Leukemia, and Irritability

Diseases related with Leukemia and Irritability

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

Top matches:

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

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

Other less relevant matches:

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

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

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

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

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

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

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

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 Leukemia 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
Lymphoma Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

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

Rare Symptoms - Less than 30% cases

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


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