Lymphoma, and Peripheral axonal neuropathy

Diseases related with Lymphoma and Peripheral axonal neuropathy

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

Top matches:

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

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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

Other less relevant matches:

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

Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

HEREDITARY ANGIOEDEMA TYPE 1 Is also known as hae 1|angioneurotic edema, hereditary|hereditary angioneurotic edema type 1|hae-i|hane|c1 esterase inhibitor, deficiency of

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Dysphagia
  • Respiratory distress
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY ANGIOEDEMA TYPE 1

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Classic Hodgkin lymphoma is a lymph node cancer of germinal center B-cell origin. Hodgkin lymphoma tumors consist of a minority of malignant cells, known as 'Reed-Sternberg' (RS) cells, mixed with reactive lymphocytes and other benign inflammatory cells. A defining feature of RS cells is the presence of 2 nuclei (summary by Salipante et al., 2009).

LYMPHOMA, HODGKIN, CLASSIC; CHL Is also known as hodgkin disease

Related symptoms:

  • Ataxia
  • Neoplasm
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LYMPHOMA, HODGKIN, CLASSIC; CHL

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN, see this term) characterized by a sustained elevation of platelet number (> 450 x 109/L) with a tendency for thrombosis and hemorrhage.

ESSENTIAL THROMBOCYTHEMIA Is also known as thrombocytosis 1|essential thrombocytosis|et

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system
  • Respiratory distress


SOURCES: ORPHANET OMIM MENDELIAN

More info about ESSENTIAL THROMBOCYTHEMIA

Top 5 symptoms//phenotypes associated to Lymphoma and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Paresthesia Common - Between 50% and 80% cases
Leukemia Common - Between 50% and 80% cases
Weight loss Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Lymphoma and Peripheral axonal neuropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Peripheral demyelination Hyporeflexia Areflexia Seizures Splenomegaly Hearing impairment Neoplasm Hepatomegaly Ataxia Pruritus Hodgkin lymphoma Bruising susceptibility Sensory neuropathy Polyneuropathy Foot dorsiflexor weakness Axonal degeneration Vomiting Headache Scoliosis Muscle weakness Neurofibromas Dysarthria Respiratory insufficiency Cardiomyopathy Hydrocephalus Intellectual disability Skeletal muscle atrophy Visual impairment Nystagmus Fever Edema Global developmental delay

Rare Symptoms - Less than 30% cases

Abnormality of skin pigmentation Genu valgum Malabsorption Osteopenia Pulmonic stenosis Abnormality of the cardiovascular system Erythema Paralysis Hypertrophic cardiomyopathy Migraine Abnormality of the eye Abnormal heart morphology Kyphoscoliosis Cafe-au-lait spot Depressivity Abnormality of cardiovascular system morphology Tremor Behavioral abnormality Blindness Atrial septal defect Macrocephaly Hypertension Delayed speech and language development Ptosis Coarctation of aorta Venous thrombosis Bone pain Diarrhea Segmental peripheral demyelination/remyelination Axonal loss Fatigue Decreased number of peripheral myelinated nerve fibers Decreased motor nerve conduction velocity Hammertoe Generalized hypotonia Hoarse voice Constrictive median neuropathy Dysphagia Respiratory distress Pes cavus Short stature Strabismus Dyspnea Anemia Hypotension Vasculitis Congestive heart failure Multiple myeloma Gangrene Constipation Multiple cafe-au-lait spots Hyperhidrosis Back pain Hypertelorism Autism Abnormality of the skeletal system Cerebral hemorrhage Sleep apnea Hyperpigmentation of the skin Chest pain Gastrointestinal hemorrhage Generalized hyperpigmentation Sensory axonal neuropathy Melanocytic nevus Malnutrition Decreased nerve conduction velocity Abnormality of vision Cranial nerve paralysis Cardiomegaly Delayed gross motor development Hemiparesis Myocardial infarction Abnormal bleeding Poor appetite Hepatosplenomegaly Abnormality of movement Lymphadenopathy Thrombocytopenia Paraplegia Falls Demyelinating peripheral neuropathy Cutaneous T-cell lymphoma Functional abnormality of the gastrointestinal tract Abnormality of the auditory canal Inappropriate crying Tongue thrusting Abnormality of the sternum Heart murmur Morphological abnormality of the gastrointestinal tract Abnormality of the hairline Hyperkeratosis pilaris Onion bulb formation Eyelid fasciculation Long palpebral fissure Puberty and gonadal disorders Abnormal location of ears Absent eyebrow Multiple palmar creases Multiple plantar creases Chronic otitis media Aplasia/Hypoplasia of the eyebrow Large for gestational age Open bite Abnormality of the foot Limb muscle weakness Distal muscle weakness Apnea Distal sensory impairment Ectropion Hydroureter Motor delay Distal amyotrophy Delayed myelination Split hand Progressive muscle weakness Pleural effusion Neurodevelopmental delay Cubitus valgus Infantile spasms Steppage gait Oral aversion Abnormal heart valve morphology Abnormality of the optic nerve Laryngeal cleft Abnormality of the gastrointestinal tract Abnormal eyelash morphology Abnormal mitral valve morphology Arnold-Chiari type I malformation Enlarged kidney Gastrointestinal dysmotility Absent eyelashes Deep palmar crease Hypoplasia of the zygomatic bone Premature skin wrinkling Failure to thrive in infancy Abnormality of the ulna Hypopnea Thickened helices Short attention span Bilateral ptosis Woolly hair Thick upper lip vermilion Abnormality of refraction Sparse eyebrow Abnormal myocardium morphology Abnormal hair pattern Scaling skin Dystrophic fingernails Delayed CNS myelination Slow-growing hair Subvalvular aortic stenosis Generalized ichthyosis Multiple lentigines Hypoplasia of the frontal lobes Biparietal narrowing Optic nerve dysplasia Patchy alopecia Abnormality of the testis Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Alopecia of scalp Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Curly hair Submucous cleft hard palate Anal stenosis Abnormal aortic valve morphology Underdeveloped supraorbital ridges Atopic dermatitis Obsessive-compulsive behavior Abnormal tricuspid valve morphology Inspiratory stridor Axonal regeneration Restrictive cardiomyopathy Cough Skin rash Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Stroke-like episode Increased CSF protein Bone marrow hypocellularity Syringomyelia Amyloidosis Orthostatic hypotension Aphasia Impotence Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Hallucinations Bilateral sensorineural hearing impairment Anorexia Osteolysis Urinary incontinence Acute leukemia Abnormal platelet aggregation Decreased mean platelet volume Abnormal platelet morphology Bloody diarrhea Myelofibrosis Abnormality of bone marrow cell morphology Amaurosis fugax Myeloproliferative disorder Impaired platelet aggregation Abnormal thrombocyte morphology Arterial thrombosis Abnormality of the cerebral vasculature Acrocyanosis Hemoptysis Transient ischemic attack Thrombocytosis Pulmonary embolism Myeloid leukemia Prolonged bleeding time Leukocytosis Myelodysplasia Vertigo Polyclonal elevation of IgM Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Lung adenocarcinoma Cellular immunodeficiency Neuronal loss in central nervous system Gliosis Ulnar claw Vocal cord paralysis Urticaria Systemic lupus erythematosus Polycystic ovaries Nausea Autoimmunity Abdominal pain Abnormality of metabolism/homeostasis Brachial plexus neuropathy Myelin tomacula Vocal cord paresis Abnormal myelination Low back pain Abnormality of the voice Stridor Tetraparesis Hypotelorism Generalized muscle weakness Muscle cramps Inability to walk Confusion Abnormality of the nervous system Myoclonus Cold-induced muscle cramps Progressive distal muscular atrophy Abnormal nervous system electrophysiology Myelin outfoldings Hypertrophic nerve changes Glomerulonephritis Upper airway obstruction Coma Tongue edema Nephropathy Facial palsy Arthritis Dementia Arrhythmia Renal insufficiency Spasticity Sensorineural hearing impairment Abnormality of salivation Limbal edema Laryngeal edema Abnormal epiglottis morphology Abnormality of the uvula Lymphoproliferative disorder Intestinal edema Pharyngeal edema Abnormal respiratory system morphology Abnormal soft palate morphology Cryoglobulinemia Edema of the dorsum of hands Dermatographic urticaria Facial edema Angioedema Redundant skin Chronic lymphatic leukemia Ovarian cyst Abnormality of the larynx Brittle hair Joint hypermobility Deep philtrum Breast carcinoma Overweight Severe vision loss Renal cell carcinoma Osteomalacia Freckling Tibial bowing Pulmonary fibrosis Hypophosphatemia Clitoral hypertrophy Precocious puberty Sarcoma Incoordination Reduced bone mineral density Meningioma Atherosclerosis Spina bifida Sensorimotor neuropathy Aganglionic megacolon Hypsarrhythmia Mitral valve prolapse Tetralogy of Fallot Overgrowth Specific learning disability Recurrent fractures Facial asymmetry Attention deficit hyperactivity disorder Increased reactive oxygen species production Neoplasm of the endocrine system Hypoglycemia Renal phosphate wasting Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Schwannoma Myocardial fibrosis Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Autistic behavior Glaucoma Axillary freckling Neutropenia Leukopenia Skin ulcer Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Epistaxis Pancytopenia Abnormality of extrapyramidal motor function Bradykinesia Brain atrophy Parkinsonism Hypopigmentation of the skin Neurodegeneration Resting tremor Spastic paraplegia Developmental regression Mental deterioration Rigidity Photophobia Difficulty walking Jaundice Reduced visual acuity Recurrent respiratory infections Recurrent infections Immunodeficiency Cerebellar atrophy Gait disturbance Albinism Hypopigmentation of hair Hyperactivity Hypofibrinogenemia Osteoporosis Visual loss Dilatation Intellectual disability, mild Cognitive impairment Abnormal facial shape Generalized hypopigmentation of hair Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Oculogyric crisis Gingival bleeding Recurrent bacterial skin infections Macular hypoplasia Partial albinism Hypersplenism Progressive peripheral neuropathy Hemophagocytosis Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Renovascular hypertension Embryonal rhabdomyosarcoma Hyperextensible skin Astigmatism Full cheeks Abdominal distention Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Long face Ichthyosis Dry skin Hypotrichosis Vesicoureteral reflux Hypermetropia Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Neurological speech impairment Pectus carinatum Abnormal cardiac septum morphology Scarring Sparse hair Respiratory tract infection Irritability Feeding difficulties in infancy Abnormality of the kidney Nevus Intestinal malrotation Telecanthus Abnormality of the nail Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormality of the genitourinary system Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Narrow palate Aspiration Premature birth Cerebral visual impairment Lymphedema Thickened skin Decreased body weight Open mouth Inflammatory abnormality of the skin Fine hair Low posterior hairline Narrow forehead Progressive visual loss Growth hormone deficiency Webbed neck Dental malocclusion Low-set, posteriorly rotated ears Aggressive behavior Vestibular Schwannoma Micrognathia Frontal bossing Downslanted palpebral fissures Optic atrophy Myopia Epicanthus Depressed nasal bridge Feeding difficulties High palate Low-set ears Cryptorchidism Cataract Muscular hypotonia Failure to thrive Ventriculomegaly Growth delay Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neurofibrosarcoma Neuroma Ventricular septal defect Anteverted nares Hydronephrosis Alopecia EEG abnormality Umbilical hernia Coarse facial features Macrotia Gastroesophageal reflux High forehead Polyhydramnios Proptosis Hyperkeratosis Cerebral cortical atrophy Prominent forehead Posteriorly rotated ears Clinodactyly of the 5th finger Short neck Delayed skeletal maturation Inguinal hernia Encephalopathy Pectus excavatum Hernia Cerebral atrophy Malar flattening Long philtrum Short nose Kyphosis Hypertonia Abnormality of the dentition Intellectual disability, severe Increased megakaryocyte count


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