Anemia, and Pneumonia

Diseases related with Anemia and Pneumonia

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


Top matches:

Medium 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 X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA


X-linked dyserythropoietic anemia with abnormal platelets and neutropenia is a rare, genetic, constitutional dyserythropoietic anemia disorder characterized by moderate to severe anemia without thrombocytopenia, variable degrees of neutropenia, and bone marrow biopsy findings of trilineage dysplasia and hypocellularity of erythroid and granulocytic lineages. Peripheral blood findings include anisocytosis, macrocytosis, poikilocytosis, elliptocytes, and fragmented erythrocytes.

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Pneumonia
  • Neutropenia
  • Macrocytic anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED DYSERYTHROPOIETIC ANEMIA WITH ABNORMAL PLATELETS AND NEUTROPENIA

Low match IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA


IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Pneumonia
  • Hemolytic anemia
  • Sepsis


SOURCES: OMIM MESH MENDELIAN

More info about IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA

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Other less relevant matches:

Low match HEMOGLOBIN H DISEASE; HBH


Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.

HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type|hemoglobin h disease, deletional

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOGLOBIN H DISEASE; HBH

Low match PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1


Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., {127750}), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by Armanios, 2009).The genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation (Parry et al., 2011). Genetic Heterogeneity of Telomere-Related Pulmonary Fibrosis and/or Bone Marrow FailureAlso see PFBMFT2 (OMIM ), caused by mutation in the TERC gene (OMIM ) on chromosome 3q26; PFBMFT3 (OMIM ), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13; and PFBMFT4 (OMIM ), caused by mutation in the PARN gene (OMIM ) on chromosome 16p13.

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Pneumonia
  • Dyspnea


SOURCES: OMIM MENDELIAN

More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

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 KARYOMEGALIC INTERSTITIAL NEPHRITIS


Karyomegalic interstitial nephritis is a rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei.

KARYOMEGALIC INTERSTITIAL NEPHRITIS Is also known as kin|systemic karyomegaly

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KARYOMEGALIC INTERSTITIAL NEPHRITIS

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 CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

Low match RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY


Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by Witzel et al., 2017).For a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM ).

RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY Is also known as neutrophil-specific granule deficiency

Related symptoms:

  • Global developmental delay
  • Anemia
  • Abnormality of the skeletal system
  • Diarrhea
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about RECURRENT INFECTION DUE TO SPECIFIC GRANULE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Pneumonia

Symptoms // Phenotype % cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Myelodysplasia

Rare Symptoms - Less than 30% cases


Cirrhosis Microcytic anemia Jaundice Immunodeficiency Recurrent otitis media Autoimmune hemolytic anemia Neoplasm Carcinoma Splenomegaly Abnormality of the cardiovascular system Hepatomegaly Abnormality of the liver Tubulointerstitial nephritis Pain Elevated serum creatinine Tubular atrophy Normocytic anemia Increased blood urea nitrogen Glycosuria Hematuria Nephronophthisis Nephritis Chronic kidney disease Cholestasis Chronic tubulointerstitial nephritis Stage 5 chronic kidney disease Respiratory tract infection Abnormality of the kidney Proteinuria Elevated hepatic transaminase Renal insufficiency Bronchiolitis obliterans organizing pneumonia Opportunistic infection Bronchiolitis obliterans Mild proteinuria Abnormal bleeding Depressivity Scarring Fragile nails Recurrent bacterial infections Chronic diarrhea Nail dysplasia Abnormality of the pinna Diarrhea Abnormality of the skeletal system Global developmental delay Atransferrinemia Hypochromic anemia Hypochromic microcytic anemia Abnormality of the pancreas Pallor Hyperhidrosis Arthritis Hypothyroidism Congestive heart failure Fatigue Growth delay Trimethylaminuria Fish odor Body odor Alzheimer disease Recurrent pneumonia Bronchiolitis Tachycardia Anxiety Papilloma Otitis media Hodgkin lymphoma Abnormal granulocytopoietic cell morphology Edema Cognitive impairment Recurrent mycobacterium avium complex infections Impaired memory B cell generation Increased IgM level IgG deficiency IgA deficiency Bronchiectasis Ectodermal dysplasia Sepsis Abnormality of reticulocytes Abnormal platelet morphology Hydrops fetalis Abnormal erythrocyte morphology Increased hemoglobin Erythroid hypoplasia Elliptocytosis Poikilocytosis Impaired platelet aggregation Abnormal thrombocyte morphology Anisocytosis Macrocytic anemia Heart murmur Delayed puberty Stroke Hepatosplenomegaly Cholelithiasis Recurrent sinusitis Premature graying of hair Squamous cell carcinoma Psoriasiform dermatitis Lymphopenia Sinusitis Inflammatory abnormality of the skin Lymphoma Acute monocytic leukemia Aplastic anemia Acute myeloid leukemia Myeloid leukemia Interstitial pulmonary abnormality Pulmonary fibrosis Abnormality of immune system physiology Bone marrow hypocellularity Hepatic fibrosis Abnormal lung morphology Pancytopenia Leukemia Cough Dyspnea Hemoglobin H Reduced alpha/beta synthesis ratio Hypersplenism Abnormal hemoglobin Decreased mean corpuscular volume Myelofibrosis



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