Hepatomegaly, and Recurrent infections

Diseases related with Hepatomegaly and Recurrent infections

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

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

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

Low match CAROLI DISEASE

Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

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

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

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

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

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

Related symptoms:

  • Pain
  • Anemia
  • Hepatomegaly
  • Splenomegaly
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY TYPE III

Top 5 symptoms//phenotypes associated to Hepatomegaly and Recurrent infections

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
Eczematoid dermatitis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cellulitis Failure to thrive Liver abscess Lymphadenopathy Decreased antibody level in blood Hepatosplenomegaly

Rare Symptoms - Less than 30% cases

Recurrent Klebsiella infections Discoid lupus rash Abnormality of the liver Rectal abscess Recurrent bacterial skin infections Recurrent Staphylococcus aureus infections Recurrent Aspergillus infections Recurrent Serratia marcescens infections Decreased activity of NADPH oxidase Recurrent E. coli infections Absence of bactericidal oxidative respiratory burst in phagocytes Recurrent Burkholderia cepacia infections Negative nitroblue tetrazolium reduction test Pain Fever Anemia Growth delay Cirrhosis Granulomatosis Lymphadenitis Osteomyelitis Skin rash Recurrent pneumonia Recurrent skin infections Diarrhea Severe combined immunodeficiency Abnormality of the cardiovascular system Scarring Pallor Arthritis Hypothyroidism Congestive heart failure Fatigue Osteopetrosis Abnormality of the pancreas Abnormal thrombocyte morphology Micronodular cirrhosis Prolonged neonatal jaundice Leukopenia Decreased liver function Hepatic steatosis Hepatic failure Extramedullary hematopoiesis Abnormality of the lymph nodes Microcytic anemia Atransferrinemia Hypochromic microcytic anemia Sepsis Pancytopenia Inflammatory abnormality of the skin Recurrent otitis media Increased body weight Decrease in T cell count Oral ulcer Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Abnormal bleeding Hypochromic anemia Epistaxis Subcutaneous nodule Leukocytosis Eczema Petechiae Otitis media Cough Gastroesophageal reflux Hypermetropia Episodic fever Abnormality of the nervous system Neutropenia Hypertension Impaired memory B cell generation IgE deficiency Absence of lymph node germinal center Impaired Ig class switch recombination Increased IgM level IgG deficiency IgA deficiency Respiratory distress Dilatation Recurrent candida infections Panhypogammaglobulinemia Combined immunodeficiency Glomerulonephritis Purpura Proteinuria Arthralgia Recurrent respiratory infections Thrombocytopenia Vomiting Abdominal pain Elevated hepatic transaminase Cholangiocarcinoma Jaundice Sensorineural hearing impairment Hearing impairment Seizures Intellectual disability Lung abscess Perianal abscess Inflammation of the large intestine Respiratory tract infection Epigastric pain Abnormality of the kidney Cholangitis Esophageal varix Renal insufficiency Portal hypertension Polycystic kidney dysplasia Cholestasis Ascites Renal cyst Pruritus Decreased platelet glycoprotein IIb-IIIa


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