Lymphoma, and Neuroblastoma

Diseases related with Lymphoma and Neuroblastoma

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

Top matches:

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

PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Other less relevant matches:

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

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

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996).In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010).Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).

PLEUROPULMONARY BLASTOMA; PPB Is also known as ppb familial tumor and dysplasia syndrome|ppbftds

Related symptoms:

  • Neoplasm
  • Atrial septal defect
  • Patent ductus arteriosus
  • Leukemia
  • Overgrowth


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEUROPULMONARY BLASTOMA; PPB

Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).

LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni|sbla syndrome

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Leukemia
  • Lymphoma
  • Neoplasm of the skin


SOURCES: OMIM ORPHANET MENDELIAN

More info about LI-FRAUMENI SYNDROME

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

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

Top 5 symptoms//phenotypes associated to Lymphoma and Neuroblastoma

Symptoms // Phenotype % cases
Leukemia Very Common - Between 80% and 100% cases
Neoplasm Very Common - Between 80% and 100% cases
Sarcoma Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Medulloblastoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Neuroblastoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Acute lymphoblastic leukemia Weight loss Rhabdomyosarcoma Acute myeloid leukemia Nephroblastoma Pain Acute monocytic leukemia Thrombocytopenia Acute leukemia Growth delay Hodgkin lymphoma Microcephaly Cafe-au-lait spot Carcinoma Ewing sarcoma Intellectual disability Myelodysplasia Myeloid leukemia

Rare Symptoms - Less than 30% cases

Short stature Glioblastoma multiforme Glioma Astrocytoma Cleft palate Otitis media Depressed nasal bridge Headache Scarring Soft tissue sarcoma Confusion Overgrowth Osteosarcoma Chromosome breakage Malar flattening Short neck Hydrocephalus Hearing impairment Recurrent urinary tract infections Atrial septal defect Anal atresia Abnormality of the nervous system Respiratory failure Brain neoplasm Small for gestational age Freckling Hypospadias Primitive neuroectodermal tumor Neutropenia Chronic myelogenous leukemia Bruising susceptibility Fever Burkitt lymphoma Neurofibromas Colon cancer Generalized joint laxity Paraparesis Osteopetrosis Acanthosis nigricans Postnatal growth retardation Sleep apnea Infantile muscular hypotonia Megalencephaly Short long bone Disproportionate short-limb short stature Tinnitus Abnormality of cardiovascular system morphology Abnormality of pelvic girdle bone morphology Spinal cord compression Obstructive sleep apnea Back pain Epiphyseal dysplasia Clonus Chronic otitis media Spondyloepiphyseal dysplasia Flared metaphysis Short femoral neck Bowel incontinence Limited elbow extension Tibial bowing Disproportionate short stature Hip contracture Spinal canal stenosis Abnormality of the elbow Genu varum Abnormal lung morphology Short toe Severe short stature Cleft lip Conductive hearing impairment Rigidity Arthralgia Skeletal dysplasia Gastroesophageal reflux Obesity Hyperlordosis Midface retrusion Ventriculomegaly Abnormality of the skeletal system Frontal bossing Macrocephaly Brachydactyly Apnea Embryonal neoplasm Rhizomelia Epidermal acanthosis Upper airway obstruction Abnormality of the metaphysis Abnormal form of the vertebral bodies Recurrent otitis media Osteoarthritis Tetraparesis Short thumb Joint hyperflexibility Hyperpigmentation of the skin Lumbar hyperlordosis Bone marrow hypocellularity Sleep disturbance Oral cleft Aplastic anemia Micromelia Communicating hydrocephalus Cor pulmonale Dysuria Chronic pain Gingival bleeding Ecchymosis Adrenocortical carcinoma Night sweats Stomach cancer Prostate cancer Acute promyelocytic leukemia Petechiae Neoplasm of the pancreas Progressive encephalopathy Hypertelorism Neoplasm of the lung Breast carcinoma Melanoma Lung adenocarcinoma Neoplasm of the nervous system Medulloepithelioma Leukopenia Lymphadenopathy Dyspnea Recurrent infections Respiratory distress Coma Pancytopenia Fatigue Monoclonal immunoglobulin M proteinemia Seizures Prostate neoplasm Neoplasm of the adrenal cortex Menorrhagia Neoplasm of the colon Impaired lymphocyte transformation with phytohemagglutinin Plethora Neoplasm of the skin Bicuspid pulmonary valve Central apnea Neonatal short-limb short stature Cervical cord compression Ventricular septal defect Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Thoracolumbar kyphosis Small foramen magnum Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Hepatosplenomegaly Abnormality of femur morphology Iritis Childhood onset short-limb short stature Pleuropulmonary blastoma Goiter Failure to thrive Pulmonary sequestration Embryonal rhabdomyosarcoma Multinodular goiter Histiocytosis Transposition of the great arteries Patent ductus arteriosus Brain stem compression Hypertension Epicanthus Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Hyperreflexia Anemia of inadequate production Motor delay Pneumonia Hydronephrosis Retrognathia Macrotia Hyperactivity Upslanted palpebral fissure Recurrent respiratory infections Immunodeficiency Mental deterioration Diarrhea Respiratory insufficiency Skeletal muscle atrophy Intrauterine growth retardation Muscle weakness Micrognathia Intellectual disability, moderate Attention deficit hyperactivity disorder Global developmental delay Primary amenorrhea Sinusitis Telangiectasia Bronchiectasis Chronic diarrhea Abnormality of the face Choanal atresia Cutaneous photosensitivity Prominent nasal bridge Sloping forehead Amenorrhea Convex nasal ridge Prominent nose Neurodegeneration Hemolytic anemia Cleft upper lip Ataxia Adenocarcinoma of the colon Lymphopenia Hernia Impaired platelet aggregation Prolonged bleeding time Purpura Epistaxis Abnormal bleeding Umbilical hernia Neoplasm of the peripheral nervous system Agenesis of corpus callosum Peripheral neuroepithelioma Meningioma Leukocytosis Pleural effusion Paraplegia Paralysis Refractory anemia Hypopigmentation of the skin Acute myelomonocytic leukemia Lisch nodules Gray matter heterotopias Axillary freckling Colorectal polyposis Ependymoma Intestinal polyp Neoplasm of the central nervous system Intestinal polyposis Sepsis Pituitary adenoma Abnormality of abdomen morphology Multiple cafe-au-lait spots Multiple lipomas Basal cell carcinoma Hypermelanotic macule Heterotopia Abnormality of the hair Low anterior hairline Delayed speech and language development Uveitis Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Cellulitis Leukocoria Increased intracranial pressure Anorexia Postural instability Abnormality of skin pigmentation Skin rash Proptosis Leiomyosarcoma Malar rash Visual loss Pinealoma Flexion contracture Scoliosis Generalized hypotonia Neuroblastic tumors Pineoblastoma Retinal calcification Iris neovascularization Fibrosarcoma Pineal cyst Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Vitritis Glaucoma Vomiting Recurrent pneumonia Abnormality of the musculature B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Hearing abnormality Anal stenosis Autoimmune hemolytic anemia Long nose Abnormality of chromosome stability Non-midline cleft lip Combined immunodeficiency Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent sinopulmonary infections Abnormal hair quantity Blindness Mastoiditis Visual impairment Cataract Abnormal facial shape Strabismus Nystagmus Progressive vitiligo Malar prominence Decrease in T cell count Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Chromosomal breakage induced by crosslinking agents


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