Edema, and Decreased antibody level in blood

Diseases related with Edema and Decreased antibody level in blood

In the following list you will find some of the most common rare diseases related to Edema and Decreased antibody level in blood that can help you solving undiagnosed cases.

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Pancytopenia due to IKZF1 mutations is a rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.

PANCYTOPENIA DUE TO IKZF1 MUTATIONS Is also known as cid due to ikaros deficiency|combined immunodeficiency due to ikaros deficiency

Related symptoms:

  • Anemia
  • Edema
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PANCYTOPENIA DUE TO IKZF1 MUTATIONS

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

Other less relevant matches:

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).

Related symptoms:

  • Growth delay
  • Pain
  • Anemia
  • Hepatomegaly
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE

Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).

MULTIPLE MYELOMA Is also known as plasma cell myeloma|myelomatosis|kahler's disease|medullary plasmacytoma

Related symptoms:

  • Neoplasm
  • Anemia
  • Fatigue
  • Splenomegaly
  • Weight loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE MYELOMA

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Low match MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Top 5 symptoms//phenotypes associated to Edema and Decreased antibody level in blood

Symptoms // Phenotype % cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Decreased antibody level in blood. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sepsis Weight loss Failure to thrive Malnutrition Abnormal intestine morphology Malabsorption Recurrent respiratory infections Hearing impairment Fever Pancytopenia Hepatomegaly

Rare Symptoms - Less than 30% cases

Leukemia Skin rash Growth delay Pain Vomiting Villous atrophy B lymphocytopenia Protein-losing enteropathy Generalized edema Hypoalbuminemia Seizures Global developmental delay Dehydration Thrombocytopenia Alopecia Sensorineural hearing impairment Verrucae Pneumonia Leukopenia Lymphadenopathy Nephrotic syndrome Splenomegaly Ascites Pleural effusion Sparse eyelashes Overlapping fingers Aminoaciduria Abnormality of the hair Dry skin Sparse and thin eyebrow Inflammatory abnormality of the skin Sparse scalp hair Fine hair Eczema Ichthyosis Asthma Intractable diarrhea Pruritus Paraproteinemia Elevated serum creatinine Vertebral compression fractures Multiple myeloma Prostate cancer Increased IgA level Abnormality of the bladder Increased IgG level Functional abnormality of the gastrointestinal tract Monoclonal immunoglobulin M proteinemia Abnormality of vitamin B12 metabolism Hyperproteinemia Hydronephrosis Plasmacytoma Acidosis Metabolic acidosis Hyperlipidemia Hypercholesterolemia Hyponatremia Enterocolitis Recurrent skin infections Intellectual disability Short stature Acanthosis nigricans Ectopic kidney Urticaria Cerebral atrophy IgE-mediated food allergy Generalized hypotonia Scoliosis Abnormal facial shape Muscular hypotonia High palate Feeding difficulties Optic atrophy Hypoplasia of the corpus callosum Abnormality of metabolism/homeostasis Hypoventilation Constipation Retrognathia Feeding difficulties in infancy Blepharophimosis Hepatic failure Wide nose Recurrent fractures Short palpebral fissure Long eyelashes Prominent occiput Thoracic scoliosis Brittle scalp hair Brittle hair Spinal cord compression Intracranial hemorrhage Scaling skin Psoriasiform dermatitis Erythroderma Emphysema Abnormality of the musculature Congenital ichthyosiform erythroderma Irregular hyperpigmentation Atopic dermatitis Severe postnatal growth retardation Hypernatremic dehydration Hypothermia Allergy Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Allergic rhinitis Increased IgE level Angioedema Immunologic hypersensitivity Hypernatremia Chronic constipation Neoplasm of the pancreas Aplasia/Hypoplasia of the thymus Acute kidney injury Hypoproteinemia Respiratory tract infection Clubbing Intestinal obstruction Iron deficiency anemia Thromboembolism Pulmonary embolism Thrombocytosis Hypercoagulability Intestinal lymphangiectasia Dysgammaglobulinemia Budd-Chiari syndrome Hepatic vein thrombosis Hypoproteinemic edema Hypertension Hypothyroidism Neutropenia Otitis media Pulmonary arterial hypertension Recurrent otitis media Abdominal pain Generalized lymphadenopathy Bone marrow hypocellularity Pericardial effusion Polyhydramnios Aspiration Recurrent bacterial infections Acute lymphoblastic leukemia Hepatosplenomegaly Autoimmunity Hemolytic anemia Lymphoma Elevated erythrocyte sedimentation rate Autoimmune hemolytic anemia Granulomatosis Hodgkin lymphoma IgG deficiency Pulmonary infiltrates Lymphoproliferative disorder Immune dysregulation Stomatitis Recurrent aphthous stomatitis Histiocytosis Hemophagocytosis Lymphedema Spontaneous abortion Amyloidosis Paresthesia Granulocytopenia Abnormality of the thymus Aplasia of the thymus Agranulocytosis Congenital agranulocytosis Lack of T cell function Neoplasm Fatigue Osteopenia Nephropathy Abnormality of neutrophils Polyneuropathy Generalized muscle weakness Tall stature Bone pain Hypercalcemia Increased antibody level in blood Colon cancer Pathologic fracture Abnormality of blood and blood-forming tissues Impaired T cell function Cellular immunodeficiency Venous thrombosis Severe viral infections Myelodysplasia Myeloid leukemia Acute myeloid leukemia Severe sensorineural hearing impairment Aplastic anemia Recurrent viral infections Recurrent fungal infections Panniculitis Alveolar proteinosis Chronic myelomonocytic leukemia Hypoplasia of the thymus Monocytopenia Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Skin ulcer Abnormality of mitochondrial metabolism Chronic otitis media Combined immunodeficiency IgA deficiency Severe combined immunodeficiency Hand clenching


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