Lymphoma, and Chronic myelogenous leukemia

Diseases related with Lymphoma and Chronic myelogenous leukemia

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

Top matches:

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

Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia).

SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE Is also known as systemic mastocytosis with associated hematologic neoplasm|sm-ahnmd|sm-ahn

Related symptoms:

  • Eosinophilia
  • Myelodysplasia
  • Acute myeloid leukemia
  • Chronic myelogenous leukemia
  • Non-Hodgkin lymphoma


SOURCES: ORPHANET MENDELIAN

More info about SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE

Medium 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

Other less relevant matches:

Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Medium match NON-HODGKIN LYMPHOMA

Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.

NON-HODGKIN LYMPHOMA Is also known as nhl|non-hodgkin lymphoma

Related symptoms:

  • Neoplasm
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • B-cell lymphoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about NON-HODGKIN LYMPHOMA

Carboxylesterase-1 (OMIM ) is a widely expressed serine esterase that is involved in the hydrolysis of multiple amide-containing and ester-containing endogenous and xenobiotic compounds including therapeutic agents such as methylphenidate, oseltamivir, angiotensin-converting enzyme inhibitors (e.g., trandolapril and temocapril), and anticancer drugs (e.g., capecitabin). In addition, CES1 is the primary enzyme responsible for metabolizing clopidogrel and its derivatives (summary by Lewis et al., 2013).

Related symptoms:

  • Hyperactivity
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • Chronic lymphatic leukemia


SOURCES: OMIM MENDELIAN

More info about DRUG METABOLISM, ALTERED, CES1-RELATED

B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma (see this term), and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia (see these terms). The clinical course is extremely heterogeneous with survival ranging from a few months to several decades.

B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA Is also known as b-cll|small lymphocytic lymphoma|b-cell chronic lymphoid leukemia|leukemia, chronic lymphatic

Related symptoms:

  • Neoplasm
  • Anemia
  • Splenomegaly
  • Recurrent infections
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about B-CELL CHRONIC LYMPHOCYTIC LEUKEMIA

Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Top 5 symptoms//phenotypes associated to Lymphoma and Chronic myelogenous leukemia

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Neoplasm Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Chronic lymphatic leukemia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Chronic myelogenous leukemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain Short stature Non-Hodgkin lymphoma Hodgkin lymphoma Myeloid leukemia B-cell lymphoma Lymphoproliferative disorder Weight loss Intellectual disability

Rare Symptoms - Less than 30% cases

Peripheral neuropathy Cafe-au-lait spot Tibial bowing Breast carcinoma Flexion contracture Dysarthria Recurrent infections Delayed speech and language development Cellular immunodeficiency Hyperactivity T-cell lymphoma Hypertension Brachydactyly Macrocephaly Abnormality of the skeletal system Hydrocephalus Arthralgia Overgrowth Osteoarthritis Back pain Cognitive impairment Multiple cafe-au-lait spots Meningioma Paralysis Neuroblastoma Sarcoma Acute lymphoblastic leukemia Seizures Cardiomyopathy Blindness Behavioral abnormality Intellectual disability, mild Headache Abnormal heart morphology Dilatation Respiratory insufficiency Abnormality of cardiovascular system morphology Polydactyly Adducted thumb Depressivity Pectus excavatum Visual loss Postaxial polydactyly Osteoporosis Lung adenocarcinoma Pulmonic stenosis Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Facial asymmetry Genu valgum Malabsorption Pruritus Glaucoma Attention deficit hyperactivity disorder Autistic behavior Hypertrophic cardiomyopathy Hypoglycemia Osteopenia Kyphoscoliosis Autism Visual impairment Abnormal facial shape Ptosis Communicating hydrocephalus Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Generalized joint laxity Abnormality of digit Osteopetrosis Patellar dislocation Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Myelopathy Recurrent ear infections Hypertelorism Small foramen magnum Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Iritis Thoracolumbar kyphosis Mild short stature Cervical cord compression Hypopnea Obstructive lung disease Broad hallux Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Gastrointestinal hemorrhage Splenomegaly Thrombocytopenia Gastrointestinal stroma tumor Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Neoplasm of the central nervous system Renovascular hypertension Lisch nodules Renal phosphate wasting Schwannoma Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Renal artery stenosis Axillary freckling Night sweats Spinal neurofibromas Arthritis Autoimmunity Lymphadenopathy Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Inguinal freckling Embryonal rhabdomyosarcoma Neurodegeneration Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Vestibular Schwannoma Paraganglioma Anomalous pulmonary venous return Specific learning disability Sensorimotor neuropathy Precocious puberty Incoordination Reduced bone mineral density Venous thrombosis Hyperthyroidism Atherosclerosis Spina bifida Bone pain Clitoral hypertrophy Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Acute leukemia Mitral valve prolapse Lymphocytosis Abnormality of the cardiovascular system Tetralogy of Fallot Rheumatoid arthritis Sensory axonal neuropathy Complete atrioventricular canal defect Gangrene Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Increased reactive oxygen species production Hypophosphatemia Overweight Systemic lupus erythematosus Severe vision loss Renal cell carcinoma Osteomalacia Freckling Neurofibromas Pulmonary fibrosis Disproportionate short stature Rhizomelia Limited elbow extension Decreased antibody level in blood Telangiectasia Choreoathetosis Intention tremor Pancytopenia Type II diabetes mellitus Apraxia Hepatitis Chorea Limb ataxia Progressive cerebellar ataxia Abnormal cerebellum morphology Polyneuropathy Distal amyotrophy Unsteady gait Abnormality of movement Abnormality of eye movement Bronchiectasis Sinusitis Neurological speech impairment Spinal muscular atrophy Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Combined immunodeficiency Glucose intolerance Athetosis Polycystic ovaries Abnormal vertebral morphology Slurred speech Cerebral palsy Reduced tendon reflexes Oculomotor apraxia Recurrent pneumonia Truncal ataxia Abnormality of the hair Lymphopenia Delayed puberty Distal muscle weakness Prematurely aged appearance Leukocytosis Ataxia Microcephaly Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Burkitt lymphoma Pleural effusion Failure to thrive Paraplegia Fever Chronic myelomonocytic leukemia Mastocytosis Acute myeloid leukemia Myelodysplasia Eosinophilia Nystagmus Strabismus Abnormality of the liver Myoclonus Respiratory tract infection Anxiety Carcinoma Elevated hepatic transaminase Difficulty walking Gait ataxia Diabetes mellitus Recurrent respiratory infections Muscle weakness Pneumonia Immunodeficiency Dystonia Cerebellar atrophy Gait disturbance Tremor Skeletal muscle atrophy Spasticity Abnormality of the immune system IgA deficiency Bowel incontinence Micromelia Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Otitis media Sleep disturbance Oral cleft Confusion Joint hyperflexibility Abnormal form of the vertebral bodies Scarring Hyperlordosis Apnea Cleft lip Abnormality of the nervous system Conductive hearing impairment Rigidity Recurrent otitis media Abnormality of the metaphysis Gastroesophageal reflux Tinnitus Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Abnormal lung morphology Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Short toe Recurrent urinary tract infections Skeletal dysplasia Severe short stature Hypopigmentation of hair Absent Achilles reflex Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Abnormality of chromosome stability Hypoplasia of the thymus Spinocerebellar tract degeneration Female hypogonadism Abnormality of the testis Renal neoplasm Recurrent bronchitis Chromosome breakage Recurrent lower respiratory tract infections Severe combined immunodeficiency Hepatocellular carcinoma Chronic hepatitis Increased sensitivity to ionizing radiation Obesity Growth delay Midface retrusion Malar flattening Ventriculomegaly Frontal bossing Hyperreflexia Depressed nasal bridge Motor delay Hearing impairment Aplasia/Hypoplasia of the thymus Generalized hypotonia Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Mucosal telangiectasiae Short 2nd finger


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