Peripheral neuropathy, and Diarrhea

Diseases related with Peripheral neuropathy and Diarrhea

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

Top matches:

A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Motor delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7

Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).

FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY Is also known as lpl deficiency|anderson disease|andd|lipid transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Growth delay
  • Failure to thrive
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL LIPOPROTEIN LIPASE DEFICIENCY

Familial episodic pain syndrome with predominantly lower limb involvement is a subtype of familial episodic pain syndrome characterized by intense, episodic and/or cyclic pain mainly localized in the distal lower limbs (occasionally affecting upper limbs as well) which is triggered/exacerbated by fatigue, cold exposure and/or weather changes and alleviated with anti-inflammatory medication, that has a tendancy to diminish in frequency with age. Episodes usually occur late in the day, last 15-30 min and associate sweating and a cold sensation of affected area.

Related symptoms:

  • Neoplasm
  • Pain
  • Peripheral neuropathy
  • Fatigue
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL EPISODIC PAIN SYNDROME WITH PREDOMINANTLY LOWER LIMB INVOLVEMENT

Other less relevant matches:

Transplantation of hematopoietic stem cells is a successful therapy for some tumors derived from bone marrow precursors, such as certain leukemias and lymphomas, and it can be used to cure some primary immunodeficiencies and inherited hematopoietic stem-cell diseases. One of the major complications of allogeneic bone marrow transplantation is graft-versus-host disease (GVHD), in which mature donor T cells that contaminate the allogeneic bone marrow recognize the tissues of the recipient as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease. GVHD is particularly virulent when there is a mismatch of a major major histocompatibility complex (MHC) class I or class II antigen. Most transplants are therefore undertaken only when the donor and recipient are HLA-matched sibs or, less frequently, when there is an HLA-matched unrelated donor. However, GVHD also occurs in the context of disparities between minor histocompatibility antigens, and immunosuppression must be used in every stem-cell transplant (summary by Janeway et al., 2005).At the core of the immunogenetic basis for GVHD is the diversity of HLA, killer immunoglobulin-like receptors (KIRs; see {604936}), and cytokine genes. HLA class I molecules function as ligands for natural killer cell inhibitory KIRs, indicating that GVHD results from a complex interplay between innate and adaptive immune responses. Cytokines may modulate the intensity of tissue injury and inflammation in GVHD, and therefore cytokine polymorphisms in either patient or donor or both may explain individual risks of GVHD (review by Petersdorf and Malkki, 2006).

Related symptoms:

  • Diarrhea
  • Abnormality of the liver


SOURCES: ORPHANET OMIM MENDELIAN

More info about GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO; GVHDS

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Autosomal dominant beta 2-microglobulinic amyloidosis is a form of amyloidosis (see this term), characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin (D76N variant β2M) leading to progressive gastrointestinal dysfunction, Sjögren syndrome (see this term) and autonomic neuropathy.

VARIANT ABETA2M AMYLOIDOSIS Is also known as autosomal dominant beta2-microglobulinic amyloidosis

Related symptoms:

  • Constipation
  • Weight loss
  • Malabsorption
  • Vertigo
  • Gastrointestinal hemorrhage


SOURCES: ORPHANET MENDELIAN

More info about VARIANT ABETA2M AMYLOIDOSIS

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 MEDNIK SYNDROME

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MEDNIK SYNDROME

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

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Constipation Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Paresthesia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypocholesterolemia Steatorrhea Malabsorption Vomiting Cirrhosis Abnormal autonomic nervous system physiology Pain

Rare Symptoms - Less than 30% cases

Acanthocytosis Hepatic steatosis Fat malabsorption Keratoconjunctivitis sicca Xerostomia Muscle weakness EMG: myopathic abnormalities Abnormality of the liver Intrahepatic cholestasis Elevated hepatic transaminase Hyperhidrosis Cholestasis Areflexia Pruritus Intellectual disability Chronic constipation Gastrointestinal hemorrhage Orthostatic hypotension due to autonomic dysfunction Intermittent diarrhea Chronic axonal neuropathy Gastrointestinal dysmotility Autonomic bladder dysfunction Hepatomegaly Bowel incontinence Chronic diarrhea Erythroderma Vertigo Weight loss Abnormality of vitamin metabolism Osteoporosis Increased hepatocellular lipid droplets Impaired proprioception Hypertriglyceridemia Abdominal distention Retinopathy Myopathy Visual impairment Orthostatic syncope Abnormal ventricular filling Splenomegaly Rickets Jaundice Neonatal cholestatic liver disease Hepatic fibrosis Ichthyosis Erythema High forehead Hyperkeratosis Upslanted palpebral fissure Cataract Sensorineural hearing impairment Hearing impairment Global developmental delay Congenital sensorineural hearing impairment Hypocupremia Hepatosplenomegaly Acholic stools Giant cell hepatitis Biliary tract abnormality Peripheral edema Abnormality of coagulation Abnormality of the coagulation cascade Abnormal intestine morphology Hyperbilirubinemia Hepatitis Abnormal bleeding Hepatic failure Nyctalopia Cardiac amyloidosis Atrial fibrillation Biventricular hypertrophy Malnutrition Hypertension Anemia Muscular hypotonia Seizures Biliary cirrhosis Palpitations Fatigue Neoplasm Abetalipoproteinemia Decreased LDL cholesterol concentration Abnormality of blood and blood-forming tissues Impaired vibratory sensation Behavioral abnormality Failure to thrive in infancy Hypoalbuminemia Reduced tendon reflexes Decreased liver function Abnormality of the eye Rod-cone dystrophy Ataxia Pain insensitivity Axonal loss Joint dislocation Dystonia Motor delay Respiratory insufficiency Abdominal pain Atrial arrhythmia Arrhythmia Abnormal echocardiogram Reduced ejection fraction Right ventricular hypertrophy Edema of the lower limbs Heart block Exertional dyspnea Orthostatic hypotension Pericardial effusion Impotence Exercise intolerance Peripheral axonal neuropathy Abnormal cardiac septum morphology Congestive heart failure Tachycardia Cardiomyopathy Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Respiratory paralysis Motor axonal neuropathy Hyponatremia Hemiparesis Psychosis Polyneuropathy Sensory neuropathy Hemolytic anemia Decreased serum ceruloplasmin


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