Congestive heart failure, and Acute myeloid leukemia

Diseases related with Congestive heart failure and Acute myeloid leukemia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Acute myeloid leukemia that can help you solving undiagnosed cases.


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High match DIAMOND-BLACKFAN ANEMIA 1; DBA1


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). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

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Other less relevant matches:

Low match POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME


POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match PAROXYSMAL NOCTURNAL HEMOGLOBINURIA


Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events.

PAROXYSMAL NOCTURNAL HEMOGLOBINURIA Is also known as marchiafava-micheli disease|pnh

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Dysphagia
  • Abdominal pain
  • Pallor


SOURCES: ORPHANET OMIM MENDELIAN

More info about PAROXYSMAL NOCTURNAL HEMOGLOBINURIA

Low match MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS


Monocytopenia with susceptibility to infections is a rare, genetic, primary immunodeficiency disorder characterized by profound circulating monocytopenia, B- and NK-cell lymphopenia and severe dentritic cell decrease, which manifests clinically with disseminated mycobacterial and viral infections, as well as opportunistic fungal and parasitic infections and frequent pulmonary alveolar proteinosis. Predisposition to developping myeloid neoplasms is associated.

MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS Is also known as dendritic cell, monocyte, b and nk lymphoid deficiency|dcml|dendritic cell, monocyte, b lymphocyte, and natural killer lymphocyte deficiency|monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia|monoc

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hypertension
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about MONOCYTOPENIA WITH SUSCEPTIBILITY TO INFECTIONS

Low match FAMILIAL THROMBOCYTOSIS


Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Acute myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Myelodysplasia Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Acute myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Neoplasm Headache Proptosis Aplastic anemia Myeloid leukemia Pancytopenia Splenomegaly Abnormal cardiac septum morphology Short stature Bone marrow hypocellularity Strabismus Hypertelorism Fatigue Spontaneous abortion Growth delay Micrognathia Failure to thrive Weight loss Cataract Hypogonadism Pulmonary arterial hypertension Hypoplastic anemia Abnormal bleeding High palate Neutropenia Vertigo Microcephaly Fever Global developmental delay Hearing impairment Thrombocytopenia Pallor Hepatomegaly Seizures Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Renal insufficiency Postnatal growth retardation Visual impairment Facial asymmetry Abnormality of the liver Epicanthus Hypertrophic cardiomyopathy Carcinoma Hypothyroidism Diabetes mellitus Patent ductus arteriosus Bruising susceptibility Ventriculomegaly Abnormality of cardiovascular system morphology Leukopenia Hypopigmentation of the skin Rod-cone dystrophy Peripheral neuropathy Myocardial infarction Multifocal epileptiform discharges Narrow face Chest pain Hypercoagulability Polyhydramnios Feeding difficulties Peripheral arterial stenosis Chronic myelogenous leukemia Abdominal pain Transient ischemic attack Lymphoma Sensorineural hearing impairment Lymphedema Venous thrombosis Abnormality of the testis Hypertension Abnormality of blood and blood-forming tissues Squamous cell carcinoma Cranial nerve paralysis Azoospermia Recurrent infections Hypergonadotropic hypogonadism Insulin resistance Ptosis Type I diabetes mellitus Cryptorchidism Coarctation of aorta Reticulocytopenia Anemia of inadequate production Osteosarcoma Thrombocytosis Absent thumb Triphalangeal thumb Abnormal facial shape Short thumb Webbed neck Partial duplication of thumb phalanx Premature birth Vomiting Edema Short neck Ventricular septal defect Downslanted palpebral fissures Intrauterine growth retardation Cleft palate Congenital hypoplastic anemia Pain Nystagmus Ataxia Arnold-Chiari type I malformation Alopecia of scalp Abnormality of the cerebral vasculature Renal neoplasm Loose anagen hair Meningioma Progeroid facial appearance Posterior subcapsular cataract Pectus excavatum of inferior sternum Pulmonary artery stenosis Neoplasm of the lung Subcapsular cataract Premature loss of teeth Panuveitis Prematurely aged appearance Ovarian neoplasm Secondary amenorrhea Scleroderma Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Gonadal neoplasm Juvenile myelomonocytic leukemia Chondrocalcinosis Lack of skin elasticity Soft tissue sarcoma Aplasia/Hypoplasia of the testes Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Neurofibromas Abnormal hair whorl Chorioretinitis Polyphagia Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Enlarged joints Thyroid carcinoma White forelock Neurofibrosarcoma Slender build Pili torti Decreased fertility High pitched voice Premature graying of hair Retinal degeneration Sparse scalp hair Abnormality of the coagulation cascade Type II diabetes mellitus Decreased testicular size Convex nasal ridge Leukocytosis Coma Small hand Nephropathy Retinopathy Abnormality of retinal pigmentation Joint stiffness Micropenis Hyperkeratosis Osteoporosis Preductal coarctation of the aorta Alopecia Behavioral abnormality Abnormality of the dentition Skeletal muscle atrophy Decreased body weight Skin ulcer Muscle weakness Nasogastric tube feeding Reduced factor XIII activity Polyuria Rocker bottom foot Abnormality of the thorax Polydipsia Abnormality of the voice Lipodystrophy Dermal atrophy Sarcoma Laryngomalacia Abnormality of the hair Breast carcinoma Melanoma Cubitus valgus Atherosclerosis Macular degeneration Radial deviation of finger Abnormality of color vision Hoarse voice Increased bone mineral density Acral lentiginous melanoma Dysphagia Bicuspid aortic valve Pectus excavatum Hypotrichosis Broad forehead Sparse hair Low-set, posteriorly rotated ears Kyphoscoliosis Gastroesophageal reflux Posteriorly rotated ears Constipation Clinodactyly Hernia Shield chest Synovitis Dilatation Intellectual disability, mild Abnormality of the vertebral column Cardiomyopathy Polyclonal elevation of IgM Schwannoma Multiple lentigines Asymmetry of the thorax Pterygium Neuroblastoma Brachydactyly Arnold-Chiari malformation Malignant hyperthermia Gonadal dysgenesis Plagiocephaly Amblyopia Drusen Nonimmune hydrops fetalis Left ventricular hypertrophy Clumsiness Primary amenorrhea Poor suck Pulmonic stenosis Low posterior hairline Ventricular hypertrophy Amenorrhea Wide intermamillary distance Dental malocclusion Abdominal distention Atrial flutter Triangular face High, narrow palate Restrictive cardiomyopathy Myopia Depressed nasal bridge Patent foramen ovale Cerebral artery stenosis Lymphopenia Amegakaryocytic thrombocytopenia Recurrent otitis media Nephrotic syndrome Otitis media Decreased antibody level in blood Pneumonia Immunodeficiency Superior pectus carinatum Elevated alkaline phosphatase Severe sensorineural hearing impairment Abnormal thrombosis Abnormal renal physiology Angina pectoris Cystic hygroma Pulmonary embolism Thromboembolism Reduced factor XII activity Failure to thrive in infancy Hemolytic anemia Hypoplastic aortic arch Lymphangioma Cognitive impairment Male infertility Low-set ears Arterial thrombosis Cerebral ischemia Visual field defect Syncope Optic disc hypoplasia Paresthesia Pruritus Hyperhidrosis Dysarthria Recurrent viral infections Abnormal natural killer cell morphology Recurrent mycobacterium avium complex infections Monocytopenia Chronic myelomonocytic leukemia Severe viral infections Alveolar proteinosis Panniculitis Recurrent fungal infections B lymphocytopenia Verrucae Hemoglobinuria Tented upper lip vermilion Cryoglobulinemia Abnormality of the genital system Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Horseshoe kidney Spina bifida Abnormal vertebral morphology Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Abnormality of the urinary system Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Abnormality of skin pigmentation Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Abnormality of vision Hyperinsulinemia Hip dislocation Abnormal eyelid morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Chromosome breakage Tracheoesophageal fistula Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Multiple cafe-au-lait spots Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Dolichocephaly Finger syndactyly Abnormal renal morphology Abnormal dermatoglyphics Increased mean corpuscular volume 11 pairs of ribs Hypoplastic ilia Macrocytic anemia Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Hypoplasia of the radius Hydrops fetalis Parietal foramina Depressed nasal ridge Nausea Cleft upper lip Nausea and vomiting Narrow chest Lethargy Cleft lip Retrognathia Glaucoma Flexion contracture Unilateral cleft lip Everted upper lip vermilion Small for gestational age Hydrocephalus Irritability Abnormality of the kidney Abnormality of the eye Pes planus Umbilical hernia Upslanted palpebral fissure Severe short stature Clinodactyly of the 5th finger Hypospadias Microphthalmia Respiratory distress Erythroid hypoplasia Abnormality of the skeletal system Frontal bossing Hyperreflexia Scoliosis Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Persistence of hemoglobin F Branchial cyst Abnormal aortic valve morphology Abnormal localization of kidney Impaired lymphocyte transformation with phytohemagglutinin Thick upper lip vermilion Stroke Autoimmunity Visual loss Diarrhea Respiratory insufficiency Hypovolemic shock Hyperplasia of midface Minimal subcutaneous fat Astrocytosis Large forehead Facial hypotonia Lymphadenopathy Megalencephaly Decreased muscle mass Diabetes insipidus Focal impaired awareness seizure Drooling Shock Nephrocalcinosis Increased body weight Open mouth Thick lower lip vermilion Malabsorption Polyneuropathy Focal-onset seizure Pulmonary infiltrates Monoclonal immunoglobulin M proteinemia Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Edema of the lower limbs Raynaud phenomenon Gingival bleeding Migraine Elevated erythrocyte sedimentation rate Cutis marmorata Pleural effusion Urticaria Purpura Vasculitis Anorexia Epistaxis Memory impairment Gastrointestinal hemorrhage Status epilepticus Highly arched eyebrow Abnormality of chromosome stability Chromosomal breakage induced by crosslinking agents Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Decreased fertility in males Abnormality of the preputium Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Pyridoxine-responsive sideroblastic anemia Arrhythmia Inability to walk Generalized hypotonia Long face Severe global developmental delay Wide mouth Joint laxity Difficulty walking High forehead Absent speech Macrocephaly Wide nasal bridge Muscular hypotonia Reduced activity of N-acetylglucosaminyltransferase II Jaundice Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Gout Reticulocytosis Prolonged neonatal jaundice Cholelithiasis Hyperbilirubinemia Cirrhosis Hepatosplenomegaly Postductal coarctation of the aorta



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