Hepatomegaly, and Meningitis

Diseases related with Hepatomegaly and Meningitis

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

Top matches:

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 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, COMMON VARIABLE, 2; CVID2 Is also known as antibody deficiency due to taci defect|hypogammaglobulinemia due to taci deficiency

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2

Other less relevant matches:

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Top 5 symptoms//phenotypes associated to Hepatomegaly and Meningitis

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Skin rash Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Failure to thrive Immunodeficiency Vasculitis Lymphoma Anemia Growth delay Increased intracranial pressure Inflammatory abnormality of the eye Neoplasm Global developmental delay Coma Irritability Elevated hepatic transaminase Jaundice Ataxia Hemophagocytosis Encephalitis Thrombocytopenia Hepatic failure Pancytopenia Sepsis Arthralgia Diarrhea Recurrent infections Decreased antibody level in blood Pain

Rare Symptoms - Less than 30% cases

Vomiting Edema Arthritis Generalized hypotonia Nausea and vomiting Histiocytosis Increased antibody level in blood Cellular immunodeficiency Immune dysregulation Myalgia Joint dislocation Urticaria Uveitis Purpura Hypertonia Hyperbilirubinemia Sensorineural hearing impairment Hemiplegia Increased total bilirubin CSF pleocytosis Prolonged prothrombin time Generalized edema Hypoproteinemia Increased CSF protein Hyponatremia Hypoalbuminemia Hypofibrinogenemia Feeding difficulties Leukopenia Decreased liver function Intellectual disability Hypertriglyceridemia Tetraplegia Abdominal pain Abnormality of the liver Increased serum ferritin Leukocytosis Otitis media Recurrent bronchitis Pneumonia Abnormality of neutrophils Autoimmunity Bronchiectasis Recurrent bacterial infections Conjunctivitis Combined immunodeficiency Severe combined immunodeficiency Agammaglobulinemia IgG deficiency Transient aminoaciduria Recurrent hypoglycemia Emphysema Proximal tubulopathy Restrictive ventilatory defect Pericardial effusion Abnormal heart valve morphology Hyperphosphaturia Glomerulopathy Hemoptysis Irregular hyperpigmentation Hemiplegia/hemiparesis Chronic diarrhea Angioedema Complement deficiency Immunologic hypersensitivity Episcleritis Obstructive lung disease Small vessel vasculitis Hearing impairment Abnormal facial shape Hypersomnia Disseminated intravascular coagulation Bicarbonaturia Hematuria Peripheral neuropathy Renal insufficiency Dyspnea Fructose intolerance Hyperuricosuria Proteinuria Cough Pruritus Bronchitis Sensory neuropathy Nephritis Ascites Proximal renal tubular acidosis Cranial nerve paralysis Cerebral palsy Visual impairment Reduced tendon reflexes Lymphopenia Pleural effusion Hypergalactosemia Memory impairment Frontal bossing Brachydactyly Pulmonary infiltrates Leukemia Confusion Hemolytic anemia Gliosis Peripheral demyelination Aspiration Eosinophilia Albinism Abnormality of the coagulation cascade Episodic fever Acute leukemia Encephalopathy Prolonged partial thromboplastin time Decreased HDL cholesterol concentration Increased LDL cholesterol concentration Partial albinism Granulocytopenia T-cell lymphoma Increased VLDL cholesterol concentration Polyneuritis Plasmacytosis Lipogranulomatosis Abnormality of the nervous system Muscular hypotonia Macrocephaly Reduced bone mineral density Fatigue Neonatal hypoglycemia Blindness Proptosis Skeletal dysplasia EEG abnormality Papule Migraine Premature birth Overgrowth Elevated erythrocyte sedimentation rate Abnormal granulocyte morphology Progressive sensorineural hearing impairment Abnormal joint morphology Arthropathy Amyloidosis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Pseudopapilledema Retrobulbar optic neuritis Ketosis Hypophosphatemia Renal tubular acidosis Mediastinal lymphadenopathy Recurrent sinopulmonary infections Thyroiditis IgA deficiency Recurrent sinusitis Headache Recurrent pneumonia Recurrent otitis media Carcinoma Diplopia Liver abscess Chronic obstructive pulmonary disease Reduced natural killer cell activity Gingivitis Macule Abnormality of coagulation Hypermelanotic macule Tracheoesophageal fistula Papilledema Pyloric stenosis Skin ulcer Sinusitis Cutaneous photosensitivity Fulminant hepatitis Pharyngitis Malabsorption Recurrent pharyngitis Hemiparesis Respiratory failure Bone marrow hypocellularity Dilatation Sarcoma Gastrointestinal carcinoma Hodgkin lymphoma B-cell lymphoma Aplastic anemia Follicular hyperplasia Impaired T cell function Non-Hodgkin lymphoma Lymphocytosis IgM deficiency Hepatic encephalopathy Granulomatosis Chorioretinitis Increased IgM level Dysgammaglobulinemia Pure red cell aplasia Hepatic necrosis Burkitt lymphoma Eczema Recurrent respiratory infections Hyperuricemia Hepatic steatosis Humoral immunodeficiency Choroideremia Acidosis Hypoglycemia Recurrent fungal infections Lethargy Carious teeth Lactic acidosis Nausea Cirrhosis Nephropathy Chronic recurrent multifocal osteomyelitis Metabolic acidosis Gastrointestinal hemorrhage Aciduria Hypoplasia of the thymus Shock Hypokalemia Malnutrition Falls Glycosuria Prolonged neonatal jaundice Onychomadesis Periostitis Recurrent bacterial meningitis Hyperostosis Respiratory insufficiency Respiratory distress Hyperkeratosis Osteopenia Chronic oral candidiasis Epidermal acanthosis Inflammatory abnormality of the skin Osteolysis Scaling skin Psoriasiform dermatitis Plethora Cerebral vasculitis Osteomyelitis Interstitial pulmonary abnormality Vertebral fusion Fragile skin Joint swelling Pustule Thrombocytosis Stomatitis Fused cervical vertebrae Fetal distress Low-grade fever Abnormal natural killer cell physiology


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