Lymphoma, and Irritability

Diseases related with Lymphoma and Irritability

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2


Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Medium match LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2


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

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 CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Medium match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match CARDIOFACIOCUTANEOUS SYNDROME


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

Medium match NASU-HAKOLA DISEASE


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Medium 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 GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Lymphoma and Irritability

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Leukemia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Failure to thrive Ataxia Pancytopenia Fatigue Neoplasm Scoliosis Umbilical hernia Global developmental delay Thrombocytopenia Ventriculomegaly Elevated hepatic transaminase Generalized hypotonia Hydrocephalus Respiratory distress Hemophagocytosis Hypertonia Congestive heart failure Increased serum ferritin Hepatic failure Strabismus Oculomotor apraxia Encephalopathy Edema Abdominal pain Arthralgia Leukopenia Bruising susceptibility Aspiration Bone pain Intellectual disability Vomiting Recurrent infections Hepatosplenomegaly Short stature Jaundice

Rare Symptoms - Less than 30% cases


Atrial septal defect Clinodactyly of the 5th finger Proptosis Hypertrophic cardiomyopathy Abnormality of cardiovascular system morphology Abnormality of the eye Abnormality of the kidney Abnormal cardiac septum morphology Renal insufficiency Dolichocephaly Abnormal heart morphology High palate Frontal bossing Growth delay Inflammatory abnormality of the skin Hypocalcemia Type I diabetes mellitus Malnutrition Iron deficiency anemia Thrombocytosis Hearing impairment Microcephaly Hypertelorism Intrauterine growth retardation Nystagmus Micrognathia Abnormal facial shape Cataract Cryptorchidism Ptosis Astigmatism Epicanthus Abnormality of the foot Behavioral abnormality Abnormality of skin pigmentation Pain Decreased body weight Thickened skin Poor suck Bilateral ptosis Ectropion Heart murmur Poor appetite Functional abnormality of the gastrointestinal tract Spasticity Abnormal bleeding Dementia Myoclonus Developmental regression Rigidity Cough Cholestasis Cholelithiasis Hypoxemia Abnormality of the spleen Cardiomegaly Neurological speech impairment Cafe-au-lait spot Abnormal aortic valve morphology Bone marrow hypocellularity Reduced bone mineral density Abnormality of vision Hydroureter Myeloid leukemia Multiple cafe-au-lait spots Abnormality of the ulna Abnormality of the testis Dysphagia Feeding difficulties in infancy Nevus Kyphosis Cerebral atrophy Delayed skeletal maturation Polyhydramnios Gastroesophageal reflux Osteopenia EEG abnormality Aggressive behavior Cerebral calcification Cerebral cortical atrophy Abdominal distention Prolonged partial thromboplastin time Diarrhea Peripheral demyelination CSF pleocytosis Respiratory tract infection Hyperbilirubinemia Hypofibrinogenemia Joint hypermobility Abnormality of the gastrointestinal tract Histiocytosis Inguinal hernia Prolonged prothrombin time Immunodeficiency Alopecia Purpura Acute leukemia Hemolytic anemia Lymphadenopathy Confusion Aplastic anemia Abnormality of the coagulation cascade Abnormality of the liver Recurrent respiratory infections Hyponatremia Abnormality of the nervous system Depressivity Muscular hypotonia Osteoporosis Gliosis Postnatal growth retardation Erythema Sepsis Hyperextensible skin Hypertriglyceridemia Weight loss Bone cyst Morphological abnormality of the gastrointestinal tract Abnormality of the auditory canal Inappropriate crying Optic nerve dysplasia Axonal loss Hypoplasia of the frontal lobes Neurofibrillary tangles Cutaneous T-cell lymphoma Inappropriate behavior Puberty and gonadal disorders Tongue thrusting Primitive reflex Senile plaques Abnormal location of ears Generalized ichthyosis Abnormality of the hairline Hyperkeratosis pilaris Laryngeal cleft Cerebral edema Disinhibition Multiple palmar creases Oral aversion Eyelid fasciculation Skeletal dysplasia Memory impairment Apraxia Limitation of joint mobility Chorea Abnormality of movement Abnormality of epiphysis morphology Fragile skin Gingival bleeding Leukoencephalopathy Abnormality of the hand Multiple plantar creases Periodontitis Personality changes Babinski sign Alzheimer disease Hypoplasia of the corpus callosum Gait disturbance Gingival recession Pathologic fracture Urinary incontinence Basal ganglia calcification Premature loss of teeth Sparse or absent eyelashes Patchy alopecia Aplasia/Hypoplasia of the eyebrow Atopic dermatitis Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Neurodevelopmental delay Open bite Abnormal eyelash morphology Large for gestational age Absent eyebrow Obsessive-compulsive behavior Chronic otitis media Cubitus valgus Melanocytic nevus Decreased antibody level in blood Pleural effusion Scaling skin Sparse eyebrow Hepatitis Failure to thrive in infancy Brittle hair Redundant skin Alopecia of scalp Arnold-Chiari type I malformation Abnormal tricuspid valve morphology Slow-growing hair Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Agnosia Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Subvalvular aortic stenosis Thickened helices Abnormal mitral valve morphology Enlarged kidney Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Abnormal upper motor neuron morphology Nephroblastoma Frontal lobe dementia Akinesia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Bulbar palsy Exertional dyspnea Hypokinesia Interstitial pulmonary abnormality Petechiae Abnormality of coagulation Opisthotonus Menorrhagia Athetosis Clubbing Epileptic spasms Abnormality of the thorax Portal hypertension Intracranial hemorrhage Hyperammonemia Osteolysis Knee flexion contracture Elbow flexion contracture Cardiac arrest Progressive microcephaly Hydrops fetalis Anorexia Progressive neurologic deterioration Pulmonary arterial hypertension Limb hypertonia Hepatocellular carcinoma Decreased fetal movement Axial dystonia Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Laryngeal stridor Giant cell hepatitis Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Abducens palsy Eclabion Aspiration pneumonia Abnormal pattern of respiration Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the larynx Multiple myeloma Congenital nonbullous ichthyosiform erythroderma Supranuclear gaze palsy Nonimmune hydrops fetalis Slow saccadic eye movements Trismus Bulbar signs Hypomagnesemia Fetal akinesia sequence Epistaxis Cyanosis Caudate atrophy Tachypnea Left ventricular failure Increased mean corpuscular volume Atelectasis Asplenia Elevated serum creatinine Abnormality of the vasculature Reticulocytosis Aseptic necrosis Wheezing Microcytic anemia Osteomyelitis Leukocytosis Osteoarthritis Cerebral palsy Abnormal hemoglobin Recurrent bacterial infections Chest pain Nephropathy Hematuria Stroke Retinopathy Atrophic scars Respiratory failure Pneumonia Hypertension Euphoria Lack of insight Abnormal adipose tissue morphology Night sweats Microalbuminuria Abnormality of the skin Hypoglycemia Brain atrophy Syncope Generalized myoclonic seizures Ascites Pulmonary hypoplasia Cirrhosis Nausea Abnormality of eye movement Ophthalmoplegia Lethargy Corneal opacity Pallor Apnea Dyspnea Chronic myelogenous leukemia Arrhythmia Dystonia Motor delay Flexion contracture Increased red cell sickling tendency Pigment gallstones Priapism Increased lactate dehydrogenase activity Abnormal lactate dehydrogenase activity Persistence of hemoglobin F Pure red cell aplasia Unconjugated hyperbilirubinemia Chronic hemolytic anemia Hypochromic anemia Deep philtrum Abnormality of the nail Relative macrocephaly Abnormality of the genital system Azoospermia Horseshoe kidney Eosinophilia Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Encephalitis Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Renal hypoplasia/aplasia Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Hypopigmentation of the skin Neutropenia Hypoalbuminemia Vertigo Hemiplegia Anal atresia Facial asymmetry Toe syndactyly Cranial nerve paralysis Hypopigmented skin patches Hip dislocation Aplasia/Hypoplasia of the radius Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Absent radius Increased intracranial pressure Abnormality of blood and blood-forming tissues Acute myeloid leukemia Meningitis Absent thumb Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Albinism Finger syndactyly Tetraplegia Thyroiditis Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Vitamin B12 deficiency Vitamin K deficiency Vitamin D deficiency Folate deficiency Abnormality of the abdominal wall Recurrent aphthous stomatitis Stomatitis Chronic fatigue Anxiety IgA deficiency Cleft palate Macrocytic anemia Celiac disease Steatorrhea Rickets Abnormal intestine morphology Spontaneous abortion Autoimmunity Malabsorption Chronic diarrhea Hypoplasia of dental enamel Delayed puberty Eczema Infertility Polyneuritis Increased VLDL cholesterol concentration Small for gestational age Patent ductus arteriosus Combined immunodeficiency Increased antibody level in blood Episodic fever Carcinoma Pes planus Hypothyroidism Severe combined immunodeficiency Diabetes mellitus Upslanted palpebral fissure Hypogonadism Severe short stature Pulmonary infiltrates Increased CSF protein Hypospadias T-cell lymphoma Headache Microphthalmia Hypoproteinemia Generalized edema Decreased HDL cholesterol concentration Cellular immunodeficiency Abnormality of the skeletal system Increased LDL cholesterol concentration Hyperreflexia Partial albinism Visual impairment Increased total bilirubin Granulocytopenia Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Palmoplantar hyperkeratosis Ichthyosis Vesicoureteral reflux Full cheeks Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Long face Peripheral axonal neuropathy Dry skin Premature birth Genu valgum Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Nail dystrophy Pruritus Pectus carinatum Scarring Sparse hair Immune dysregulation Low-set, posteriorly rotated ears Telecanthus Intestinal malrotation Dental malocclusion Hydronephrosis Hyperpigmentation of the skin Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Recurrent skin infections Sparse eyelashes Narrow palate Polyneuropathy Cerebral visual impairment Lymphedema Webbed neck Acne Inflammation of the large intestine Open mouth Hemiparesis Myocardial infarction Fine hair Low posterior hairline Coarctation of aorta Colitis Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Folliculitis Erythema nodosum Abnormal localization of kidney Chromosomal breakage induced by crosslinking agents Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Decreased fertility in males Feeding difficulties Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Low-set ears Delayed speech and language development Coarse facial features Long philtrum Dysgammaglobulinemia Macrotia High forehead Autism Hyperkeratosis Hyperhidrosis Prominent forehead Posteriorly rotated ears Constipation Pectus excavatum Hernia Skin rash Malar flattening Short nose Depressed nasal bridge Abnormality of the dentition Blindness Intellectual disability, severe Cardiomyopathy Short neck Anteverted nares Ventricular septal defect Coma Downslanted palpebral fissures Optic atrophy Macrocephaly Myopia Dysarthria EEG with temporal sharp waves



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hemolytic anemia, related diseases and genetic alterations Microphthalmia and Joint laxity, related diseases and genetic alterations

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