Hepatomegaly, and Pneumonia

Diseases related with Hepatomegaly and Pneumonia

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

Top matches:

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY Is also known as zeta-associated-protein 70 deficiency|selective t-cell defect|stcd

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ZAP70 DEFICIENCY

HIGM3, first described in humans by Ferrari et al. (2001), is characterized by hypogammaglobulinemia with normal or elevated levels of IgM.For a general phenotypic description and a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3 Is also known as hyper-igm syndrome 3

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Respiratory distress
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3; HIGM3

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

Other less relevant matches:

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i|neutrophil cytosol factor 1, deficiency of|soc2, deficiency of|p47-phox, deficiency of|soluble oxidase component ii, deficiency of|ncf1, deficiency of|granulomatous disease, chronic, due to ncf1 defic

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2 Is also known as ncf2, deficiency of|granulomatous disease, chronic, due to ncf2 deficiency|cgd, autosomal recessive cytochrome b-positive, type ii|neutrophil cytosol factor 2, deficiency of|p67-phox, deficiency of

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE II; CDG2

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

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

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

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

Top 5 symptoms//phenotypes associated to Hepatomegaly and Pneumonia

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Granulomatosis Decreased antibody level in blood Recurrent pneumonia Eczematoid dermatitis

Rare Symptoms - Less than 30% cases

Fever Recurrent Klebsiella infections Osteomyelitis Cellulitis Skin rash Recurrent bacterial skin infections Rectal abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Recurrent Aspergillus infections Lymphopenia Decreased activity of NADPH oxidase Respiratory failure Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Burkholderia cepacia infections Recurrent Serratia marcescens infections Lymphoma Respiratory tract infection Growth delay Fatigue Thrombocytopenia Negative nitroblue tetrazolium reduction test Liver abscess Hepatosplenomegaly Diarrhea Microcytic anemia IgG deficiency Combined immunodeficiency Hemolytic anemia Severe combined immunodeficiency Epiphyseal dysplasia Global developmental delay Recurrent bacterial meningitis Chronic oral candidiasis Sleep apnea Plethora Humoral immunodeficiency Choroideremia Recurrent fungal infections Chronic infection Pulmonary artery stenosis Hypoplasia of the thymus Recurrent bronchitis Dilatation Agammaglobulinemia Bronchitis Meningitis Chronic diarrhea Dysgammaglobulinemia Generalized lymphadenopathy Hemophagocytosis Neoplasm Thickened skin Recurrent respiratory infections Joint stiffness Abnormal facial shape Recurrent sinusitis Depressed nasal bridge Brachydactyly Wide nasal bridge Anteverted nares Recurrent aphthous stomatitis Long philtrum Dyspnea Apnea Bulbous nose Hoarse voice Thick vermilion border Small hand Full cheeks Round face Limb undergrowth Sinusitis Bronchiectasis Hepatic failure Mitral regurgitation Short stature Histiocytosis Abnormality of the cardiovascular system Stomatitis Cognitive impairment Reduced alpha/beta synthesis ratio Hypersplenism Abnormal hemoglobin Decreased mean corpuscular volume Abnormality of immune system physiology Myelodysplasia Cholelithiasis Hydrops fetalis Jaundice Edema Impaired memory B cell generation Recurrent skin infections IgE deficiency Absence of lymph node germinal center Impaired Ig class switch recombination Increased IgM level IgA deficiency Recurrent bacterial infections Neutropenia Respiratory distress Recurrent candida infections Panhypogammaglobulinemia Hemoglobin H Inflammation of the large intestine Immune dysregulation Atransferrinemia Lymphoproliferative disorder Pulmonary infiltrates Hodgkin lymphoma Autoimmune hemolytic anemia Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Pancytopenia Ascites Autoimmunity Hypochromic anemia Perianal abscess Hypochromic microcytic anemia Abnormality of the pancreas Cirrhosis Scarring Abnormality of the liver Pallor Arthritis Hypothyroidism Congestive heart failure Lung abscess Subglottic stenosis


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