Anemia, and Asthma

Diseases related with Anemia and Asthma

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


Top matches:

Low match DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME


Familial myeloproliferative/lymphoproliferative neoplasms is an autosomal dominant cancer predisposition syndrome characterized by adult-onset of hematologic malignancies mainly affecting the myeloid line. Most patients present with myelodysplastic syndrome (MDS ) and/or acute myeloid leukemia (AML ). Rare lymphoid malignancies, including lymphoma, can also occur. Some mutation carriers, even if unaffected by a hematologic malignancy, may have evidence of immune dysregulation disorders, including asthma, eczema, or juvenile arthritis. The disorder shows incomplete penetrance (summary by Lewinsohn et al., 2016). Patients may show a favorable response to treatment with lenalidomide (summary by Polprasert et al., 2015).

Related symptoms:

  • Neoplasm
  • Anemia
  • Arthritis
  • Leukemia
  • Asthma


SOURCES: ORPHANET OMIM MENDELIAN

More info about DDX41-RELATED HEMATOLOGIC MALIGNANCY PREDISPOSITION SYNDROME

Low match ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY


Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency|acad8 deficiency|acyl-coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY

Low match PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME


This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY


Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction (see this term) characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.

COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY Is also known as cid due to stim1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 2|stim1 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Anemia
  • Myopathy
  • Diarrhea


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STIM1 DEFICIENCY

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match MASTOCYTOSIS, CUTANEOUS; MASTC


Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010).

MASTOCYTOSIS, CUTANEOUS; MASTC Is also known as mastocytosis, maculopapular cutaneous|mastocytosis, diffuse cutaneous|urticaria pigmentosa

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASTOCYTOSIS, CUTANEOUS; MASTC

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Anemia and Asthma

Symptoms // Phenotype % cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Immunodeficiency Diarrhea Eczema Erythema Lymphadenopathy Neoplasm Skin rash Combined immunodeficiency Inflammatory abnormality of the skin Recurrent lower respiratory tract infections Recurrent bacterial infections Hemolytic anemia Autoimmune hemolytic anemia Thrombocytopenia Leukopenia Generalized hypotonia Seizures

Rare Symptoms - Less than 30% cases


Neutropenia Vasculitis Lymphopenia Recurrent skin infections Meningitis Sinusitis Recurrent otitis media Allergy Respiratory tract infection Episodic fever Sarcoma Recurrent pneumonia Nephrotic syndrome Recurrent respiratory infections Abnormality of the skeletal system Abnormal facial shape Abnormality of the kidney Severe combined immunodeficiency Pericarditis Atopic dermatitis Arrhythmia Nausea and vomiting Malabsorption Nausea Myalgia Arthralgia Gastroesophageal reflux Abdominal pain Cirrhosis Recurrent viral infections Edema Purpura Hypertension Pain Anaphylactic shock Recurrent fungal infections Ascites Telangiectasia Headache Eosinophilia Autoimmunity Malnutrition Arthritis Leukemia Lymphoma Bone marrow hypocellularity Systemic lupus erythematosus Pneumonia Atrial septal defect Muscular hypotonia Anemia of inadequate production Allergic rhinitis Abnormality of humoral immunity Myoclonus Conductive hearing impairment Abnormality of the nervous system Reduced red cell adenosine deaminase activity Stiff neck Anti-thyroid peroxidase antibody positivity Sensory impairment Lack of T cell function Bronchiectasis Severe B lymphocytopenia Narrow palpebral fissure Hyporeflexia Glomerulonephritis Absent tonsils Membranoproliferative glomerulonephritis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Absence of lymph node germinal center Fever Renal insufficiency Constipation Pleuritis Gastrointestinal infarctions Immunoglobulin IgG2 deficiency Erysipelas Deep philtrum Poor suck Patent foramen ovale Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Brachydactyly Abnormality of glutamine metabolism Intellectual disability Short stature Hearing impairment Scoliosis Congenital hypoplastic anemia Ataxia Sensorineural hearing impairment Cognitive impairment High palate Dysarthria Acidosis Proteinuria Decreased circulating aldosterone level Platyspondyly Inflammation of the large intestine Leukocytosis Leukoencephalopathy Hyperkalemia Chronic diarrhea Elevated erythrocyte sedimentation rate Amyloidosis Hepatitis Situs inversus totalis Sepsis Increased serum ferritin Intestinal obstruction Orchitis Synovitis Gout Antinuclear antibody positivity Edema of the lower limbs Acute hepatic failure Recurrent meningitis Oral leukoplakia Peritonitis Serositis Azotemia Recurrent upper respiratory tract infections Abnormality of pelvic girdle bone morphology Stage 5 chronic kidney disease Osteoarthritis Recurrent opportunistic infections Cortical sclerosis Nephropathy Renal amyloidosis Aplasia of the thymus Chest pain Myocardial infarction Anterior rib cupping Diffuse mesangial sclerosis B lymphocytopenia Decrease in T cell count Rheumatoid arthritis Nephrocalcinosis Pulmonary insufficiency Increased IgE level Cellular immunodeficiency IgM deficiency Verrucae B-cell lymphoma Autoimmune thrombocytopenia Pancreatitis Chronic kidney disease IgA deficiency Cutis laxa Gastrointestinal stroma tumor Hydrops fetalis Abnormality of dental enamel Hyperostosis Abnormality of the coagulation cascade Steatorrhea Rhinitis Exocrine pancreatic insufficiency Erythroid hyperplasia Calvarial hyperostosis Myopathy Nail dysplasia Hypoplasia of dental enamel Hypohidrosis Anhidrosis Hyperbilirubinemia Hypoplasia of the iris Amelogenesis imperfecta Intermittent diarrhea Abnormality of the dentition Coarse facial features Otitis media Abnormal lung morphology Hemiplegia Osteomyelitis Increased antibody level in blood Recurrent sinusitis Subarachnoid hemorrhage Scaling skin Carious teeth Recurrent sinopulmonary infections Delayed speech and language development Melanoma Myelodysplasia Myeloid leukemia Acute myeloid leukemia Immune dysregulation Acute monocytic leukemia Refractory anemia Monocytosis Chronic myelomonocytic leukemia Erythroid dysplasia Feeding difficulties Cardiomyopathy Jaundice Vomiting Dilated cardiomyopathy Pulmonic stenosis Dehydration Cardiomegaly Mild global developmental delay Decreased plasma carnitine Peripheral pulmonary artery stenosis Pyelonephritis Neonatal hyperbilirubinemia Delayed skeletal maturation Osteopenia Esophagitis Cerebral vasculitis Decreased liver function Patent ductus arteriosus Abnormality of the gastric mucosa Mastocytosis Dermatographic urticaria Cutaneous mastocytosis Chronic leukemia Telangiectasia macularis eruptiva perstans Growth delay Low-set ears Depressed nasal bridge Intrauterine growth retardation Ventricular septal defect Hydronephrosis Abnormal eosinophil morphology Wide mouth Short philtrum Small for gestational age Synophrys Thin vermilion border Triangular face Abnormal bleeding Oligohydramnios Coarctation of aorta Pancytopenia Hepatic fibrosis Wide anterior fontanel Food intolerance Impaired temperature sensation Recurrent upper and lower respiratory tract infections Bone pain Fatigue Osteoporosis Weight loss Papule Pruritus Ichthyosis Tachycardia Recurrent fractures Sudden cardiac death Gastrointestinal hemorrhage Hypotension Abnormal blistering of the skin Osteolysis Asthenia Shock Urticaria Portal hypertension Loss of consciousness Hypermelanotic macule Abnormality of blood and blood-forming tissues Acute leukemia Flushing Generalized osteosclerosis Myeloproliferative disorder Hypersplenism Immunologic hypersensitivity Absent specific antibody response



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