Hepatomegaly, and Eczema

Diseases related with Hepatomegaly and Eczema

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Eczema 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

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

Other less relevant 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

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Related symptoms:

  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Alopecia
  • Hyperkeratosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLASSIC MYCOSIS FUNGOIDES

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

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis|cgd

Related symptoms:

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption


SOURCES: ORPHANET MENDELIAN

More info about CHRONIC GRANULOMATOUS DISEASE

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

Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.'

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE Is also known as cgd due to deficiency of the alpha subunit of cytochrome b|cyba deficiency|cgd, autosomal recessive cytochrome b-negative

Related symptoms:

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Diarrhea


SOURCES: OMIM MENDELIAN

More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-NEGATIVE

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Eczema

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Lymphadenopathy Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Eczematoid dermatitis Psoriasiform dermatitis Liver abscess Recurrent infections Recurrent Serratia marcescens infections Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Burkholderia cepacia infections Failure to thrive Negative nitroblue tetrazolium reduction test Respiratory tract infection Growth delay Recurrent Klebsiella infections Recurrent respiratory infections Decreased activity of NADPH oxidase Recurrent Staphylococcus aureus infections Recurrent Aspergillus infections Lymphadenitis Discoid lupus rash Rectal abscess Recurrent bacterial skin infections Granulomatosis Cellulitis Osteomyelitis Inflammatory abnormality of the skin Recurrent pneumonia

Rare Symptoms - Less than 30% cases

Leukocytosis Anemia Alopecia Skin ulcer Abnormal lung morphology Recurrent bacterial infections Increased antibody level in blood Thyroiditis Autoimmune hemolytic anemia Abnormal intestine morphology Decrease in T cell count Gingivitis Fever Otitis media Recurrent skin infections Skin rash Severe combined immunodeficiency Iron deficiency anemia Progressive muscle weakness Chronic lung disease Progressive proximal muscle weakness Esophagitis Severe failure to thrive Antinuclear antibody positivity Atopic dermatitis Recurrent pharyngitis Proximal muscle weakness IgA deficiency Recurrent viral infections Type I diabetes mellitus Chronic diarrhea Hemolytic anemia Hypothyroidism Diabetes mellitus Respiratory insufficiency Gastrointestinal inflammation Abnormality of neutrophils Mediastinal lymphadenopathy Pyelonephritis Immune dysregulation Villous atrophy Rhinorrhea Myalgia Inflammatory abnormality of the eye Congestive heart failure Myopathy Cardiomyopathy Ptosis Muscle weakness Scoliosis Deficiency or absence of cytochrome b(-245) Chronic infection Abnormality of the liver Elevated hepatic transaminase Stomatitis Rhinitis Dilated cardiomyopathy Abdominal pain Renal insufficiency Pain Chronic hemolytic anemia Granulocytopenia Recurrent fungal infections Bronchiolitis Elevated serum creatine phosphokinase Arthritis Chronic obstructive pulmonary disease Recurrent opportunistic infections Neoplasm of the skin Abnormality of the nail Lymphoma Dry skin Hypotrichosis Pruritus Erythema Hyperkeratosis Edema Failure to thrive secondary to recurrent infections Oral ulcer Erythroderma Increased body weight Recurrent otitis media Pancytopenia Cough Gastroesophageal reflux Lung abscess Perianal abscess Inflammation of the large intestine Recurrent candida infections Panhypogammaglobulinemia Combined immunodeficiency Hypopigmented skin patches Irregular hyperpigmentation Macule Verrucae Hypermelanotic macule Tracheoesophageal fistula Pyloric stenosis Meningitis Sinusitis Cutaneous photosensitivity Sepsis Malabsorption Decreased proportion of CD4-positive T cells Impaired T cell function Autoimmune thrombocytopenia Abnormal eyelid morphology Interstitial pulmonary abnormality Recurrent upper respiratory tract infections Lymphopenia Decreased antibody level in blood Thrombocytopenia Cutaneous T-cell lymphoma Abnormal lymphocyte morphology Skin plaque T-cell lymphoma Abnormality of bone marrow cell morphology Poikiloderma Pharyngitis


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