Hepatomegaly, and Lymphopenia

Diseases related with Hepatomegaly and Lymphopenia

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

Top matches:

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

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

SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

Other less relevant matches:

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

Immunodeficiency due to CD25 deficiency is a rare, genetic, primary immunodeficiency due to a defect in adaptive immunity disorder characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY Is also known as cd25 deficiency|interleukin 2 receptor, alpha, deficiency of|interleukin-2 receptor alpha chain deficiency|il2ra deficiency

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Respiratory insufficiency
  • Diarrhea
  • Splenomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMMUNODEFICIENCY DUE TO CD25 DEFICIENCY

Immunodeficiency-47 is an X-linked recessive complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins. Some patients may also have neurologic abnormalities (summary by Jansen et al., 2016).

IMMUNODEFICIENCY 47; IMD47 Is also known as immunodeficiency and hepatopathy with or without neurologic features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 47; IMD47

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

Medium match ISOVALERIC ACIDEMIA

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA Is also known as ivd deficiency|isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOVALERIC ACIDEMIA

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Medium 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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Lymphopenia

Symptoms // Phenotype % cases
Diarrhea Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Thrombocytopenia Decreased antibody level in blood Pneumonia Hepatosplenomegaly Skin rash Recurrent bacterial infections Fever Failure to thrive Chronic diarrhea Thyroiditis Autoimmune hemolytic anemia Recurrent fungal infections Lymphoma Hemolytic anemia Autoimmunity Abnormal intestine morphology Recurrent respiratory infections Anemia Leukopenia Severe combined immunodeficiency Inflammatory abnormality of the skin Pancytopenia Eczema

Rare Symptoms - Less than 30% cases

Autoimmune thrombocytopenia Edema Shock Humoral immunodeficiency Hypoproteinemia Respiratory tract infection Abnormal lung morphology Lethargy Psoriasiform dermatitis Alopecia B lymphocytopenia Impaired T cell function Elevated hepatic transaminase Hypothyroidism IgA deficiency Recurrent viral infections Pruritus Arthralgia Seizures Abnormality of the liver Recurrent bronchitis Hypoplasia of the thymus Growth delay Lymphoproliferative disorder Generalized lymphadenopathy Immune dysregulation Increased body weight Recurrent otitis media Otitis media Decrease in T cell count IgG deficiency Bronchitis Ascites Combined immunodeficiency Metaphyseal chondrodysplasia Methylmalonic acidemia Hyperglycinuria Episodic ketoacidosis Cellular immunodeficiency Abnormal myelination Hyperglycinemia Cerebral edema Methylmalonic aciduria Organic aciduria Protracted diarrhea Dry skin Ketoacidosis Ischemic stroke Brachycephaly Bone marrow hypocellularity Dehydration Aciduria Coma Metabolic acidosis Stroke Acidosis Vomiting Abnormal lymphocyte morphology Desquamation of skin soon after birth Feeding difficulties Cerebellar hemorrhage Hashimoto thyroiditis Anal atresia Scaling skin Sepsis Hypotrichosis Nephrotic syndrome Papule Severe short stature Posterior pharyngeal cleft Autoimmune neutropenia Abnormality of the metaphysis Thickened skin Short toe Recurrent infection of the gastrointestinal tract Disproportionate short-limb short stature Gastrointestinal stroma tumor Eosinophilia IgM deficiency Neutropenia Recurrent sinusitis Restrictive ventilatory defect Erythroderma Emphysema Leukocytosis Chronic otitis media Aplasia/Hypoplasia of the eyebrow Failure to thrive in infancy Purpura Conjunctivitis Recurrent pneumonia Vasculitis Sinusitis Bronchiectasis Global developmental delay Hearing impairment Flushing Dysgammaglobulinemia Diabetes mellitus Respiratory insufficiency Decreased proportion of CD4-positive T cells Verrucae Interstitial pulmonary abnormality Recurrent upper respiratory tract infections Arthritis Recurrent bacterial meningitis Chronic oral candidiasis Plethora Choroideremia Agammaglobulinemia Meningitis Granulomatosis Increased antibody level in blood Hemophagocytosis Histiocytosis Recurrent aphthous stomatitis Stomatitis Pulmonary infiltrates Hodgkin lymphoma Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Cough Gastroesophageal reflux Type I diabetes mellitus Iron deficiency anemia Cardiorespiratory arrest Hepatic steatosis Gingival bleeding Petechiae Cerebral hemorrhage Epistaxis Hypotension Gastrointestinal hemorrhage Bruising susceptibility Nausea and vomiting Abdominal pain Headache Pain Micronodular cirrhosis Prolonged neonatal jaundice Decreased liver function Hepatic failure Atopic dermatitis Cirrhosis Hypermetropia Abnormality of the nervous system Jaundice Sensorineural hearing impairment Intellectual disability Chronic hemolytic anemia Granulocytopenia Bronchiolitis Villous atrophy Chronic lung disease Esophagitis Antinuclear antibody positivity Gingivitis Severe B lymphocytopenia


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