Lymphoma, and Hepatic steatosis

Diseases related with Lymphoma and Hepatic steatosis

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

Top matches:

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Lymphoproliferative syndrome-2, also known as CD27 deficiency, is an autosomal recessive immunodeficiency disorder associated with persistent symptomatic EBV viremia, hypogammaglobulinemia, and impairment in specific antibody function resulting from impaired T cell-dependent B-cell responses and T-cell dysfunction (summary by van Montfrans et al., 2012). The phenotype can vary significantly, from asymptomatic borderline-low hypogammaglobulinemia, to a full-blown symptomatic systemic inflammatory response with life-threatening EBV-related complications, including hemophagocytic lymphohistiocytosis, a lymphoproliferative disorder, and malignant lymphoma requiring stem cell transplantation (summary by Salzer et al., 2013).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2 Is also known as cd27 deficiency

Related symptoms:

  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 2; LPFS2

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Related symptoms:

  • Hepatomegaly
  • Edema
  • Splenomegaly
  • Alopecia
  • Hyperkeratosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLASSIC MYCOSIS FUNGOIDES

Other less relevant matches:

G6PD deficiency is the most common genetic cause of chronic and drug-, food-, or infection-induced hemolytic anemia. G6PD catalyzes the first reaction in the pentose phosphate pathway, which is the only NADPH-generation process in mature red cells; therefore, defense against oxidative damage is dependent on G6PD. Most G6PD-deficient patients are asymptomatic throughout their life, but G6PD deficiency can be life-threatening. The most common clinical manifestations of G6PD deficiency are neonatal jaundice and acute hemolytic anemia, which in most patients is triggered by an exogenous agent, e.g., primaquine or fava beans. Acute hemolysis is characterized by fatigue, back pain, anemia, and jaundice. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. The striking similarity between the areas where G6PD deficiency is common and Plasmodium falciparum malaria (see {611162}) is endemic provided evidence that G6PD deficiency confers resistance against malaria (summary by Cappellini and Fiorelli, 2008).

ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY Is also known as favism, susceptibility to

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Muscle weakness
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY

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

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION Is also known as rs-scid|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation

Related symptoms:

  • Failure to thrive
  • Fever
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.

RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE Is also known as alps4|rald|autoimmune lymphoproliferative syndrome, type iv

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISEASE

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA ), and general dysregulation of the immune pathway, such as increased levels of IL18 (OMIM ). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by Yang et al., 2012; review by Latour and Aguilar, 2015).Latour and Aguilar (2015) provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology.For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 (OMIM ).

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2 Is also known as xiap deficiency

Related symptoms:

  • Anemia
  • Fever
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

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

Top 5 symptoms//phenotypes associated to Lymphoma and Hepatic steatosis

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Lymphadenopathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Immunodeficiency Respiratory tract infection Thrombocytopenia Hepatosplenomegaly Recurrent infections Skin rash Decreased antibody level in blood Pancytopenia Pruritus Recurrent respiratory infections Hodgkin lymphoma Leukemia Hemophagocytosis Pneumonia Lymphoproliferative disorder Erythema Fatigue Hemolytic anemia Failure to thrive

Rare Symptoms - Less than 30% cases

Intellectual disability T-cell lymphoma Autoimmunity Autoimmune hemolytic anemia Ataxia Recurrent upper respiratory tract infections Recurrent skin infections Poor appetite Immune dysregulation Global developmental delay Recurrent pneumonia Cutaneous T-cell lymphoma Hyperkeratosis Dysgammaglobulinemia Abnormality of the nail Alopecia Lymphopenia Abnormality of the gastrointestinal tract Edema Hypotrichosis Dry skin Aplastic anemia Irritability Cirrhosis Pleural effusion Hyperhidrosis Ascites Combined immunodeficiency Abnormality of the cardiovascular system Hypopigmented skin patches Uveitis Eczema Irregular hyperpigmentation Eyelid fasciculation Multiple plantar creases Oral aversion Erythroderma Psoriasiform dermatitis Skin ulcer Neoplasm of the skin Impaired T cell function Puberty and gonadal disorders Multiple palmar creases Abnormal myocardium morphology Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Delayed CNS myelination Excessive wrinkled skin Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Abnormality of the pulmonary artery Abnormality of hair texture Abnormality of the auditory canal Generalized ichthyosis Inappropriate crying Morphological abnormality of the gastrointestinal tract Poikiloderma Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Hypoplasia of the frontal lobes Cavernous hemangioma Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormal eyelid morphology Leukocytosis Abnormality of bone marrow cell morphology Increased antibody level in blood Hypertriglyceridemia Hepatitis Decreased lymphocyte apoptosis Monocytosis Follicular hyperplasia Lymphocytosis Autoimmune thrombocytopenia Purpura Inflammation of the large intestine Vasculitis Cardiac arrest Neutropenia Absent tonsils Lymph node hypoplasia Genital ulcers Panhypogammaglobulinemia Increased sensitivity to ionizing radiation Acne Colitis Oral ulcer Anorexia Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Lung adenocarcinoma Cellular immunodeficiency Hemoptysis Osteolysis Bone marrow hypocellularity Bone pain Migraine Increased serum ferritin Chest pain Cough Weight loss Respiratory insufficiency Peripheral neuropathy Hypofibrinogenemia Erythema nodosum Folliculitis Aplasia of the thymus Severe combined immunodeficiency Skin plaque Enlarged kidney Nonspherocytic hemolytic anemia Hemoglobinuria Poikilocytosis Anisocytosis Reticulocytosis Prolonged neonatal jaundice Osteomyelitis Back pain Kernicterus Hyperbilirubinemia Meningitis Pallor Myalgia Jaundice Pain Muscle weakness Abnormal lymphocyte morphology Unconjugated hyperbilirubinemia Fava bean-induced hemolytic anemia Chronic diarrhea Respiratory failure Otitis media Diarrhea Abnormality of the skeletal system Chronic infection Recurrent sinusitis Sinusitis Bronchiectasis Hepatic failure Dilatation Elevated erythrocyte sedimentation rate Generalized lymphadenopathy Granulomatosis Histiocytosis Recurrent aphthous stomatitis Stomatitis Pulmonary infiltrates IgG deficiency Pericardial effusion Absent eyelashes Multiple cafe-au-lait spots Arnold-Chiari type I malformation Posteriorly rotated ears Macrotia Gastroesophageal reflux High forehead Polyhydramnios Proptosis Autism Cerebral cortical atrophy Prominent forehead Constipation Coarse facial features Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Encephalopathy Pectus excavatum Depressivity Hernia Osteopenia Umbilical hernia Cerebral atrophy Abnormal cardiac septum morphology Genu valgum Pulmonic stenosis Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Neurological speech impairment Pectus carinatum Scarring EEG abnormality Sparse hair Feeding difficulties in infancy Abnormality of the kidney Abnormality of the eye Low-set, posteriorly rotated ears Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis Abnormality of cardiovascular system morphology Malar flattening Ichthyosis Cataract Epicanthus Depressed nasal bridge Delayed speech and language development Feeding difficulties High palate Low-set ears Ptosis Cryptorchidism Muscular hypotonia Myopia Strabismus Micrognathia Nystagmus Hypertelorism Growth delay Scoliosis Hearing impairment Generalized hypotonia Short stature Dysarthria Macrocephaly Long philtrum Intellectual disability, severe Short nose Kyphosis Behavioral abnormality Congestive heart failure Hypertonia Abnormality of the dentition Vomiting Blindness Atrial septal defect Optic atrophy Cardiomyopathy Hydrocephalus Short neck Anteverted nares Ventriculomegaly Ventricular septal defect Dysphagia Frontal bossing Downslanted palpebral fissures Astigmatism Peripheral axonal neuropathy Abnormal eyelash morphology Brittle hair Chronic otitis media Cubitus valgus Melanocytic nevus Ectropion Scaling skin Sparse eyebrow Bilateral ptosis Failure to thrive in infancy Redundant skin Obsessive-compulsive behavior Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Heart murmur Absent eyebrow Hemangioma Seizures Alopecia of scalp Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Large for gestational age Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Open bite Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormality of skin pigmentation Palmoplantar keratoderma Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance Growth hormone deficiency High, narrow palate Thick vermilion border Retinal dystrophy Bruising susceptibility Bulbous nose Falls Joint hypermobility Long face Webbed neck Progressive visual loss Abnormal palate morphology Cafe-au-lait spot Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Cerebral visual impairment Hyperpigmentation of the skin Lymphedema Thickened skin Narrow forehead Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Cardiomegaly Polyclonal elevation of IgM


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hypoglycemia, related diseases and genetic alterations Hepatomegaly and Aggressive behavior, related diseases and genetic alterations