Peripheral neuropathy, and Splenomegaly

Diseases related with Peripheral neuropathy and Splenomegaly

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


Top matches:

Low match HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY


Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia.

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Muscle weakness
  • Anemia
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO GLUCOPHOSPHATE ISOMERASE DEFICIENCY

Low match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1


Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1 Is also known as basd1|3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency

Related symptoms:

  • Failure to thrive
  • Peripheral neuropathy
  • Hepatomegaly
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 1

Low match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LYMPHOMA, HODGKIN, CLASSIC; CHL


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

Low match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Low match ESSENTIAL THROMBOCYTHEMIA


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

Low match FAMILIAL THROMBOCYTOSIS


Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and Splenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Hepatosplenomegaly Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Paresthesia Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pruritus Cholestasis Neoplasm Skin rash Chest pain Lymphoma Skeletal muscle atrophy Cardiomyopathy Ataxia Muscle weakness Edema Vertigo

Rare Symptoms - Less than 30% cases


Seizures Hyperhidrosis Tremor Pain Myelodysplasia Thrombocytosis Alopecia Fatigue Venous thrombosis Dysarthria Gangrene Hypertension Leukemia Lymphadenopathy Headache Arterial thrombosis Intellectual disability Transient ischemic attack Abnormality of the liver Cirrhosis Abnormal bleeding Hepatic failure Osteoporosis Jaundice Anemia Abnormality of the face Cerebral ischemia Gynecomastia Hyperpigmentation of the skin Limitation of joint mobility Visual field defect Acute myeloid leukemia Peripheral arterial stenosis Abnormal facial shape Chronic myelogenous leukemia Palmoplantar keratoderma Immunodeficiency Ascites Spontaneous abortion Thickened skin Hypotrichosis Dry skin Nail dystrophy Joint dislocation Pulmonary arterial hypertension Myeloproliferative disorder Acrocyanosis Chondrocalcinosis Acute leukemia Increased serum ferritin Abnormality of the cerebral vasculature Exocrine pancreatic insufficiency Hepatocellular carcinoma Abnormal thrombocyte morphology Impaired platelet aggregation Amaurosis fugax Syncope Abnormality of bone marrow cell morphology Myelofibrosis Arthropathy Bloody diarrhea Abnormal platelet morphology Decreased mean platelet volume Abnormal platelet aggregation Increased megakaryocyte count Impotence Hepatic steatosis Tics Retinopathy Personality disorder Anxiety Muscular dystrophy Dilated cardiomyopathy Ichthyosis Dyskinesia Phonic tics Chorea Abetalipoproteinemia Generalized-onset seizure Pneumonia Cardiomegaly Atrial fibrillation Aspiration EMG abnormality Obsessive-compulsive behavior Abnormality of the musculature Rhabdomyolysis Aspiration pneumonia Motor axonal neuropathy Myoclonus Congestive heart failure Acanthocytosis T-cell lymphoma Neoplasm of the skin Arthralgia Diabetes mellitus Ectropion Erythroderma Irregular hyperpigmentation Abnormality of the pleura Lichenification Abnormal lymphocyte morphology Elevated serum creatine phosphokinase Abnormal immunoglobulin level Cutaneous T-cell lymphoma Cognitive impairment Myopathy Hypogonadism Dystonia Depressivity Arrhythmia Areflexia Behavioral abnormality Papilledema Pulmonary embolism Cerebellar atrophy Giant cell hepatitis Acholic stools Neonatal cholestatic liver disease Global developmental delay Spasticity Motor delay Hyperreflexia Optic atrophy Talipes equinovarus Intellectual disability, mild Hypocholesterolemia Hyporeflexia Gait ataxia Reduced visual acuity Distal muscle weakness Distal sensory impairment Progressive cerebellar ataxia Sensory impairment Intention tremor Frequent falls Biliary tract abnormality Intrahepatic cholestasis Sensorimotor neuropathy Impaired neutrophil bactericidal activity Hemolytic anemia Hydrops fetalis Cholelithiasis Sensory ataxia Cholecystitis Nonspherocytic hemolytic anemia Pigment gallstones Decreased glucosephosphate isomerase activity Spontaneous hemolytic crises Failure to thrive Steatorrhea Diarrhea Elevated hepatic transaminase Nyctalopia Malabsorption Gastrointestinal hemorrhage Hepatitis Hyperbilirubinemia Rickets Abnormality of the coagulation cascade Abnormality of coagulation Hepatic fibrosis Foot dorsiflexor weakness Myeloid leukemia Restrictive cardiomyopathy Proteinuria Nephropathy Hematuria Polyneuropathy Nephrotic syndrome Urticaria Amyloidosis Optic neuropathy Drusen Albuminuria Abdominal pain Renal amyloidosis Generalized amyloid deposition Abnormality of the skeletal system Respiratory distress Dyspnea Bruising susceptibility Myocardial infarction Leukocytosis Prolonged bleeding time Glaucoma Hearing impairment Cerebellar vermis atrophy Migraine Progressive gait ataxia Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Respiratory insufficiency Cough Anorexia Polyclonal elevation of IgM Bone pain Bone marrow hypocellularity Osteolysis Hodgkin lymphoma Hemoptysis Poor appetite Cellular immunodeficiency Lung adenocarcinoma Monoclonal immunoglobulin M proteinemia Impaired lymphocyte transformation with phytohemagglutinin Abnormality of the hypothalamus-pituitary axis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hypogonadism, related diseases and genetic alterations Wide nasal bridge and Esotropia, related diseases and genetic alterations Lymphoma and Eczema, related diseases and genetic alterations Obesity and Short distal phalanx of finger, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more