Lymphoma, and Sepsis

Diseases related with Lymphoma and Sepsis

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


Top matches:

Medium match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


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

Medium match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Medium match HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1


Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

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Other less relevant matches:

Medium match SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY


Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Medium match WISKOTT-ALDRICH SYNDROME


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

Medium match HOYERAAL-HREIDARSSON 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

Low match CYCLIC NEUTROPENIA


Severe congenital neutropenia is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections (Skokowa et al., 2007). About 60% of affected individuals of European and Middle Eastern ancestry have dominant ELANE mutations, resulting in a form of severe congenital neutropenia, which is designated here as SCN1. Genetic Heterogeneity of Severe Congenital NeutropeniaSevere congenital neutropenia is a genetically heterogeneous disorder showing autosomal dominant, autosomal recessive, and X-linked inheritance. Another autosomal dominant form, SCN2 (OMIM ), is caused by mutation in the protooncogene GFI1 (OMIM ) on 1p22. Autosomal recessive forms include SCN3 (OMIM ), caused by mutation in the HAX1 gene (OMIM ) on 1q21; SCN4 (OMIM ), caused by mutation in the G6PC3 gene (OMIM ) on 17q21; SCN5 (OMIM ), caused by mutation in the VPS45 gene (OMIM ) on 1q21; SCN6 (OMIM ), caused by mutation in the JAGN1 gene (OMIM ) on 3p25; and SCN7 (OMIM ) is caused by mutation in the CSF3R gene (OMIM ) on 1p34. X-linked SCN (SCNX ) is caused by mutation in the WAS gene (OMIM ) on Xp11.See also adult chronic idiopathic nonimmune neutropenia (OMIM ) and chronic benign familial neutropenia (OMIM ). Susceptibility to Myelodysplastic Syndrome/Acute Myeloid LeukemiaSCN patients with acquired mutations in the granulocyte colony-stimulating factor receptor (CSF3R ) in hematopoietic cells define a group with high risk for progression to myelodysplastic syndrome and/or acute myeloid leukemia. Approximately 80% of SCN patients who develop AML are heterozygous for somatic CSF3R mutations (summary by Klimiankou et al., 2016).

CYCLIC NEUTROPENIA Is also known as cyclic hematopoiesis

Related symptoms:

  • Anemia
  • Fatigue
  • Thrombocytopenia
  • Recurrent respiratory infections
  • Abdominal pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYCLIC NEUTROPENIA

Low match NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3


Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Low match SICKLE CELL ANEMIA


Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur.

SICKLE CELL ANEMIA Is also known as sickle cell disease

Related symptoms:

  • Intellectual disability
  • Pain
  • Anemia
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SICKLE CELL ANEMIA

Low match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Sepsis

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Recurrent bacterial infections Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Neutropenia Eosinophilia Splenomegaly Hepatosplenomegaly Immunodeficiency Failure to thrive Hepatomegaly Fever Seizures Lymphadenopathy Pneumonia Myelodysplasia Chronic diarrhea Increased antibody level in blood Meningitis Combined immunodeficiency Recurrent infections Myeloid leukemia Neoplasm Diarrhea Hodgkin lymphoma Ataxia Cellular immunodeficiency Abnormality of the nervous system Severe combined immunodeficiency Hemolytic anemia Intellectual disability Pancytopenia Purpura Leukopenia Thrombocytosis Autoimmunity Lymphopenia Recurrent respiratory infections Bone marrow hypocellularity Acute myeloid leukemia Fatigue

Rare Symptoms - Less than 30% cases


Carious teeth Motor delay IgM deficiency Short stature Increased IgE level Otitis media Abnormal intestine morphology Peripheral neuropathy Gliosis Hepatic failure Monocytosis Renal insufficiency Confusion Irritability Hyperpigmentation of the skin Jaundice Abnormal eosinophil morphology Hypertonia Cough Generalized hypotonia Hearing impairment Intrauterine growth retardation Cryptorchidism Recurrent otitis media Intracranial hemorrhage Recurrent upper respiratory tract infections Osteoporosis Petechiae Hypospadias Microcytic anemia Respiratory distress Recurrent lower respiratory tract infections Sinusitis Iron deficiency anemia Conjunctivitis Esophageal stricture Respiratory tract infection Nephropathy Hypertension Granulocytopenia Blepharitis Abdominal pain Decreased testicular size Acute leukemia Congenital neutropenia Chest pain Hyponatremia Severe B lymphocytopenia Hypoplasia of the thymus Inflammatory abnormality of the skin Skin rash Alopecia Sarcoma Leukocytosis Hypoproteinemia Hypopigmentation of the skin Recurrent viral infections Acute lymphoblastic leukemia Carcinoma Recurrent fungal infections Generalized lymphadenopathy B lymphocytopenia Telangiectasia Patent ductus arteriosus Sparse scalp hair Gastroesophageal reflux Decreased fetal movement Hypoglycemia Truncal ataxia Oligohydramnios Paraplegia Cerebral calcification Premature graying of hair Recurrent urinary tract infections Gastrointestinal hemorrhage Hydrocephalus Increased red cell sickling tendency Talipes equinovarus Scoliosis Epiphora Pigment gallstones Horseshoe kidney Pulmonary fibrosis Cirrhosis Flared metaphysis Priapism Anosmia Dermal atrophy Pterygium Increased lactate dehydrogenase activity Neonatal respiratory distress Squamous cell carcinoma Sparse eyelashes Small for gestational age Abnormality of skin pigmentation Microcephaly Optic atrophy Achalasia Visual impairment Cataract Strabismus Growth delay Microphallus Ventriculomegaly Radial club hand Oral bleeding Specific anti-polysaccharide antibody deficiency Reduced lymphocyte surface expression of CD43 Abnormal delayed hypersensitivity skin test Absent microvilli on the surface of peripheral blood lymphocytes Overlapping fingers Aspiration pneumonia Decreased body weight Hyperhidrosis Hypergonadotropic hypogonadism Nail dystrophy Restrictive ventilatory defect Postnatal growth retardation Muscular hypotonia of the trunk Cerebral cortical atrophy Rocker bottom foot Adrenal hypoplasia Cerebellar hypoplasia Hyporeflexia Adrenal insufficiency Hyperkalemia Abnormality of the dentition Shawl scrotum Abnormality of coagulation Chronic hemolytic anemia Abnormal lactate dehydrogenase activity Cyclic neutropenia Reticulocytosis Cerebellar atrophy Abnormality of the vasculature Spasticity Congenital agranulocytosis Recurrent intrapulmonary hemorrhage Elevated serum creatinine Clumsiness Asplenia Oral ulcer Atelectasis Recurrent aphthous stomatitis Acute monocytic leukemia Increased mean corpuscular volume Aseptic necrosis Poor appetite Overlapping toe Retinopathy Bone pain Cerebral palsy Cardiomegaly Hematuria Tachypnea Stroke Cholelithiasis Tonsillitis Osteomyelitis Rigidity Respiratory failure Wheezing Pain Agranulocytosis Periodontitis Growth abnormality Persistence of hemoglobin F Aplastic anemia Microalbuminuria Chronic myelogenous leukemia Excessive wrinkled skin Testicular atrophy Hypochromic anemia Ridged nail Oral leukoplakia Lacrimal duct stenosis Chromosome breakage Premature loss of teeth Cholestasis Generalized hyperpigmentation Unconjugated hyperbilirubinemia Pure red cell aplasia Keratoconjunctivitis Abnormal hemoglobin Recurrent skin infections Fragile teeth Hypoxemia Anal mucosal leukoplakia Pterygium of nails Split nail Left ventricular failure Generalized hypopigmentation of hair Brittle scalp hair Night sweats Reticulated skin pigmentation Phimosis Abnormal leukocyte morphology Pancreatic adenocarcinoma Reticular hyperpigmentation Abnormality of the spleen Urethral stenosis Chronic leukemia Epistaxis Small vessel vasculitis Protracted diarrhea Coma Abnormality of the liver Elevated hepatic transaminase Encephalopathy Muscular hypotonia Desquamation of skin soon after birth Abnormal lymphocyte morphology Metaphyseal chondrodysplasia Peripheral demyelination Hashimoto thyroiditis Thyroiditis Aplasia/Hypoplasia of the eyebrow Erythroderma Scaling skin Disproportionate short-limb short stature Shock Tetraplegia Hypertriglyceridemia Short toe Increased CSF protein Hemophagocytosis Histiocytosis Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Increased serum ferritin Pulmonary infiltrates Aspiration Episodic fever Abnormality of the coagulation cascade Albinism Hemiplegia Hypoalbuminemia Encephalitis Increased intracranial pressure Hyperbilirubinemia Increased body weight Thickened skin Partial albinism Freckling Intestinal polyposis Astrocytoma Brain neoplasm Pituitary adenoma Abnormality of abdomen morphology Neuroblastoma Multiple cafe-au-lait spots Multiple lipomas Rhabdomyosarcoma Colon cancer Neurofibromas Basal cell carcinoma Hypermelanotic macule Nephroblastoma Cafe-au-lait spot Heterotopia Medulloblastoma Glioma Abnormality of the metaphysis Edema Nephrotic syndrome Dry skin Hypotrichosis Pruritus Papule Hypothyroidism Severe short stature Adenocarcinoma of the colon Lisch nodules Acute myelomonocytic leukemia Gray matter heterotopias Axillary freckling Colorectal polyposis Glioblastoma multiforme Ependymoma Intestinal polyp Neoplasm of the central nervous system Increased LDL cholesterol concentration Increased total bilirubin Large vessel vasculitis Glomerulosclerosis Focal segmental glomerulosclerosis Keratitis Hyperostosis Inflammation of the large intestine Chronic otitis media Glomerulonephritis Rheumatoid arthritis Urticaria Cellulitis Chronic kidney disease Vasculitis Skin ulcer Agenesis of corpus callosum Eczema Specific learning disability Sudden cardiac death Prolonged bleeding time Glomerulopathy Bruising susceptibility Spontaneous hematomas Reduced delayed hypersensitivity Congenital thrombocytopenia Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet function Internal hemorrhage Bloody diarrhea Melena Gingival bleeding Hematemesis Increased IgA level Interstitial pneumonitis Membranoproliferative glomerulonephritis Abnormality of the menstrual cycle Recurrent ear infections Chronic obstructive pulmonary disease Hematochezia Abnormal bleeding Proteinuria T-cell lymphoma Asthma IgA deficiency Autoimmune hemolytic anemia Malnutrition Abnormality of pelvic girdle bone morphology Leukoencephalopathy Recurrent pneumonia Hepatitis Platyspondyly B-cell lymphoma Abnormality of the skeletal system Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration Autoimmune thrombocytopenia Verrucae Arthritis Absent tonsils Dyspnea Arrhythmia Absent specific antibody response Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Lack of T cell function Abnormality of humoral immunity Absence of lymph node germinal center Allergy Immunoglobulin IgG2 deficiency Recurrent opportunistic infections Cortical sclerosis Aplasia of the thymus Anterior rib cupping Diffuse mesangial sclerosis Decrease in T cell count Pulmonary insufficiency Hypoplastic spleen



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