Cognitive impairment, and Burkitt lymphoma

Diseases related with Cognitive impairment and Burkitt lymphoma

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Burkitt lymphoma that can help you solving undiagnosed cases.


Top matches:

Medium match X-LINKED LYMPHOPROLIFERATIVE DISEASE


X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

X-LINKED LYMPHOPROLIFERATIVE DISEASE Is also known as xlpd|duncan disease|xlp|immunodeficiency 5|infectious mononucleosis, severe, susceptibility to|purtilo syndrome|imd5|ebvs|lymphoproliferative disease, x-linked|epstein-barr virus infection, familial fatal|lyp|ebv infection, severe, susceptibility to|immun

Related symptoms:

  • Seizures
  • Neoplasm
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED LYMPHOPROLIFERATIVE DISEASE

Medium match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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Other less relevant matches:

Low match ATAXIA-TELANGIECTASIA


Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.

ATAXIA-TELANGIECTASIA Is also known as at1|louis-bar syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATAXIA-TELANGIECTASIA

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Low match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Burkitt lymphoma

Symptoms // Phenotype % cases
Lymphoma Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Burkitt lymphoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


B-cell lymphoma

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections

Common Symptoms - More than 50% cases


Leukemia

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


Bronchiectasis Failure to thrive Growth delay Lymphopenia Global developmental delay Ataxia Seizures Strabismus Splenomegaly Pneumonia Diarrhea Cafe-au-lait spot Short neck Generalized hypotonia Microcephaly Depressed nasal bridge Recurrent respiratory infections Hepatomegaly Cellular immunodeficiency Scoliosis Abnormal facial shape Fever Neutropenia Combined immunodeficiency Vasculitis Abnormality of chromosome stability Motor delay Intrauterine growth retardation Macrotia Pancytopenia Hepatosplenomegaly Lymphadenopathy Cardiomyopathy Falls Hypertension Respiratory insufficiency Multiple cafe-au-lait spots Fine hair Lymphoproliferative disorder Gastrointestinal hemorrhage Epistaxis Non-Hodgkin lymphoma Malabsorption Hodgkin lymphoma Decreased antibody level in blood Cerebellar atrophy Gait disturbance Skeletal muscle atrophy Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Myopia Astigmatism Congestive heart failure Neurodegeneration Hemolytic anemia Fair hair Convex nasal ridge Autoimmunity Resting tremor Renal insufficiency Mental deterioration Headache Hyperlordosis Hypersplenism Developmental regression Abnormality of the nervous system Hyperpigmentation of the skin Muscle weakness Cutaneous photosensitivity Cranial nerve paralysis Telangiectasia Abnormality of movement Tremor Myoclonus Difficulty walking Hypopigmentation of the skin Carcinoma Respiratory tract infection Polyneuropathy Nystagmus Reduced tendon reflexes Abnormal cerebellum morphology Spinocerebellar tract degeneration Visual impairment Impaired lymphocyte transformation with phytohemagglutinin Severe combined immunodeficiency Dysarthria Hearing impairment Sinusitis Leukopenia Abnormality of the hair Gingival bleeding Pleural effusion Recurrent pneumonia Deep philtrum Glomerulonephritis Anal stenosis Hypopigmentation of hair Recurrent bronchitis Gastroesophageal reflux Hyporeflexia Abnormal bleeding Abnormality of the skeletal system Normocytic anemia Acute lymphoblastic leukemia Stroke High pitched voice Delayed speech and language development Postnatal growth retardation Anxiety Prominent forehead Thin upper lip vermilion Retrognathia Diabetes mellitus Upslanted palpebral fissure Severe short stature Delayed skeletal maturation Pectus excavatum Long philtrum Edema Atrial septal defect Wide nasal bridge High palate Joint laxity Encephalitis Dilatation Respiratory failure Abnormal T cell morphology Memory impairment Mucopolysacchariduria Bone marrow hypocellularity Aplastic anemia Low-set ears Muscular hypotonia Epicanthus Dysgammaglobulinemia Anteverted nares Micrognathia Small for gestational age Melanocytic nevus Low-set, posteriorly rotated ears Brain atrophy Joint hypermobility Lumbar hyperlordosis Blue sclerae Type II diabetes mellitus Wide intermamillary distance Webbed neck Triangular face Bruising susceptibility Pectus carinatum Abnormal form of the vertebral bodies Migraine Accelerated skeletal maturation Abnormality of epiphysis morphology Highly arched eyebrow Sparse hair Small hand Short palm Ptosis Abnormality of the subarachnoid space Esotropia Pulmonary infiltrates Reduced factor X activity Hypertelorism Cryptorchidism Feeding difficulties Reduced prothrombin activity Visual loss Abnormality of the foot Juvenile myelomonocytic leukemia Macrocephaly Mitral regurgitation Optic atrophy Downslanted palpebral fissures Fatigue Thick vermilion border Weight loss Premature arteriosclerosis Abnormal immunoglobulin level Cyanosis Purpura Hip dysplasia Anorexia Moyamoya phenomenon Vertigo Cutis marmorata Urticaria Reduced factor XII activity Nephrosclerosis Low posterior hairline Pallor Proptosis Lateral displacement of the femoral head Elevated erythrocyte sedimentation rate Anterior pituitary dysgenesis Monocytosis Hypoplasia of olfactory tract Posteriorly rotated ears Overfolded helix Myopathy Cubitus valgus Abnormality of cardiovascular system morphology Abnormality of the thorax Inguinal hernia Hydrops fetalis Aortic valve stenosis Bilateral ptosis Decreased muscle mass Failure to thrive in infancy Cholelithiasis Poor suck Bilateral single transverse palmar creases Polyhydramnios Bicuspid aortic valve Feeding difficulties in infancy High forehead Proximal placement of thumb Neurodevelopmental delay Frontal bossing Chylothorax Pulmonic stenosis Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Torticollis Broad toe Prominent fingertip pads Hypochromic microcytic anemia Abnormal eyebrow morphology Respiratory distress Abnormality of the spleen Short attention span Hypermetropia Broad forehead Lymphedema Hydrocele testis Facial hypotonia Ascites Raynaud phenomenon Sacral dimple Edema of the lower limbs Severe T-cell immunodeficiency Paraplegia Spastic paraplegia Abnormality of the eye Rigidity Photophobia Jaundice Reduced visual acuity Areflexia Pulmonary lymphoma Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Sparse facial hair Peripheral axonal neuropathy Metaphyseal dysostosis Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Hypoplastic anemia Abnormally ossified vertebrae Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Paresthesia Sensory neuropathy Metaphyseal chondrodysplasia Periodontitis Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Progressive peripheral neuropathy Hemophagocytosis White hair Generalized hypopigmentation Gingivitis Parkinsonism Iris hypopigmentation Generalized hyperpigmentation Sensory axonal neuropathy Cerebral hemorrhage Albinism Decreased nerve conduction velocity Abnormality of vision Foot dorsiflexor weakness Skin ulcer Amblyopia Hypertriglyceridemia Abnormality of extrapyramidal motor function Bradykinesia Peripheral demyelination Metaphyseal cupping Aplasia/Hypoplasia affecting the eye Hypercoagulability Arthrogryposis multiplex congenita Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Aganglionic megacolon Bowing of the long bones Abnormality of the metaphysis Depressed nasal ridge Abnormality of the ribs Postural instability Micromelia Joint hyperflexibility Narrow chest Hypotrichosis Abnormal cardiac septum morphology Hypocalcemia EEG abnormality Skeletal dysplasia Brachycephaly Alopecia Constipation Polyclonal elevation of IgM Cryoglobulinemia Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Short ribs Sparse eyelashes Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the hip bone Abnormality of the pancreas Generalized joint laxity Tracheal stenosis Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Macrocytic anemia Metaphyseal dysplasia High hypermetropia Tibial bowing Neoplasm of the skin Basal cell carcinoma Limited elbow extension Femoral bowing Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Increased thyroid-stimulating hormone level Abnormal palate morphology Encephalomalacia Kyphosis Shallow acetabular fossae Amenorrhea Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Cachexia Low anterior hairline Chronic diarrhea Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Sloping forehead Otitis media Abnormality of the musculature Prominent nose Cleft upper lip Anal atresia Prominent nasal bridge Attention deficit hyperactivity disorder Intellectual disability, moderate Hydronephrosis Hyperactivity Hypospadias Cleft palate Increased serum insulin-like growth factor 1 Hypoplastic facial bones Freckling Autoimmune hemolytic anemia Rieger anomaly Penoscrotal hypospadias Delayed puberty Neurological speech impairment Distal muscle weakness Abnormality of the liver Elevated hepatic transaminase Gait ataxia Dystonia Flexion contracture Spasticity Progressive vitiligo Mastoiditis Malar prominence Anorectal anomaly Neuroblastoma Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Recurrent sinopulmonary infections Abnormal eyelid morphology Acute leukemia Hearing abnormality Prominent scalp veins Broad finger Unsteady gait Increased IgM level Narrow mouth Clinodactyly Obesity Malar flattening Hypertonia Hypoplasia of the corpus callosum Ventricular septal defect Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Hepatic necrosis Pure red cell aplasia Chorioretinitis Muscular hypotonia of the trunk Granulomatosis Hepatic encephalopathy Histiocytosis Lymphocytosis Recurrent pharyngitis Immune dysregulation Agammaglobulinemia IgG deficiency Increased antibody level in blood Sarcoma Meningitis Hemiparesis Hepatic failure Deeply set eye Synophrys Esodeviation Patent foramen ovale Perimembranous ventricular septal defect Abnormality of the rib cage Small face Maternal diabetes Severe failure to thrive Severe intrauterine growth retardation Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure Agitation Radial deviation of finger Lipodystrophy Pterygium Smooth philtrum Acanthosis nigricans Sandal gap Finger clinodactyly Decreased body weight Sparse scalp hair Epidermal acanthosis Broad nasal tip Delayed eruption of teeth Short foot Everted lower lip vermilion Inability to walk Short distal phalanx of finger Thin vermilion border Abnormality of eye movement Distal amyotrophy Steroid-resistant nephrotic syndrome Stage 5 chronic kidney disease Heterotopia Abnormal lung morphology Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Gliosis Nephropathy Bulbous nose Abnormality of skin pigmentation Platyspondyly Atherosclerosis Hip dislocation Corneal opacity Scarring Abnormality of the kidney Proteinuria Osteopenia Hypothyroidism Dementia Abnormality of the dentition Vomiting Cortical myoclonus Autoimmune neutropenia Opacification of the corneal stroma Hyperlipidemia Membranoproliferative glomerulonephritis Transient ischemic attack Multiple lentigines Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Azoospermia Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Reduced bone mineral density Vasculitis in the skin Allergic rhinitis Progressive cerebellar ataxia Athetosis Renal neoplasm Chromosome breakage Recurrent lower respiratory tract infections Hepatocellular carcinoma IgA deficiency Prematurely aged appearance Myeloid leukemia Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Premature graying of hair Glucose intolerance Spinal muscular atrophy Absent Achilles reflex Polycystic ovaries Slurred speech Breast carcinoma Cerebral palsy Oculomotor apraxia Truncal ataxia Abnormal vertebral morphology Limb ataxia Choreoathetosis Intention tremor Apraxia Hepatitis Chorea Abnormality of the testis Hypoplasia of the thymus Atopic dermatitis Interosseus muscle atrophy Recurrent skin infections Narrow palpebral fissure Inflammatory abnormality of the skin Eczema Sensory impairment Asthma Erythema Conductive hearing impairment Brachydactyly Sensorineural hearing impairment Defective B cell differentiation IgE deficiency Decreased/absent ankle reflexes Chronic lymphatic leukemia Immunoglobulin IgG2 deficiency Progressive spinal muscular atrophy Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Decreased proportion of CD4-positive T cells Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Chronic myelogenous leukemia Conjunctival telangiectasia Generalized hypopigmentation of hair



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Skeletal dysplasia, related diseases and genetic alterations Tremor and Hypodontia, related diseases and genetic alterations Myopathy and Vertigo, related diseases and genetic alterations Ptosis and Low-set ears, related diseases and genetic alterations

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