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:

  • Autosomal dominant inheritance
  • Scoliosis
  • Neoplasm
  • Fever
  • Arthritis


SOURCES: OMIM MONDO UMLS

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:

  • Pica
  • Ptosis
  • Anemia
  • Splenomegaly
  • Fever


SOURCES: UMLS DOID OMIM GARD MESH MONDO NCIT

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 hplh1, hlh1, hemophagocytic lymphohistiocytosis, familial;fhl;fhlh;hplh, reticulosis, familial histiocytic, hemophagocytic reticulosis, familial, erythrophagocytic lymphohistiocytosis, familial;fel

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: NCIT DOID MONDO ORPHANET ICD10 OMIM

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:

  • Autosomal recessive inheritance
  • Seizures
  • Short stature
  • Pica
  • Ataxia


SOURCES: UMLS MONDO OMIM

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

Medium match POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

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.

POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL Is also known as nasu-hakola disease;nhd, presenile dementia with bone cysts, dementia, prefrontal, with bone cysts, dementia, progressive, with lipomembranous polycystic osteodysplasia, brain-bone-fat disease;nhd; plo-sl; plosl; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Pica
  • Spasticity
  • Pain


SOURCES: ORPHANET MESH UMLS DOID GARD MONDO SCTID OMIM

More info about POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY; PLOSL

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as kufs disease, autosomal dominant, ceroid lipofuscinosis, neuronal, parry type;

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Hearing impairment
  • Ataxia
  • Behavioral abnormality


SOURCES: OMIM MONDO DOID ORPHANET UMLS NCIT GARD

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

Low match ATYPICAL TERATOID RHABDOID TUMOR

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET

More info about ATYPICAL TERATOID RHABDOID TUMOR

Low match HUNTINGTON DISEASE-LIKE 2; HDL2

Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2; HDL2 Is also known as ;hdl2

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria


SOURCES: MONDO DOID UMLS OMIM ORPHANET SCTID MESH

More info about HUNTINGTON DISEASE-LIKE 2; HDL2

Low match ALZHEIMER DISEASE 4

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.

ALZHEIMER DISEASE 4 Is also known as ad4, alzheimer disease, familial, 4

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Tremor
  • Depressivity


SOURCES: UMLS GARD NCIT MESH OMIM DOID MONDO

More info about ALZHEIMER DISEASE 4

Low match LIVER FAILURE, INFANTILE, TRANSIENT; LFIT

Acute infantile liver failure resulting from TRMU mutation is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development (Zeharia et al., 2009).See also transient infantile mitochondrial myopathy (MMIT ), which is a similar disorder.A more severe, permanent disorder with some overlapping features is associated with mitochondrial DNA depletion (OMIM ).See ILFS1 (OMIM ) for information on syndromic infantile liver failure.

LIVER FAILURE, INFANTILE, TRANSIENT; LFIT Is also known as ;acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Nevus
  • Feeding difficulties
  • Hepatomegaly


SOURCES: ORPHANET MONDO GARD OMIM UMLS

More info about LIVER FAILURE, INFANTILE, TRANSIENT; LFIT

Top 5 symptoms//phenotypes associated to Lymphoma and Irritability

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Pica Uncommon - Between 30% and 50% cases
Depressivity 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


Cerebral cortical atrophy Autosomal recessive inheritance Dementia Rigidity Elevated hepatic transaminase Apathy Abnormality of the coagulation cascade Parkinsonism Anxiety Anemia Cerebral calcification Myoclonus Behavioral abnormality Personality changes Fever Arthralgia Memory impairment

Rare Symptoms - Less than 30% cases


Hyperbilirubinemia Peripheral demyelination Hepatic failure Gliosis Neurofibrillary tangles Bradykinesia Jaundice Hypoalbuminemia Encephalopathy Hallucinations Limitation of joint mobility Prolonged prothrombin time Chorea Prolonged partial thromboplastin time Alzheimer disease Visual hallucinations Nevus Involuntary movements Vomiting Hydrocephalus Weight loss Gait disturbance Caudate atrophy Abdominal distention Primitive reflex Senile plaques Hepatomegaly Abnormality of movement Failure to thrive Immunodeficiency Splenomegaly Histiocytosis Hemophagocytosis Hypertriglyceridemia Increased serum ferritin Pancytopenia Hypofibrinogenemia Recurrent infections Neoplasm Hepatosplenomegaly Generalized hypotonia Disinhibition Feeding difficulties in infancy Bone cyst Cerebral edema Acidosis Acute leukemia Abnormal adipose tissue morphology Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Pathologic fracture Lack of insight Functional abnormality of the gastrointestinal tract Feeding difficulties Hearing impairment Axonal loss Abnormality of the hand Basal ganglia calcification Urinary incontinence Abnormality of the foot Leukemia Macrovesicular hepatic steatosis Hypersplenism Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Acute hepatic failure Ascites Increased serum lactate Apraxia Lactic acidosis Aciduria Metabolic acidosis Abnormality of epiphysis morphology Bone pain Reduced bone mineral density Leukoencephalopathy Oculomotor apraxia Mental deterioration Hepatic steatosis Gait ataxia Adult onset Clonus Dysarthria Neurological speech impairment Cerebral palsy Dysphasia Hemiplegia/hemiparesis Reduced consciousness/confusion Malignant neoplasm of the central nervous system Cerebral hemorrhage Hyperreflexia Dystonia Migraine Postural instability Falls Tremor Neurodegeneration Abnormality of the cerebrum Abnormal corpus striatum morphology Functional motor deficit Delusions Acanthocytosis Resting tremor Nausea and vomiting Ranula Astrocytoma Abulia Action tremor Delirium Neuronal loss in central nervous system Middle age onset Abnormality of extrapyramidal motor function Sleep-wake cycle disturbance Rapidly progressive Cerebral amyloid angiopathy Auditory hallucinations Macrocephaly Increased neuronal autofluorescent lipopigment Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Stooped posture Hypomimic face Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Granular osmiophilic deposits (GROD) in cells Lewy bodies Muscle weakness Cranial nerve paralysis Chronic fatigue Developmental regression Sepsis Dysgammaglobulinemia Perianal abscess Global developmental delay Muscular hypotonia Hypertonia Coma Thrombocytopenia Skin rash Abnormality of the liver Lymphadenopathy Tetraplegia Folliculitis Meningitis Leukopenia Aspiration Hyponatremia Encephalitis Increased intracranial pressure Hemiplegia Increased CSF protein Episodic fever Pulmonary infiltrates Erythema nodosum Abnormality of the gastrointestinal tract Generalized edema Periodontitis Arthritis Joint hypermobility Bruising susceptibility Osteoarthritis Hyperextensible skin Nephroblastoma Atrophic scars Fragile skin Gingival bleeding Premature loss of teeth Gingival recession Aplastic anemia Ptosis Recurrent respiratory infections Erythema Respiratory tract infection X-linked inheritance Decreased antibody level in blood Hepatitis Colitis Acne Inflammation of the large intestine Hypoproteinemia Decreased HDL cholesterol concentration Skeletal dysplasia Vitamin D deficiency Macrocytic anemia Malnutrition Thrombocytosis Iron deficiency anemia Celiac disease Recurrent aphthous stomatitis Scoliosis Abnormality of the abdominal wall Stomatitis Folate deficiency Vitamin K deficiency Steatorrhea Vitamin B12 deficiency Spasticity Pain Ventriculomegaly Edema Hypoplasia of the corpus callosum Cerebral atrophy Babinski sign EEG abnormality Aggressive behavior IgA deficiency Multifactorial inheritance Cellular immunodeficiency Osteoporosis Increased LDL cholesterol concentration Increased total bilirubin Increased VLDL cholesterol concentration CSF pleocytosis T-cell lymphoma Short stature Diarrhea Fatigue Heterogeneous Alopecia Abdominal pain Rickets Postnatal growth retardation Delayed puberty Infertility Polyneuropathy Eczema Spontaneous abortion Hypoplasia of dental enamel Chronic diarrhea Inflammatory abnormality of the skin Hypocalcemia Type I diabetes mellitus Mitochondrial respiratory chain defects



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