Lymphoma, and Paraplegia

Diseases related with Lymphoma and Paraplegia

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


Top matches:

Medium match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Medium 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

Low match ACHONDROPLASIA; ACH


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

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Other less relevant matches:

Low match ATTRV30M AMYLOIDOSIS


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

Low match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Low match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


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

Low 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

Low match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Low match HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Low 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 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

Top 5 symptoms//phenotypes associated to Lymphoma and Paraplegia

Symptoms // Phenotype % cases
Anemia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Lymphoma and Paraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Fever Weight loss Peripheral demyelination Hepatomegaly Peripheral neuropathy Immunodeficiency Meningitis Thrombocytopenia Lymphadenopathy Generalized hypotonia Leukemia Areflexia Hyporeflexia Hepatosplenomegaly Scoliosis Hearing impairment Vasculitis Paresthesia Hydrocephalus Pancytopenia Sensory neuropathy Recurrent bacterial infections Cranial nerve paralysis Leukopenia Diarrhea Motor delay Tremor Intellectual disability Tetraparesis Recurrent urinary tract infections Abnormality of the nervous system Global developmental delay Confusion

Rare Symptoms - Less than 30% cases


Tetraplegia Muscular hypotonia Failure to thrive Renal insufficiency Albinism Cerebral hemorrhage Otitis media Cellular immunodeficiency Back pain Paraparesis Foot dorsiflexor weakness Arthritis Pure red cell aplasia Spasticity Sensorineural hearing impairment Increased antibody level in blood Skin rash Myelopathy Hypertriglyceridemia Gastroesophageal reflux Arthralgia Delayed speech and language development Pneumonia Hepatic failure Muscle weakness Short stature Obstructive lung disease Hypofibrinogenemia Partial albinism Hemophagocytosis Encephalitis Hodgkin lymphoma Hyperpigmentation of the skin Histiocytosis Neuroblastoma Hemiparesis Lymphopenia Visual impairment Recurrent infections Sepsis Abnormality of movement Peripheral axonal neuropathy Skeletal muscle atrophy Increased CSF protein Jaundice Falls Rigidity Chronic myelogenous leukemia Myeloid leukemia Nystagmus Constrictive median neuropathy Pleural effusion Sarcoma Paralysis Hyponatremia Gliosis Coma Polyneuropathy Axonal degeneration Burkitt lymphoma Adrenal insufficiency Intrauterine growth retardation Dilatation Cryptorchidism Brachial plexus neuropathy Myelin tomacula Segmental peripheral demyelination/remyelination Respiratory failure IgG deficiency Decreased antibody level in blood Memory impairment Bronchiectasis Bone marrow hypocellularity Amyloid deposition in the vitreous humor Cardiac amyloidosis Talipes equinovarus Agammaglobulinemia Vitreous floaters B-cell lymphoma Orthostatic hypotension due to autonomic dysfunction Aplastic anemia Immune dysregulation Recurrent pharyngitis Lymphocytosis Vocal cord paresis Hammertoe Abnormal myelination Overlapping fingers Hypoplastic spleen Radial club hand Esophageal stricture Hypergonadotropic hypogonadism Microphallus Achalasia Abnormal intestine morphology Chronic diarrhea Aspiration pneumonia Intracranial hemorrhage Myelodysplasia Adrenal hypoplasia Shawl scrotum Hepatic encephalopathy Rocker bottom foot Fatigue Respiratory insufficiency Low back pain Hypoglycemia Vocal cord paralysis Hypospadias Axonal loss Decreased motor nerve conduction velocity Hyperkalemia Patent ductus arteriosus Abnormality of the voice Decreased testicular size Pes cavus Hoarse voice Decreased body weight Hypotelorism Generalized muscle weakness Muscle cramps Inability to walk Myoclonus Petechiae Autoimmune neutropenia Granulomatosis Hypertonia Increased intracranial pressure Purpura Hyperbilirubinemia Aspiration Hemolytic anemia Abnormality of the liver Irritability Elevated hepatic transaminase Encephalopathy Small vessel vasculitis Hypoalbuminemia Episcleritis Immunologic hypersensitivity Complement deficiency Angioedema Inflammatory abnormality of the eye Uveitis Irregular hyperpigmentation Hemoptysis Glomerulopathy Eosinophilia Hemiplegia Pericardial effusion Prolonged prothrombin time Lipogranulomatosis Plasmacytosis Polyneuritis CSF pleocytosis Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Increased LDL cholesterol concentration Decreased HDL cholesterol concentration Abnormality of the coagulation cascade Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased serum ferritin Pulmonary infiltrates Severe combined immunodeficiency Episodic fever Combined immunodeficiency Abnormal heart valve morphology Restrictive ventilatory defect Chorioretinitis Spastic tetraplegia Impaired T cell function Recurrent viral infections Recurrent lower respiratory tract infections Autoimmune thrombocytopenia Autoimmune hemolytic anemia Spastic diplegia Recurrent upper respiratory tract infections Spastic tetraparesis Sinusitis Abnormal pyramidal sign Urinary retention Babinski sign Behavioral abnormality Fulminant hepatitis Reduced natural killer cell activity Pharyngitis Non-Hodgkin lymphoma Hepatic necrosis Dysgammaglobulinemia Increased IgM level Hypouricemia Abnormal T cell morphology Emphysema Nausea and vomiting Hemiplegia/hemiparesis Nephritis Urticaria Reduced tendon reflexes Cerebral palsy Joint dislocation Conjunctivitis Ascites Hematuria Pruritus Recurrent opportunistic infections Cough Autoimmunity Proteinuria Myalgia Dyspnea Abdominal pain Abnormality of B cell physiology Lymph node hypoplasia Brain abscess Cerebral vasculitis Psychomotor deterioration Congestive heart failure Sensory ataxia Abnormal leukocyte morphology Depressed nasal bridge Flexion contracture Growth delay 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 Oculogyric crisis Hyperreflexia Recurrent bacterial skin infections Macular hypoplasia Hypersplenism Progressive peripheral neuropathy Spinocerebellar tract degeneration White hair Generalized hypopigmentation Fair hair Hypertension Brachydactyly Gingivitis Apnea Lumbar hyperlordosis Overgrowth Sleep disturbance Oral cleft Micromelia Joint hyperflexibility Scarring Hyperlordosis Cleft lip Macrocephaly Conductive hearing impairment Skeletal dysplasia Severe short stature Obesity Midface retrusion Malar flattening Ventriculomegaly Abnormality of the skeletal system Frontal bossing Periodontitis Iris hypopigmentation Osteoarthritis Edema Abnormality of the eye Mental deterioration Photophobia Difficulty walking Reduced visual acuity Recurrent respiratory infections Cerebellar atrophy Atrial septal defect Gait disturbance Spastic paraplegia Strabismus Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Meningioma Acute lymphoblastic leukemia Leukocytosis Developmental regression Bruising susceptibility Gingival bleeding Amblyopia Hypopigmentation of hair Generalized hyperpigmentation Resting tremor Sensory axonal neuropathy Melanocytic nevus Decreased nerve conduction velocity Abnormality of vision Skin ulcer Cutaneous photosensitivity Neurodegeneration Epistaxis Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Brain atrophy Parkinsonism Abnormal bleeding Hypopigmentation of the skin Neutropenia Epidermal acanthosis Recurrent otitis media Abnormal renal physiology Dysarthria Malabsorption Facial palsy Dementia Constipation Arrhythmia Headache Vomiting Cardiomyopathy Lumbar kyphosis in infancy Urinary incontinence Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Nephropathy Migraine Hypopnea Malnutrition Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Aphasia Impotence Hypotension Rheumatoid arthritis Cachexia Atrioventricular block Spastic paraparesis Abnormal autonomic nervous system physiology Hallucinations Cardiomegaly Bilateral sensorineural hearing impairment Neuronal loss in central nervous system Cervical cord compression Cervical myelopathy Abnormal form of the vertebral bodies Disproportionate short-limb short stature Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Short long bone Limited elbow extension Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Clonus Short toe Rhizomelia Abnormal lung morphology Abnormality of the metaphysis Bowel incontinence Tibial bowing Central sleep apnea Dysuria Neonatal short-limb short stature Thoracolumbar kyphosis Recurrent ear infections Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Upper airway obstruction Disproportionate short stature Communicating hydrocephalus Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Abnormal natural killer cell physiology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Hirsutism, related diseases and genetic alterations Delayed speech and language development and Dolichocephaly, related diseases and genetic alterations

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