Hyperreflexia, and B-cell lymphoma

Diseases related with Hyperreflexia and B-cell lymphoma

In the following list you will find some of the most common rare diseases related to Hyperreflexia and B-cell lymphoma that can help you solving undiagnosed cases.

Top matches:

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

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

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

Other less relevant matches:

SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY Is also known as severe combined immunodeficiency due to coronin-1a deficiency|scid due to coro1a deficiency|scid due to coronin-1a deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO CORO1A DEFICIENCY

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

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

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

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

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

For a general phenotypic description and a discussion of genetic heterogeneity of Charcot-Marie-Tooth disease type 1, see CMT1B (OMIM ).CMT1A is the most common form of CMT. The average age of onset of clinical symptoms is 12.2 +/- 7.3 years. Slow nerve conduction velocity (NCV) less than 38 m/s is highly diagnostic and is a 100% penetrant phenotype independent of age ({36,39:Lupski et al., 1991, 1992}).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A Is also known as hereditary motor and sensory neuropathy ia|hmsn ia|charcot-marie-tooth neuropathy, type 1a|hmsn1a|charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Top 5 symptoms//phenotypes associated to Hyperreflexia and B-cell 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
Neoplasm Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and B-cell lymphoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Thrombocytopenia

Uncommon Symptoms - Between 30% and 50% cases

Immunodeficiency

Common Symptoms - More than 50% cases

Leukemia

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Depressed nasal bridge Pneumonia Hodgkin lymphoma Lymphopenia Bronchiectasis Scoliosis Global developmental delay Recurrent infections Motor delay Cognitive impairment Abnormality of chromosome stability Short neck Microcephaly Cafe-au-lait spot Strabismus Failure to thrive Seizures Cellular immunodeficiency Hypertension Splenomegaly Pancytopenia Neutropenia Macrotia Hyperlordosis Astigmatism Lumbar hyperlordosis Fine hair Diarrhea Aplastic anemia Recurrent urinary tract infections Telangiectasia Cardiomyopathy Bone marrow hypocellularity Non-Hodgkin lymphoma Lymphoproliferative disorder Abnormal form of the vertebral bodies Decreased antibody level in blood Myeloid leukemia Multiple cafe-au-lait spots Recurrent respiratory infections Muscle weakness Skeletal muscle atrophy Combined immunodeficiency Abnormality of the foot Severe short stature Intrauterine growth retardation Hearing impairment Ataxia Epicanthus Hepatomegaly Carcinoma Abnormality of the skeletal system Frontal bossing Abnormal facial shape Fever

Rare Symptoms - Less than 30% cases

Sleep apnea Sinusitis Abnormality of the hair Limited elbow extension Reduced tendon reflexes Dysgammaglobulinemia Acute lymphoblastic leukemia Abnormal cerebellum morphology Chronic myelogenous leukemia Decreased proportion of CD4-positive T cells Epiphyseal dysplasia Recurrent bronchitis Generalized hypotonia Polyneuropathy Cerebellar atrophy Apnea Otitis media Flexion contracture Abnormality of the nervous system Peripheral neuropathy Gait disturbance Gastroesophageal reflux Spondyloepiphyseal dysplasia Abnormal lung morphology Macrocephaly Delayed speech and language development Respiratory tract infection Distal muscle weakness Distal amyotrophy Muscular hypotonia Encephalitis Neuroblastoma Convex nasal ridge Pectus carinatum Malabsorption Mucopolysacchariduria Joint hyperflexibility Micromelia Generalized joint laxity Joint hypermobility Anal stenosis Neonatal short-limb short stature Deep philtrum Abnormality of the metaphysis Tibial bowing Abnormality of epiphysis morphology Rhizomelia Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Sparse hair Abnormal T cell morphology Genu varum Recurrent sinopulmonary infections Myopia Anteverted nares Respiratory insufficiency Vasculitis Falls Hepatosplenomegaly Respiratory failure Lymphadenopathy Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder Dilatation Prominent forehead Hyperactivity Hypopnea Skeletal dysplasia Joint laxity Hypoplastic anemia Recurrent pneumonia Scarring Hypothyroidism Atrial septal defect Congestive heart failure Abnormal eyelid morphology Chromosome breakage Hearing abnormality Renal insufficiency Headache Abnormality of cardiovascular system morphology Hypospadias Squamous cell carcinoma Upslanted palpebral fissure Glucose intolerance Diabetes mellitus Weight loss Reduced bone mineral density Abnormality of the testis Abnormality of the kidney Azoospermia Postnatal growth retardation Abnormality of the liver Abnormal cardiac septum morphology Abnormal vertebral morphology Small for gestational age Aganglionic megacolon Choanal atresia Hip dislocation Sloping forehead Hypopigmentation of the skin Bruising susceptibility Abnormality of skin pigmentation Hydrocephalus Anal atresia Cleft palate Respiratory distress Cryptorchidism Ptosis Visual impairment Ventriculomegaly Abnormality of femur morphology Micrognathia Nystagmus Hypertelorism Medulloblastoma Steppage gait Freckling Glioma Decreased motor nerve conduction velocity Acute leukemia Autoimmune hemolytic anemia Abnormality of the musculature Disproportionate short stature Abnormality of neuronal migration Long nose Non-midline cleft lip Neurofibromas Rhabdomyosarcoma Decreased number of peripheral myelinated nerve fibers Premature ovarian insufficiency Axonal loss Abnormal nervous system electrophysiology Cachexia Low anterior hairline Clonus Chronic diarrhea Short toe T-cell lymphoma Abnormal hair quantity Epidermal acanthosis Foot dorsiflexor weakness Delayed gross motor development Dementia Kyphosis Abnormality of the dentition Vomiting Decreased nerve conduction velocity Progressive vitiligo Overgrowth Mastoiditis Hammertoe Decrease in T cell count Tetraparesis Malar prominence Osteoarthritis Recurrent otitis media Penoscrotal hypospadias Progressive distal muscular atrophy Anorectal anomaly Recurrent infection of the gastrointestinal tract Primary amenorrhea Pollakisuria B lymphocytopenia Abnormality of the face Prominent nose Cutaneous photosensitivity Communicating hydrocephalus Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Central apnea Dysuria Upper airway obstruction Axonal regeneration Ulnar claw Short long bone Tinnitus Myelin outfoldings Thoracolumbar kyphosis Hypertrophic nerve changes Back pain Osteopetrosis Megalencephaly Spinal cord compression Chronic otitis media Obstructive sleep apnea Flared metaphysis Short femoral neck Abnormality of the elbow Spinal canal stenosis Hip contracture Recurrent ear infections Central sleep apnea Amenorrhea Spinal stenosis with reduced interpedicular distance Bowel incontinence Neurodegeneration Onion bulb formation Hemolytic anemia Cleft upper lip Prominent nasal bridge Mental deterioration Intellectual disability, moderate Hydronephrosis Retrognathia Lumbar kyphosis in infancy Myelitis Paraparesis Cervical myelopathy Trident hand Limited hip extension Osteopenia Childhood onset short-limb short stature Acanthosis nigricans Small foramen magnum Infantile muscular hypotonia Iritis Cervical cord compression Demyelinating peripheral neuropathy Segmental peripheral demyelination/remyelination Obstructive lung disease Brain stem compression Bilateral ptosis Progressive muscle weakness Lateral displacement of the femoral head Pectus excavatum Decreased muscle mass Long philtrum Myopathy Neurodevelopmental delay Abnormal eyebrow morphology Facial hypotonia Edema Downslanted palpebral fissures Optic atrophy Feeding difficulties Low-set ears Hydrocele testis Short attention span Nephrosclerosis Overfolded helix Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormality of the spleen Hypochromic microcytic anemia Chylothorax Abnormal immunoglobulin level Encephalomalacia Prominent fingertip pads Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Hypoplasia of the capital femoral epiphysis Proximal placement of thumb Cubitus valgus Broad toe Wide intermamillary distance Cholelithiasis Poor suck Bicuspid aortic valve Torticollis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Lymphedema Hyperpigmentation of the skin Mitral regurgitation Low posterior hairline Epistaxis Cyanosis Hip dysplasia Esotropia Inguinal hernia Hypermetropia Abnormality of the thorax Posteriorly rotated ears Polyhydramnios High forehead Feeding difficulties in infancy Broad forehead Pulmonic stenosis Webbed neck Thick vermilion border Highly arched eyebrow Ascites Triangular face Abnormal bleeding Pleural effusion Arteriosclerosis Monocytosis Thin upper lip vermilion Areflexia Reduced prothrombin activity Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Premature birth Migraine Brain atrophy Gliosis Nephropathy Bulbous nose Reduced factor X activity Abnormality of the subarachnoid space Stage 5 chronic kidney disease Opacification of the corneal stroma Sensory neuropathy Proteinuria Split hand Peripheral demyelination Failure to thrive in infancy Delayed myelination Autoimmunity Stroke Hyporeflexia Corneal opacity Platyspondyly Distal sensory impairment Limb muscle weakness Kyphoscoliosis Pes cavus Heterotopia Atherosclerosis Right ventricular cardiomyopathy Glomerulopathy Sleep disturbance Dentinogenesis imperfecta Pulmonary lymphangiectasia Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Disproportionate short-trunk short stature Ovoid vertebral bodies Arteritis Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Steatorrhea Juvenile myelomonocytic leukemia Nephritis Hyperlipidemia Reduced factor XII activity Coarse hair Chronic kidney disease Glomerulosclerosis Glomerulonephritis Hypoplasia of olfactory tract Hypermelanotic macule Melanocytic nevus Focal segmental glomerulosclerosis Reduced factor IX activity Emphysema High pitched voice Abnormality of the mediastinum Developmental regression Heart block Oral cleft Prolonged G2 phase of cell cycle Gait ataxia Myoclonus Dystonia Tremor Dysarthria Spasticity 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 Abnormal carotid artery morphology Elevated hepatic transaminase Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis 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 Difficulty walking Anxiety Abnormality of nervous system morphology Cerebral palsy Hypopigmentation of hair IgA deficiency Prematurely aged appearance Abnormality of the immune system Telangiectasia of the skin Aplasia/Hypoplasia of the skin Resting tremor Premature graying of hair Athetosis Spinal muscular atrophy Polycystic ovaries Slurred speech Breast carcinoma Oculomotor apraxia Neurological speech impairment Truncal ataxia Limb ataxia Choreoathetosis Intention tremor Type II diabetes mellitus Apraxia Hepatitis Chorea Progressive cerebellar ataxia Unsteady gait Abnormality of movement Abnormality of eye movement Delayed puberty Primary hypothyroidism Abnormal aortic morphology Severe combined immunodeficiency Finger syndactyly Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Abnormality of the genital system Short palpebral fissure Oligohydramnios Tetralogy of Fallot Renal agenesis Vertigo Facial asymmetry Toe syndactyly Dolichocephaly Irritability Type I diabetes mellitus Abnormality of the eye Hypertrophic cardiomyopathy Pes planus Umbilical hernia Proptosis Hypogonadism Clinodactyly of the 5th finger Abnormal heart morphology Patent ductus arteriosus Microphthalmia Fatigue High palate Cataract Horseshoe kidney Leukopenia Reticulocytopenia Aplasia/Hypoplasia of the radius Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna External ear malformation Irregular hyperpigmentation Absent radius Cranial nerve paralysis Abnormality of blood and blood-forming tissues Acute myeloid leukemia Absent thumb Hydroureter Ectopic kidney Hypoplasia of the ulna Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Hypopigmented skin patches Renal hypoplasia/aplasia Hepatocellular carcinoma Recurrent lower respiratory tract infections Confusion Abnormal bone ossification Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Severe T-cell immunodeficiency Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormally ossified vertebrae Congenital hypoplastic anemia Papilloma Spinal dysraphism Large face Hypersplenism Normocytic anemia Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Tracheal stenosis Pulmonary lymphoma Hepatic failure Upper limb undergrowth Hepatic necrosis Cleft lip Conductive hearing impairment Rigidity Arthralgia Obesity Midface retrusion Malar flattening Brachydactyly Pain Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Burkitt lymphoma Pure red cell aplasia Memory impairment Increased IgM level Chorioretinitis Granulomatosis Hepatic encephalopathy Histiocytosis Lymphocytosis Recurrent pharyngitis Immune dysregulation Agammaglobulinemia IgG deficiency Increased antibody level in blood Sarcoma Meningitis Hemiparesis Fair hair Overweight Renal neoplasm Immunoglobulin IgG2 deficiency Narrow chest Hypotrichosis Arthrogryposis multiplex congenita EEG abnormality Brachycephaly Alopecia Constipation Delayed skeletal maturation Wide nasal bridge Defective B cell differentiation IgE deficiency Interosseus muscle atrophy Decreased/absent ankle reflexes Progressive spinal muscular atrophy Small hand Mucosal telangiectasiae Aplasia/Hypoplasia of the thymus Increased sensitivity to ionizing radiation Female hypogonadism Chronic hepatitis Elevated alpha-fetoprotein Abnormal spermatogenesis Neoplasm of the breast Conjunctival telangiectasia Chronic lymphatic leukemia Hypoplasia of the thymus Absent Achilles reflex Spinocerebellar tract degeneration Short palm Postural instability Thrombocytosis Metaphyseal widening Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Femoral bowing Mesomelia Short thorax Cone-shaped epiphysis Portal hypertension Gastrointestinal hemorrhage Sacral dimple Abnormal palate morphology Neoplasm of the skin Accelerated skeletal maturation Sparse eyelashes Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Bowing of the long bones Depressed nasal ridge Blue sclerae Abnormality of the ribs Cold-induced muscle cramps


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