Anemia, and Atrial septal defect

Diseases related with Anemia and Atrial septal defect

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


Top matches:

Low match DIAMOND-BLACKFAN ANEMIA 16; DBA16


Related symptoms:

  • Anemia
  • Atrial septal defect
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 16; DBA16

Low match DIAMOND-BLACKFAN ANEMIA 4; DBA4


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD


HFASD is an autosomal dominant disorder with variable expressivity. Some patients may develop severe nonimmune lymphatic-related hydrops fetalis (LRHF) in utero, resulting in early death, whereas others may have milder manifestations, such as atrial septal defect (ASD) or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period (summary by Martin-Almedina et al., 2016).

Related symptoms:

  • Anemia
  • Respiratory distress
  • Atrial septal defect
  • Edema
  • Hernia


SOURCES: OMIM MENDELIAN

More info about HYDROPS FETALIS, NONIMMUNE, AND/OR ATRIAL SEPTAL DEFECT, SUSCEPTIBILITY TO; HFASD

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

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 FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

Low match HEREDITARY OROTIC ACIDURIA


Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Low match KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Low match LYMPHEDEMA, HEREDITARY, III; LMPH3


Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF ) (summary by Coelho et al., 2012).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblj|methylmalonic aciduria with homocystinuria, type cblj|cblj defects|cobalamin j defect

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLJ

Top 5 symptoms//phenotypes associated to Anemia and Atrial septal defect

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Neutropenia Uncommon - Between 30% and 50% cases
Ascites Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Atrial septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hydrops fetalis Hypertelorism Edema

Rare Symptoms - Less than 30% cases


Generalized hypotonia Feeding difficulties Microcephaly Epicanthus Ventricular septal defect Hemolytic anemia Splenomegaly Patent ductus arteriosus Hematuria Aciduria Cellulitis Micrognathia Gastroesophageal reflux Seizures Intellectual disability Immunodeficiency Facial edema Hernia Short stature Respiratory distress Pericardial effusion Pulmonic stenosis Varicose veins Nonimmune hydrops fetalis Lymphedema Bell-shaped thorax Microcytic anemia Hearing impairment Abnormality of skeletal morphology Peripheral arteriovenous fistula Internal hemorrhage Upper limb asymmetry Abnormal tricuspid valve morphology Abnormality of the menstrual cycle Abnormality of the pulmonary artery Venous insufficiency Lower limb asymmetry Hypercoagulability Abnormality of the skull Pulmonary embolism Abnormal facial shape Prolonged bleeding time Decreased methylcobalamin Hemangioma Venous thrombosis Tall stature Gastrointestinal hemorrhage Congestive heart failure Respiratory insufficiency Macrocephaly Hepatomegaly Decreased adenosylcobalamin Reduced orotidine 5-prime phosphate decarboxylase activity Pyrimidine-responsive megaloblastic anemia Orotic acid crystalluria Folate-unresponsive megaloblastic anemia Oroticaciduria Scoliosis Fever Tachypnea Prune belly Pulmonary arterial hypertension Coarctation of aorta Wide intermamillary distance Lethargy Inguinal hernia Thrombocytopenia Cerebral atrophy Hypertension Methylmalonic aciduria Cryptorchidism Homocystinuria Abnormal posturing Genital edema Pulmonary lymphangiectasia Intestinal lymphangiectasia Pectus excavatum Webbed neck Hyperhomocystinemia Hypothyroidism Polyhydramnios Poikilocytosis Methylmalonic acidemia Horizontal ribs Cupped ear Stomatocytosis Deep venous thrombosis Hydrocele testis Generalized edema Spherocytosis Periorbital edema Chylothorax Impaired T cell function Abnormality of the ureter Megaloblastic anemia Dilated cardiomyopathy Pulmonary edema Muscular hypotonia Cystic hygroma Delayed speech and language development Cardiomyopathy Vomiting Asthma Pulmonary insufficiency Dehydration Cardiomegaly Mild global developmental delay Decreased plasma carnitine Peripheral pulmonary artery stenosis Pyelonephritis Recurrent fungal infections Lymphoproliferative disorder Neoplasm Patent foramen ovale Peripheral edema Lymphoma Ventricular hypertrophy Inflammatory abnormality of the skin Lymphopenia Recurrent bacterial infections Combined immunodeficiency Verrucae Increased antibody level in blood Autoimmune hemolytic anemia Right ventricular hypertrophy Chronic mucocutaneous candidiasis B-cell lymphoma Recurrent viral infections Neonatal hyperbilirubinemia Congenital diaphragmatic hernia Anisocytosis Low-set, posteriorly rotated ears Erythroid hypoplasia Wide nasal bridge Downslanted palpebral fissures Reticulocytopenia Increased mean corpuscular volume Recurrent respiratory infections Abnormality of the liver Embryonal neoplasm Macrocytic anemia Hip dysplasia Meningitis Aminoaciduria Lymphadenopathy Abnormal toenail morphology Chromosomal breakage induced by crosslinking agents Medulloblastoma Short neck Cafe-au-lait spot Abnormality of cardiovascular system morphology Postnatal growth retardation Small for gestational age Leukemia Anal atresia Short thumb Hyperpigmentation of the skin Acute monocytic leukemia Bone marrow hypocellularity Nephroblastoma Acute myeloid leukemia Neuroblastoma Chromosome breakage Aplastic anemia Decreased methionine synthase activity



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