Edema, and Paresthesia

Diseases related with Edema and Paresthesia

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

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency|protoporphyria, erythropoietic|heme synthetase deficiency|erythrohepatic protoporphyria|epp

Related symptoms:

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


SOURCES: OMIM MENDELIAN

More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

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

Other less relevant matches:

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.

FAMILIAL COLD URTICARIA Is also known as fcas|familial cold autoinflammatory syndrome|fcu

Related symptoms:

  • Sensorineural hearing impairment
  • Fever
  • Fatigue
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL COLD URTICARIA

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

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Top 5 symptoms//phenotypes associated to Edema and Paresthesia

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Paresthesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Global developmental delay Migraine Spasticity Intellectual disability Pain Nystagmus Peripheral neuropathy Gait disturbance Gait ataxia

Rare Symptoms - Less than 30% cases

Cardiomyopathy Drowsiness Migraine with aura Erythema Episodic ataxia Pruritus Confusion Abdominal pain Transient unilateral blurring of vision Abnormal pyramidal sign Diplopia Urticaria Cholestasis Dehydration Hepatomegaly Polyneuropathy Dysarthria Myalgia Sensory neuropathy Dysphasia Tremor Vertigo Falls Hemiplegia Peripheral axonal neuropathy Dysesthesia Hemiparesis Coma Developmental regression Abnormal cerebellum morphology Muscle cramps Chest pain Hyperkalemia EMG abnormality Generalized hypotonia Muscular edema Blepharospasm Myotonia Skeletal muscle hypertrophy Ophthalmoparesis Personality disorder Dyspnea Severe hearing impairment Apraxia Intention tremor Tinnitus Loss of consciousness Aphasia Blurred vision Restlessness Elevated serum creatine phosphokinase Phonophobia Borderline personality disorder Migraine without aura Cerebellar atrophy Dysphagia Myopathy Hypertonia Motor delay Lower limb muscle weakness Anxiety Myoclonus Papilledema Drusen Restrictive cardiomyopathy Albuminuria Renal amyloidosis Generalized amyloid deposition Strabismus Muscular hypotonia Optic atrophy Intellectual disability, severe Hyperkeratosis Amyloidosis Autism Hypertrophic cardiomyopathy Abnormality of extrapyramidal motor function Telangiectasia Lymphedema Cerebral visual impairment Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Generalized amyotrophy Telangiectasia of the skin Optic neuropathy Nephrotic syndrome Retinal degeneration Arthritis Psychosis Hallucinations Agitation Visual hallucinations Dyscalculia Psychotic episodes Sensorineural hearing impairment Fatigue Hyperhidrosis Arthralgia Nausea and vomiting Hematuria Conjunctivitis Polydipsia Neoplasm Hypertension Splenomegaly Glaucoma Weight loss Hepatosplenomegaly Proteinuria Skin rash Nephropathy Auditory hallucinations Intellectual disability, mild Nausea Acute hepatic failure Abnormal blistering of the skin Eczema Cutaneous photosensitivity Tetraparesis Hypertriglyceridemia Inflammatory abnormality of the skin Decreased liver function Cholelithiasis Microcytic anemia Cholecystitis Hepatic failure Diarrhea Congestive heart failure Arrhythmia Constipation Abnormal cardiac septum morphology Atrial fibrillation Exercise intolerance EMG: myopathic abnormalities Impotence Hemolytic anemia Scarring Orthostatic hypotension Axonal degeneration Distal amyotrophy Distal sensory impairment Neutropenia Sensory impairment Peripheral demyelination Frequent falls Glomerulosclerosis Steppage gait Focal segmental glomerulosclerosis Decreased number of peripheral myelinated nerve fibers Abnormality of the liver Onion bulb formation Sensory ataxia Segmental peripheral demyelination/remyelination Peripheral axonal degeneration Segmental peripheral demyelination Abnormality of the foot Anemia Thrombocytopenia Jaundice Pericardial effusion Exertional dyspnea Dysmetria Areflexia Clonus Paraparesis Spastic paraparesis Brisk reflexes Progressive spastic paraplegia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal dyskinesia Paroxysmal choreoathetosis Delayed speech and language development Choreoathetosis Cataract Blindness Vomiting Behavioral abnormality Depressivity Photophobia Intellectual disability, moderate Autistic behavior Stroke Involuntary movements Hyporeflexia Heart block Orthostatic syncope Edema of the lower limbs Right ventricular hypertrophy Reduced ejection fraction Abnormal echocardiogram Atrial arrhythmia Biventricular hypertrophy Peripheral edema Cardiac amyloidosis Abnormal ventricular filling Limb muscle weakness Postural instability Distal muscle weakness Cognitive impairment Hyperreflexia Dystonia Pes cavus Babinski sign Spastic paraplegia Generalized tonic-clonic seizures Paraplegia Dyskinesia Abnormality of brainstem morphology


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