Anemia, and Recurrent respiratory infections

Diseases related with Anemia and Recurrent respiratory infections

In the following list you will find some of the most common rare diseases related to Anemia and Recurrent respiratory infections that can help you solving undiagnosed cases.


Top matches:

Low match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY


SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY


Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

Low match X-LINKED HYPER-IGM SYNDROME


Hyper-IgM syndrome is a condition characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process (summary by Imai et al., 2003).For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (OMIM ).

X-LINKED HYPER-IGM SYNDROME Is also known as hyper-igm syndrome 4|hyper-igm syndrome type 1|hyper-igm syndrome due to cd40l deficiency|higm1|xhigm|hyper-igm syndrome due to cd40 ligand deficiency

Related symptoms:

  • Immunodeficiency
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent upper respiratory tract infections
  • Myelodysplasia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED HYPER-IGM SYNDROME

Low match IDIOPATHIC CD4 LYMPHOCYTOPENIA


Idiopathic CD4 lymphocytopenia is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/µL on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed.

IDIOPATHIC CD4 LYMPHOCYTOPENIA Is also known as icl|idiopathic cd4 lymphopenia

Related symptoms:

  • Neoplasm
  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC CD4 LYMPHOCYTOPENIA

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match TRIMETHYLAMINURIA; TMAU


Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).

TRIMETHYLAMINURIA; TMAU Is also known as fish-odor syndrome

Related symptoms:

  • Anemia
  • Hypertension
  • Splenomegaly
  • Depressivity
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about TRIMETHYLAMINURIA; TMAU

Low match COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY


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

Low match MALT LYMPHOMA


MALT (mucosa-associated lymphoid tissue) lymphoma is a rare form of malignant non-Hodgkin lymphoma (see this term) that affects B cells and grows at the expense of lymphoid tissue associated with mucous membranes, but also occurs, more rarely, in lymph nodes.

MALT LYMPHOMA Is also known as maltoma|mucosa-associated lymphatic tissue lymphoma|extranodal marginal zone b-cell lymphoma|mucosa-associated lymphoid tissue lymphoma

Related symptoms:

  • Anemia
  • Visual impairment
  • Fever
  • Fatigue
  • Constipation


SOURCES: ORPHANET MENDELIAN

More info about MALT LYMPHOMA

Top 5 symptoms//phenotypes associated to Anemia and Recurrent respiratory infections

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Autoimmune hemolytic anemia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Lymphoma Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent sinopulmonary infections Lymphopenia

Rare Symptoms - Less than 30% cases


Recurrent otitis media Autoimmunity Failure to thrive Papilloma Neutropenia B-cell lymphoma Bronchiectasis Hodgkin lymphoma Lymphadenopathy Inflammation of the large intestine Decreased antibody level in blood Hyperhidrosis Neoplasm Bronchiolitis Bronchiolitis obliterans Thrombocytopenia Pneumonia Hypertension Abnormality of the cardiovascular system Alzheimer disease Body odor Recurrent pneumonia Pain Abnormal bleeding Trimethylaminuria Tachycardia Anxiety Depressivity Splenomegaly Dysgammaglobulinemia Chronic obstructive pulmonary disease IgA deficiency Fish odor Intermittent thrombocytopenia Diarrhea Constipation Abnormal nasolacrimal system morphology Mediastinal lymphadenopathy Pulmonary infiltrates Abnormality of the thyroid gland Nausea and vomiting Weight loss Abdominal pain Fatigue Sepsis Fever Visual impairment Chronic oral candidiasis Agammaglobulinemia Conjunctivitis Meningitis Chronic diarrhea Recurrent skin infections Impaired Ig class switch recombination Alopecia Attention deficit hyperactivity disorder Combined immunodeficiency Abnormal intestine morphology Eczema Malabsorption Decreased proportion of CD4-positive T cells Lymphoproliferative disorder Respiratory tract infection Decrease in T cell count Hyperactivity Global developmental delay Seizures Heart murmur Delayed puberty Stroke Jaundice Severe combined immunodeficiency Decreased proportion of CD8-positive T cells Bronchiolitis obliterans organizing pneumonia Otitis media Opportunistic infection Recurrent sinusitis Squamous cell carcinoma Psoriasiform dermatitis Sinusitis Inflammatory abnormality of the skin Carcinoma Recurrent gastroenteritis Absence of lymph node germinal center Recurrent infection of the gastrointestinal tract Autoimmune thrombocytopenia Osteomyelitis Myelodysplasia Recurrent upper respiratory tract infections Recurrent bacterial infections Posterior uveitis



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