Hepatomegaly, and Lymphadenopathy

Diseases related with Hepatomegaly and Lymphadenopathy

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

Top matches:

Medium match FISH-EYE DISEASE

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

FISH-EYE DISEASE Is also known as dyslipoproteinemic corneal dystrophy|alpha-lcat deficiency|lcata deficiency|partial lcat deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye


SOURCES: OMIM ORPHANET MENDELIAN

More info about FISH-EYE DISEASE

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

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

Other less relevant matches:

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

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

Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.

DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Constipation


SOURCES: MESH ORPHANET MENDELIAN

More info about DESMOPLASTIC SMALL ROUND CELL TUMOR

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

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Lymphadenopathy

Symptoms // Phenotype % cases
Splenomegaly Very Common - Between 80% and 100% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Autoimmunity Skin rash Ascites Pancytopenia Lymphoma Pneumonia Granulomatosis Recurrent infections

Rare Symptoms - Less than 30% cases

Rectal abscess Liver abscess Discoid lupus rash Lymphadenitis Recurrent Staphylococcus aureus infections Recurrent Aspergillus infections Abdominal pain Recurrent bacterial skin infections Visual impairment Cellulitis Decreased activity of NADPH oxidase Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Burkholderia cepacia infections Recurrent Serratia marcescens infections Negative nitroblue tetrazolium reduction test Respiratory tract infection Thrombocytopenia Eczema Elevated erythrocyte sedimentation rate Pleural effusion Eczematoid dermatitis Recurrent Klebsiella infections Osteomyelitis Uveitis Generalized lymphadenopathy Neoplasm Decreased antibody level in blood Visual loss Lymphoproliferative disorder Hemophagocytosis T-cell lymphoma Recurrent pneumonia Follicular hyperplasia Abnormality of the peritoneum Rheumatoid arthritis Falls Arthritis Myalgia Arthralgia Gastrointestinal obstruction Abdominal mass Neoplasm of the pancreas Testicular neoplasm Neoplasm of the central nervous system Mediastinal lymphadenopathy Ileus Pericarditis Neoplasm of the lung Ovarian neoplasm Sarcoma Cachexia Abdominal distention Nausea and vomiting Lymphocytosis Chronic lymphatic leukemia Joint swelling IgG deficiency Stomatitis Recurrent aphthous stomatitis Histiocytosis Dysgammaglobulinemia Leukemia Sinusitis Purpura Recurrent upper respiratory tract infections Leukocytosis Pulmonary infiltrates Hodgkin lymphoma Juvenile rheumatoid arthritis Autoimmune hemolytic anemia Pericardial effusion Lymphopenia Hemolytic anemia Antinuclear antibody positivity IgM deficiency Serositis Immune dysregulation Anterior uveitis Elevated C-reactive protein level Weight loss Edema Constipation Combined immunodeficiency Cough Gastroesophageal reflux Diarrhea Failure to thrive Growth delay Lung abscess Perianal abscess Inflammation of the large intestine Recurrent skin infections Impaired T cell function Aplastic anemia Increased VLDL cholesterol concentration Inflammatory abnormality of the skin Increased LDL cholesterol concentration Decreased HDL cholesterol concentration Precocious atherosclerosis Angina pectoris Coronary artery atherosclerosis Atherosclerosis Opacification of the corneal stroma Myocardial infarction Hypertriglyceridemia Corneal opacity Abnormality of the eye Otitis media Recurrent otitis media Pain Abnormality of the nail Cutaneous T-cell lymphoma Abnormal lymphocyte morphology Skin plaque Abnormality of bone marrow cell morphology Poikiloderma Abnormal eyelid morphology Irregular hyperpigmentation Erythroderma Psoriasiform dermatitis Hypopigmented skin patches Neoplasm of the skin Skin ulcer Increased body weight Dry skin Hypotrichosis Pruritus Erythema Hyperkeratosis Alopecia Failure to thrive secondary to recurrent infections Recurrent opportunistic infections Oral ulcer Decrease in T cell count Severe combined immunodeficiency Humoral immunodeficiency


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