Failure to thrive, and Meningitis

Diseases related with Failure to thrive and Meningitis

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

Top matches:

Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY Is also known as t-b+ scid due to jak3 deficiency|scid, t cell-negative, b cell-positive, nk cell-negative

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Pneumonia
  • Meningitis
  • Recurrent upper respiratory tract infections


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO JAK3 DEFICIENCY

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: MESH OMIM MENDELIAN

More info about MANNOSE-BINDING LECTIN DEFICIENCY; MBLD

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY

Other less relevant matches:

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2 Is also known as bls|major histocompatibility complex class ii expression deficiency|bare lymphocyte syndrome type 2|bls, type ii|hla class 2-negative severe combined immunodeficiency|bare lymphocyte syndrome|scid, hla class ii-negative|hla class 2-negative scid|mhc class

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Malabsorption
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 2

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY Is also known as scid, t cell-negative, b cell-negative, nk cell-positive|scid due to complete rag1/2 deficiency

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Pneumonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY

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

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

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

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Meningitis

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Agammaglobulinemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Chronic diarrhea Combined immunodeficiency Recurrent infections Severe combined immunodeficiency Anemia Hypoplasia of the thymus Panhypogammaglobulinemia Sepsis Neutropenia Hepatomegaly

Rare Symptoms - Less than 30% cases

Seizures Recurrent fungal infections Fever Lymphopenia Growth delay Jaundice Global developmental delay Vomiting Splenomegaly Aciduria Chronic oral candidiasis Hepatosplenomegaly Elevated hepatic transaminase Irritability Coma Decreased liver function Abnormality of the liver Intellectual disability Encephalitis Hemophagocytosis Otitis media Conjunctivitis Recurrent upper respiratory tract infections Thrombocytopenia Cutaneous anergy Recurrent bacterial infections Respiratory tract infection Folate-unresponsive megaloblastic anemia Gastrointestinal hemorrhage Oroticaciduria Low-set, posteriorly rotated ears Nephropathy Impaired T cell function Poikilocytosis Hyperbilirubinemia Megaloblastic anemia Metabolic acidosis Hepatic failure Hepatic steatosis Orotic acid crystalluria Hypokalemia Cirrhosis Nausea Lactic acidosis Carious teeth Lethargy Pyrimidine-responsive megaloblastic anemia Hypoglycemia Acidosis Abdominal pain Feeding difficulties Pain Shock Anisocytosis Malnutrition Hip dysplasia Patent ductus arteriosus Hematuria Atrial septal defect Ventricular septal defect Downslanted palpebral fissures Wide nasal bridge Hypertelorism Transient aminoaciduria Bicarbonaturia Fructose intolerance Hyperuricosuria CSF pleocytosis Hypergalactosemia Disseminated intravascular coagulation Recurrent respiratory infections Hypersomnia Proximal tubulopathy Hyperphosphaturia Recurrent hypoglycemia Aminoaciduria Abnormality of the ureter Ketosis Neonatal hypoglycemia Renal tubular acidosis Hyperuricemia Prolonged neonatal jaundice Glycosuria Hypophosphatemia Abnormal toenail morphology Proximal renal tubular acidosis Tetraplegia Hypofibrinogenemia Malabsorption Decrease in T cell count Arthritis Recurrent protozoan infections Chronic lymphocytic meningitis Viral hepatitis Protracted diarrhea Cholangitis Villous atrophy Recurrent viral infections Chronic mucocutaneous candidiasis Recurrent lower respiratory tract infections Colitis Recurrent urinary tract infections Intermittent thrombocytopenia Mastoiditis Recurrent sinopulmonary infections Osteomyelitis Cardiac arrest Disseminated cryptosporidium infection Recurrent meningococcal disease Susceptibility to herpesvirus Recurrent Klebsiella infections IgA deficiency Recurrent skin infections Respiratory failure Neoplasm Abnormality of the lymph nodes Intestinal obstruction B lymphocytopenia Recurrent opportunistic infections Increased total bilirubin Diplopia Prolonged prothrombin time Immune dysregulation Generalized edema Hypoproteinemia Papilledema Increased serum ferritin Increased CSF protein Abnormality of coagulation Hyponatremia Hemiplegia Hypoalbuminemia Increased intracranial pressure Leukopenia Hypertriglyceridemia Failure to thrive secondary to recurrent infections Pancytopenia Lymphadenopathy Headache Hypertonia Edema Ataxia Generalized hypotonia Recurrent bacterial meningitis Plethora Humoral immunodeficiency Choroideremia Recurrent bronchitis Bronchitis Skin rash Reduced orotidine 5-prime phosphate decarboxylase activity


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