation of finger Trigonocephaly Pyloric stenosis Finger syndactyly Abnormality of the coagulation cascade Clinodactyly Syndactyly Long philtrum Intrauterine growth retardation Low-set ears Ptosis Abnormal facial shape Micrognathia Hypertelorism Intrahepatic portal vein sclerosis Portal fibrosis Esophageal varix Decreased proportion of CD4-positive T cells


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