Anemia, and Hodgkin lymphoma

Diseases related with Anemia and Hodgkin lymphoma

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


Top matches:

Medium match BLOOD GROUP, MN; MN


MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. 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. Antigens of the Ss blood group (OMIM ) reside on GYPB, and 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 or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. 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, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

Medium 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

Medium match B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA


B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium match ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY


G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

Medium match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


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

Medium match AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME


Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


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

Medium match DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3


Dyskeratosis congenita is an inherited bone marrow failure syndrome classically characterized by the triad of mucosal leukoplakia, nail dysplasia, and abnormal skin pigmentation. Affected individuals have an increased risk of aplastic anemia and malignancy. Less common features include epiphora, premature gray hair, microcephaly, developmental delay, and pulmonary fibrosis, among others. The phenotype is highly variable. All affected individuals have shortened telomeres due to a defect in telomere maintenance (summary by Savage et al., 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DCKA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3

Medium match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Hodgkin lymphoma

Symptoms // Phenotype % cases
Lymphoma Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Anemia and Hodgkin lymphoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Splenomegaly Hemolytic anemia Leukemia Pneumonia Decreased antibody level in blood Pancytopenia Fever Hepatosplenomegaly Autoimmune hemolytic anemia Lymphocytosis Autoimmunity IgG deficiency Hepatomegaly Lymphopenia B-cell lymphoma Lymphoproliferative disorder Bronchiectasis

Rare Symptoms - Less than 30% cases


Dysgammaglobulinemia Intrauterine growth retardation Sinusitis Squamous cell carcinoma Histiocytosis Papilloma Increased antibody level in blood Granulomatosis Recurrent respiratory infections Global developmental delay Meningitis Seizures Short stature Immune dysregulation Otitis media Carcinoma Microcephaly Aplastic anemia Vasculitis Bone marrow hypocellularity Growth delay Increased IgM level Cryptorchidism Acute leukemia Chronic lymphatic leukemia Cellular immunodeficiency Pulmonary fibrosis Non-Hodgkin lymphoma Oral leukoplakia Interstitial pulmonary abnormality Aseptic necrosis Esophageal stricture Diarrhea Phimosis Reticulated skin pigmentation Pulmonary hemorrhage Failure to thrive Micrognathia Cardiomyopathy Abnormality of the dentition Premature graying of hair Cerebellar hypoplasia Epiphora Retinopathy Reduced natural killer cell activity Fulminant hepatitis Hearing impairment Ataxia Delayed speech and language development Hypertension Alopecia Osteoporosis Osteopenia Nail dystrophy Portal hypertension Dry skin Abnormality of skin pigmentation Gastrointestinal hemorrhage Nail dysplasia Cerebral calcification Fine hair Abnormal lung morphology Hyperpigmentation of the skin Leukopenia Abnormal intestine morphology Intellectual disability, mild Erythema Short nose Hypoplastic pelvis Hypopigmented skin patches Reduced number of teeth Hand polydactyly High pitched voice Telangiectasia of the skin Myeloid leukemia Acute myeloid leukemia IgA deficiency Hypoplasia of the zygomatic bone Chromosome breakage Chronic lung disease Azoospermia Chronic obstructive pulmonary disease Abnormality of the nose IgM deficiency Abnormality of chromosome stability Decreased fertility in females Female infertility Spotty hypopigmentation Spotty hyperpigmentation Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Sacral dimple Narrow face Malar flattening Skin rash Syndactyly Delayed skeletal maturation Clinodactyly of the 5th finger Severe short stature Hyperhidrosis Diabetes mellitus Polydactyly Postnatal growth retardation Protruding ear Burkitt lymphoma Finger syndactyly Cafe-au-lait spot Dolichocephaly Infertility Ichthyosis Prominent nose Abnormality of the skin Specific learning disability Type II diabetes mellitus Cutaneous photosensitivity Hypertrichosis Abnormality of the face Telangiectasia Pharyngitis Coombs-positive hemolytic anemia Hepatic necrosis Anisocytosis Pallor Cirrhosis Abnormality of the cardiovascular system Hyperbilirubinemia Back pain Leukocytosis Osteomyelitis Prolonged neonatal jaundice Reticulocytosis Poikilocytosis Jaundice Hemoglobinuria Nonspherocytic hemolytic anemia Unconjugated hyperbilirubinemia Kernicterus Fava bean-induced hemolytic anemia Ascites Pleural effusion Elevated erythrocyte sedimentation rate Pericardial effusion Myalgia Fatigue Stomatitis Hyperthyroidism Hyperactivity Respiratory tract infection Attention deficit hyperactivity disorder Recurrent sinopulmonary infections Decreased proportion of CD4-positive T cells Arthritis Neurodegeneration Systemic lupus erythematosus Rheumatoid arthritis Lung adenocarcinoma Pain Inflammatory abnormality of the skin Recurrent otitis media Psoriasiform dermatitis Recurrent sinusitis Bronchiolitis Bronchiolitis obliterans Opportunistic infection Bronchiolitis obliterans organizing pneumonia Intellectual disability Muscle weakness Pulmonary infiltrates Recurrent aphthous stomatitis Pure red cell aplasia Dilatation Cervical lymphadenopathy Rheumatoid factor positive Platelet antibody positive Decreased lymphocyte apoptosis Antineutrophil antibody positivity Smooth muscle antibody positivity Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Increased proportion of HLA DR+ T cells Intermediate uveitis Respiratory failure Reduced delayed hypersensitivity Falls Hepatic failure Memory impairment Hemiparesis Encephalitis Sarcoma Agammaglobulinemia Recurrent pharyngitis Hepatic encephalopathy Chorioretinitis Increased IgG level Autoimmune neutropenia Hemophagocytosis Basal cell carcinoma Generalized lymphadenopathy Edema Renal insufficiency Hepatitis Purpura Eosinophilia Urticaria Glomerulonephritis Petechiae Iron deficiency anemia Follicular hyperplasia Autoimmune thrombocytopenia Uveitis Hepatocellular carcinoma Antinuclear antibody positivity Multiple myeloma Generalized edema Extramedullary hematopoiesis Chronic noninfectious lymphadenopathy Increased IgA level Antiphospholipid antibody positivity Facial telangiectasia in butterfly midface distribution



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Micropenis, related diseases and genetic alterations Ventricular septal defect and Retinoblastoma, related diseases and genetic alterations Congestive heart failure and Astigmatism, related diseases and genetic alterations Peripheral neuropathy and Vesicoureteral reflux, related diseases and genetic alterations Abnormal facial shape and Abnormality of the ribs, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more