Hepatomegaly, and Hodgkin lymphoma

Diseases related with Hepatomegaly and Hodgkin lymphoma

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

Top matches:

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME Is also known as alps|autoimmune lymphoproliferative syndrome, type i, autosomal dominant|fas deficiency|canale-smith syndrome

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Edema
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME

Other less relevant matches:

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.

WISKOTT-ALDRICH SYNDROME Is also known as aldrich syndrome|imd2|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|was|was1|wiskott-aldrich syndrome 1

Related symptoms:

  • Neoplasm
  • Anemia
  • Peripheral neuropathy
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about WISKOTT-ALDRICH SYNDROME

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|zinsser-cole-engman syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HOYERAAL-HREIDARSSON SYNDROME

Medium match OVARIAN CANCER

Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008).

Related symptoms:

  • Neoplasm
  • Pain
  • Fatigue
  • Respiratory distress
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about OVARIAN CANCER

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hodgkin lymphoma

Symptoms // Phenotype % cases
Neoplasm Very Common - Between 80% and 100% cases
Lymphoma Very Common - Between 80% and 100% cases
Thrombocytopenia Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Hodgkin lymphoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases

Lymphadenopathy Immunodeficiency Carcinoma Recurrent infections Pneumonia Hepatosplenomegaly Autoimmunity Cellular immunodeficiency Non-Hodgkin lymphoma Pancytopenia Fever Neutropenia Aplastic anemia Bone marrow hypocellularity Fatigue Lymphocytosis Hypopigmentation of the skin Basal cell carcinoma B-cell lymphoma Sepsis Hemolytic anemia Vasculitis Decreased antibody level in blood Lymphopenia Increased antibody level in blood Sarcoma

Rare Symptoms - Less than 30% cases

Seizures Reduced delayed hypersensitivity Increased IgA level Increased IgM level Dilatation Bronchiectasis Meningitis Petechiae Iron deficiency anemia Chronic lymphatic leukemia Constipation Intellectual disability Sparse eyelashes Acute leukemia Rheumatoid arthritis Arthritis Conjunctivitis Blepharitis Squamous cell carcinoma Respiratory distress Short stature Gastrointestinal hemorrhage Alopecia Urticaria Diarrhea Strabismus Failure to thrive Growth delay Glomerulonephritis Visual impairment Hyperhidrosis Impaired lymphocyte transformation with phytohemagglutinin Dysgammaglobulinemia Weight loss IgG deficiency Lymphoproliferative disorder Immune dysregulation Autoimmune hemolytic anemia Chest pain Generalized lymphadenopathy Cough Lung adenocarcinoma Granulomatosis Respiratory insufficiency Ascites Renal insufficiency Histiocytosis Peripheral neuropathy Purpura Ataxia Small vessel vasculitis Recurrent intrapulmonary hemorrhage Chronic leukemia Abnormal platelet morphology Large vessel vasculitis Internal hemorrhage Absent microvilli on the surface of peripheral blood lymphocytes Congenital thrombocytopenia Abnormal delayed hypersensitivity skin test Reduced lymphocyte surface expression of CD43 Abnormal platelet function Decreased mean platelet volume Multiple cafe-au-lait spots Specific anti-polysaccharide antibody deficiency Abnormality of the dentition Small for gestational age Postnatal growth retardation Muscular hypotonia of the trunk Cerebral cortical atrophy Osteoporosis Cerebellar hypoplasia Hyporeflexia Hypospadias Hypertonia Oral bleeding Glioblastoma multiforme Ventriculomegaly Optic atrophy Intrauterine growth retardation Cryptorchidism Cataract Microcephaly Generalized hypotonia Global developmental delay Hearing impairment Hematemesis Abnormal eosinophil morphology Eczema Glomerulosclerosis Intracranial hemorrhage Chronic kidney disease Recurrent upper respiratory tract infections Skin ulcer Sinusitis Chronic diarrhea Recurrent otitis media Epistaxis Specific learning disability Inflammation of the large intestine Otitis media Sudden cardiac death Abnormal bleeding Axillary freckling Gray matter heterotopias Nephropathy Bruising susceptibility Acute myelomonocytic leukemia Respiratory tract infection Chronic otitis media Hyperostosis Bloody diarrhea Hypoplasia of the thymus Spontaneous hematomas Melena Carious teeth Interstitial pneumonitis Membranoproliferative glomerulonephritis Abnormality of the menstrual cycle Increased IgE level Recurrent ear infections IgM deficiency Colorectal polyposis Keratitis Chronic obstructive pulmonary disease Hematochezia Recurrent lower respiratory tract infections Gingival bleeding Glomerulopathy Microcytic anemia Cellulitis Prolonged bleeding time Combined immunodeficiency Focal segmental glomerulosclerosis Nail dystrophy Cerebral calcification Abnormality of skin pigmentation Vomiting Abdominal distention Nausea Nausea and vomiting Gastroesophageal reflux Abdominal pain Intestinal polyposis Medulloblastoma Abnormality of metabolism/homeostasis Pain Melanoma Anal mucosal leukoplakia Pterygium of nails Rhabdomyosarcoma Glioma Split nail Generalized hypopigmentation of hair Lisch nodules Fragile teeth Increased body weight Breast carcinoma Reticulated skin pigmentation Nephroblastoma Neuroblastoma Acute lymphoblastic leukemia Abnormality of abdomen morphology Freckling Multiple lipomas Colon cancer Neurofibromas Hypermelanotic macule Cafe-au-lait spot Back pain Pituitary adenoma Heterotopia Agenesis of corpus callosum Ovarian papillary adenocarcinoma Brain neoplasm Dysgerminoma Astrocytoma Ovarian carcinoma Ovarian neoplasm Brittle scalp hair Phimosis Ependymoma Truncal ataxia Neonatal respiratory distress Myelodysplasia Pterygium Dermal atrophy Anosmia Abnormal intestine morphology Leukopenia Horseshoe kidney Hyperpigmentation of the skin Flared metaphysis Telangiectasia Sparse scalp hair Decreased fetal movement Oligohydramnios Decreased testicular size Gliosis Intestinal polyp Cirrhosis Epiphora Pulmonary fibrosis Abnormal leukocyte morphology Dyspnea Pancreatic adenocarcinoma Neoplasm of the central nervous system Reticular hyperpigmentation Urethral stenosis Lacrimal duct stenosis Keratoconjunctivitis Esophageal stricture Excessive wrinkled skin Testicular atrophy Premature graying of hair Ridged nail Oral leukoplakia Chromosome breakage Premature loss of teeth Generalized hyperpigmentation Acute myeloid leukemia Myeloid leukemia Restrictive ventilatory defect Abnormality of coagulation Proteinuria Abnormality of the pancreas Recurrent respiratory infections Burkitt lymphoma Hypertension Depressed nasal bridge Cognitive impairment Muscular hypotonia Scoliosis Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Hepatic necrosis Wide nasal bridge Pure red cell aplasia Chorioretinitis Hepatic encephalopathy Recurrent pharyngitis Agammaglobulinemia Encephalitis Hemiparesis Memory impairment Epicanthus Myopia Falls Joint laxity Malabsorption Hypotrichosis Arthrogryposis multiplex congenita Pectus carinatum Abnormal cardiac septum morphology Sparse hair Hyperlordosis Low-set, posteriorly rotated ears EEG abnormality Abnormality of the skeletal system Skeletal dysplasia Macrotia Brachycephaly Prominent forehead Severe short stature Delayed skeletal maturation Cardiomyopathy Short neck Anteverted nares Hepatic failure Respiratory failure Joint hyperflexibility Migraine Edema Polyclonal elevation of IgM Monoclonal immunoglobulin M proteinemia Poor appetite Hemoptysis Osteolysis Bone pain Anorexia Pruritus Eosinophilia Skin rash Hemophagocytosis Recurrent aphthous stomatitis Stomatitis Pulmonary infiltrates Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Hepatitis Autoimmune thrombocytopenia Intermediate uveitis Cervical lymphadenopathy Increased proportion of HLA DR+ T cells Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells Smooth muscle antibody positivity Antineutrophil antibody positivity Decreased lymphocyte apoptosis Platelet antibody positive Coombs-positive hemolytic anemia Rheumatoid factor positive Increased IgG level Uveitis Autoimmune neutropenia Follicular hyperplasia Antiphospholipid antibody positivity Chronic noninfectious lymphadenopathy Extramedullary hematopoiesis Generalized edema Multiple myeloma Antinuclear antibody positivity Hepatocellular carcinoma Narrow chest Micromelia Arrhythmia Metaphyseal chondrodysplasia Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Abnormality of chromosome stability Metaphyseal cupping Aplasia/Hypoplasia affecting the eye Spinal dysraphism Aplasia/Hypoplasia of the abdominal wall musculature Generalized joint laxity Tracheal stenosis Fair hair Heart block Upper limb undergrowth Overweight Thrombocytosis Large face Congenital hypoplastic anemia Distal arthrogryposis Biconvex vertebral bodies Hyperthyroidism Systemic lupus erythematosus Neurodegeneration Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Severe T-cell immunodeficiency Neonatal short-limb short stature Sparse facial hair Metaphyseal dysostosis Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Exocrine pancreatic insufficiency Esophageal atresia Joint hypermobility Abnormality of the metaphysis Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Depressed nasal ridge Hypocalcemia Fine hair Blue sclerae Lumbar hyperlordosis Abnormality of the ribs Convex nasal ridge Postural instability Small hand Short palm Short ribs Accelerated skeletal maturation Hypoplasia of the odontoid process Mesomelia Anal stenosis Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Tibial bowing Limited elbow extension Femoral bowing Short thorax Neoplasm of the skin Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Sacral dimple Reduced tendon reflexes Abnormal palate morphology Adenocarcinoma of the colon


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