Edema, and Recurrent infections

Diseases related with Edema and Recurrent infections

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

This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.

ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME Is also known as ol-eda-id

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANHIDROTIC ECTODERMAL DYSPLASIA-IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA SYNDROME

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Arthritis
  • Respiratory tract infection
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 53; IMD53

Other less relevant matches:

IMD33 results from X-linked recessive NEMO deficiency, which is associated with various other diseases, including immunodeficiency with hypohidrotic ectodermal dysplasia (OMIM ), together with osteopetrosis and lymphedema (OMIM ) in some patients, and immunodeficiency without ectodermal dysplasia (OMIM ). In contrast with patients with these other forms of X-linked recessive NEMO deficiency, who display a broad susceptibility to infections, infections in IMD33 patients are mostly limited to mycobacterial disease, with M. avium complex being the most common cause. Furthermore, IMD33 patients lack developmental features suggestive of hypohidrotic ectodermal dysplasia. Monocytes from IMD33 patients have intrinsic defects in T cell-dependent IL12 (see {161561}) production, resulting in impaired IFNG (OMIM ) production. The prognosis of IMD33 patients is variable (review by Al-Muhsen and Casanova, 2008).

X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY Is also known as atypical mycobacteriosis, familial, x-linked 1|x-linked mendelian susceptibility to mycobacterial diseases due to nemo deficiency|immunodeficiency 33, mycobacteriosis, x-linked|amcbx1|x-linked msmd due to ikbkg deficiency|x-linked msmd due to nemo deficie

Related symptoms:

  • Immunodeficiency
  • Recurrent infections
  • Delayed eruption of teeth
  • Ectodermal dysplasia
  • Lymphedema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO IKBKG DEFICIENCY

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

PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.

PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION Is also known as facu|familial cold urticaria with common variable immunodeficiency|antibody deficiency and immune dysregulation, plcg2-associated|plaid|familial atypical cold urticaria

Related symptoms:

  • Pain
  • Fever
  • Recurrent infections
  • Arthralgia
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLCG2-ASSOCIATED ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION

BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1 Is also known as cystic fibrosis-like syndrome

Related symptoms:

  • Dehydration
  • Abnormal lung morphology
  • Bronchiectasis
  • Sinusitis
  • Recurrent pneumonia


SOURCES: OMIM MESH MENDELIAN

More info about BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Muscular hypotonia
  • Vomiting
  • Dehydration
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about HYPERCALCEMIA, INFANTILE, 2; HCINF2

Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

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

Symptoms // Phenotype % cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Thrombocytopenia Rare - less than 30% cases
Periorbital edema Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Dehydration Autoimmunity Recurrent bacterial infections Recurrent urinary tract infections Arthritis Osteopetrosis Lymphedema Muscular hypotonia Polyuria Hypercalcemia Hypercalciuria Nephrocalcinosis Vomiting Recurrent streptococcus pneumoniae infections Failure to thrive Osteomyelitis Conical incisor Dry skin Cellulitis Hypodontia Hypophosphatemia Global developmental delay Hypoparathyroidism Everted lower lip vermilion Recurrent viral infections Episodic fever Combined immunodeficiency Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Bifid uvula Scarring Renal phosphate wasting Pes planus Clinodactyly Brachydactyly Short stature Frontal bossing Seizures Medullary nephrocalcinosis Infantile hypercalcemia Hyperhidrosis Bronchiectasis Elevated sweat chloride Polyhydramnios Acute lymphoblastic leukemia Aspiration Lymphopenia Pancytopenia Decreased antibody level in blood Leukemia Anemia Pain Hypohidrotic ectodermal dysplasia Conical tooth Delayed eruption of teeth Polyarticular arthritis Joint swelling Respiratory tract infection Anhidrotic ectodermal dysplasia B lymphocytopenia Arthralgia Bronchomalacia Chills Immotile cilia Chronic bronchitis Recurrent pneumonia Sinusitis Abnormal lung morphology Cold urticaria Angioedema Allergic rhinitis Erythema Immune dysregulation Vitiligo Hashimoto thyroiditis Urticaria Syncope Asthma Pruritus Lymphadenitis


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