Edema, and Myeloid leukemia

Diseases related with Edema and Myeloid leukemia

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

Top matches:

Low match EWING SARCOMA

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Other less relevant matches:

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

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

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

Top 5 symptoms//phenotypes associated to Edema and Myeloid leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Neoplasm Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Webbed neck Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Myeloid leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Growth delay Myelodysplasia Intellectual disability Global developmental delay Depressed nasal bridge Hypertelorism Cryptorchidism Sensorineural hearing impairment Downslanted palpebral fissures Strabismus Lymphedema Thrombocytopenia Fever Failure to thrive in infancy Cardiomyopathy Vomiting Poor suck Generalized hypotonia Leukocytosis Ptosis Low-set ears Delayed speech and language development Motor delay Atrial septal defect Myopia Short neck Intellectual disability, mild Abnormal facial shape Abnormal heart morphology High palate Sparse hair Broad forehead Pulmonic stenosis Weight loss Micrognathia Failure to thrive Microcephaly Bruising susceptibility Juvenile myelomonocytic leukemia Congestive heart failure Cognitive impairment Splenomegaly Hypertension Bone marrow hypocellularity Pain Acute myeloid leukemia Bicuspid aortic valve Hearing impairment Feeding difficulties Pancytopenia

Rare Symptoms - Less than 30% cases

Tapered finger Erysipelas Pallor Hypermetropia Respiratory failure Aortic valve stenosis Nausea and vomiting Hip dysplasia Wide intermamillary distance Esotropia Abnormal bleeding Recurrent respiratory infections Cubitus valgus Intrauterine growth retardation Ventricular septal defect Low posterior hairline Clumsiness Radial deviation of finger Clinodactyly Hydrops fetalis Coarctation of aorta Abnormal cardiac septum morphology Myopathy Abnormality of cardiovascular system morphology Seizures Nystagmus Pectus excavatum Posteriorly rotated ears Hypogonadism Postnatal growth retardation Reduced factor XII activity Prominent forehead Polyhydramnios Gastroesophageal reflux Amenorrhea Primary amenorrhea Low-set, posteriorly rotated ears Decreased muscle mass Muscular hypotonia Dilatation Triangular face Syndactyly Bilateral ptosis Neuroblastoma Lymphoma Immunodeficiency Recurrent infections Neutropenia Spontaneous abortion Leukopenia Aplastic anemia Verrucae Macrocephaly High forehead Hypertrophic cardiomyopathy Growth hormone deficiency Cafe-au-lait spot Pleural effusion Asymmetry of the thorax Fatigue Gonadal neoplasm Scoliosis Postductal coarctation of the aorta Narrow palm Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Loose anagen hair Pectus excavatum of inferior sternum Ventriculomegaly Panuveitis Hypopnea Neurofibrosarcoma Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Talipes equinovarus Poor fine motor coordination Optic disc hypoplasia Hyperactivity Thin upper lip vermilion Osteopenia Hypoplastic labia minora Psychotic episodes Narrow mouth Autism Micropenis Diabetes mellitus Intellectual disability, severe Upslanted palpebral fissure Osteoporosis Hyporeflexia Obesity Short nose Kyphosis Behavioral abnormality Abnormality of the dentition Lymphangioma Multiple lentigines Central adrenal insufficiency Ventricular hypertrophy Arnold-Chiari malformation Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Paraplegia Almond-shaped palpebral fissure Sarcoma Elevated alkaline phosphatase Dental malocclusion Abdominal distention High, narrow palate Poor gross motor coordination Facial asymmetry Hypotrichosis Kyphoscoliosis Pterygium Patent foramen ovale Schwannoma Arnold-Chiari type I malformation Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Paralysis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Photophobia Neonatal hypotonia Hypoglycemia Skeletal muscle hypertrophy Striae distensae Impaired pain sensation Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Albinism Pulmonary embolism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Hyperinsulinemia Precocious puberty Nasal speech Triangular mouth Disseminated intravascular coagulation Scrotal hypoplasia Oligomenorrhea Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Overweight Hypopigmentation of hair Central hypotonia Abnormality of lipid metabolism Anteverted ears Iris hypopigmentation Clitoral hypoplasia Frontal upsweep of hair Hypoventilation Infantile muscular hypotonia Sleep apnea Abdominal obesity Pruritus Short palm Polymicrogyria Arachnodactyly Infertility Genu valgum Delayed puberty Carious teeth Proptosis Small hand Stroke Attention deficit hyperactivity disorder Respiratory tract infection Abnormality of the pinna Apnea Abnormality of the nervous system Temperature instability Downturned corners of mouth Short foot Narrow palpebral fissure Decreased fetal movement Hypogonadotrophic hypogonadism Increased body weight Bradycardia Insulin resistance Cutaneous photosensitivity Psychosis Type II diabetes mellitus Oligohydramnios Sleep disturbance Narrow forehead Abnormality of the cardiovascular system Specific learning disability Febrile seizures Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Dolichocephaly Headache Abdominal pain Triphalangeal thumb Thrombocytosis Macrocytic anemia Absent thumb Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Osteosarcoma Hypoplasia of the radius Abnormal dermatoglyphics Severe viral infections Short thumb Depressed nasal ridge Chronic myelomonocytic leukemia Premature birth Hypoplastic ilia 11 pairs of ribs Cleft upper lip Branchial cyst Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Erythroid hypoplasia Increased mean corpuscular volume Partial duplication of thumb phalanx Everted upper lip vermilion Congenital hypoplastic anemia Parietal foramina Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Nausea Narrow chest Panniculitis Cirrhosis Chronic otitis media Intracranial hemorrhage Hypotelorism Migraine Broad neck Hematuria Hemolytic anemia Lymphadenopathy Cellulitis Vertigo Long eyebrows Neurological speech impairment Scarring Hepatomegaly Respiratory insufficiency Visual loss Prolonged bleeding time Acute leukemia Lethargy Hyperkeratosis Monocytopenia Cleft lip Retrognathia Glaucoma Recurrent mycobacterium avium complex infections Abnormal natural killer cell morphology Wide nasal bridge Flexion contracture Hypercoagulability Cleft palate Relative macrocephaly Abnormal neutrophil count Macronodular cirrhosis Curly hair Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Alveolar proteinosis Recurrent fungal infections Rod-cone dystrophy Facial hypotonia Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Hydrocele testis Abnormal eyebrow morphology Monocytosis Neurodevelopmental delay Primitive neuroectodermal tumor Proximal placement of thumb Overfolded helix Ewing sarcoma Abnormality of the thorax Peripheral neuroepithelioma Broad toe Pulmonary lymphangiectasia Neoplasm of the peripheral nervous system Meningioma Constipation Patent ductus arteriosus Hernia Acute lymphoblastic leukemia Cerebellar atrophy Brachydactyly Cataract Chronic myelogenous leukemia Arteritis Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Burkitt lymphoma Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Cholelithiasis Deep philtrum B lymphocytopenia Severe sensorineural hearing impairment Recurrent otitis media Feeding difficulties in infancy Lymphopenia Joint laxity Hepatosplenomegaly Macrotia Venous thrombosis Inguinal hernia Pulmonary arterial hypertension Recurrent viral infections Long philtrum Respiratory distress Anteverted nares Frontal bossing Gait disturbance Optic atrophy Pectus carinatum Abnormality of the foot Torticollis Cyanosis Vasculitis Bilateral single transverse palmar creases Hyperpigmentation of the skin Mitral regurgitation Fine hair Pneumonia Epistaxis Hypothyroidism Astigmatism Decreased antibody level in blood Otitis media Nephrotic syndrome Ascites Highly arched eyebrow Thick vermilion border Falls Joint hypermobility Acromicria


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