Edema, and Headache

Diseases related with Edema and Headache

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

Top matches:

Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

CONGENITAL FACTOR XII DEFICIENCY Is also known as hageman factor deficiency|f12 deficiency|congenital hageman factor deficiency|haf deficiency

Related symptoms:

  • Pain
  • Edema
  • Headache
  • Abdominal pain
  • Abnormal bleeding


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CONGENITAL FACTOR XII DEFICIENCY

DFNA34 is an autosomal dominant form of postlingual, slowly progressive sensorineural hearing loss with variable severity and variable additional features. Some patients have pure hearing loss without significant additional features, whereas some patients have features of an autoinflammatory disorder with systemic manifestations, including periodic fevers, arthralgias, and episodic urticaria. The disorder results from abnormally increased activation of the inflammatory pathway, and treatment with an IL1 receptor antagonist (see {147679}) may be effective if started early (summary by Nakanishi et al., 2017).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Fever
  • Edema
  • Headache


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION; DFNA34

Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000).Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2 ), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; {607115}), which shows earlier onset and a more severe phenotype. Genetic Heterogeneity of Familial Cold Autoinflammatory SyndromeSee also FCAS2 (OMIM ), caused by mutation in the NLRP12 gene (OMIM ) on chromosome 19q13; FCAS3 (OMIM ), caused by mutation in the PLCG2 gene (OMIM ) on chromosome 16q23; and FCAS4 (OMIM ), caused by mutation in the NLRC4 gene (OMIM ) on chromosome 2p22.

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 Is also known as cold urticaria, familial|fcas|cold hypersensitivity|caps1|fcu|cold-induced autoinflammatory syndrome, familial|cryopyrin-associated periodic syndrome 1

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Fever
  • Headache


SOURCES: OMIM MENDELIAN

More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1

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

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

Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Top 5 symptoms//phenotypes associated to Edema and Headache

Symptoms // Phenotype % cases
Fever Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Migraine Sensorineural hearing impairment Intellectual disability Global developmental delay Confusion Coma Urticaria Conjunctivitis Arthralgia Paresthesia

Rare Symptoms - Less than 30% cases

Behavioral abnormality Episodic ataxia Migraine with aura Abnormal cerebellum morphology Drowsiness Abdominal pain Cognitive impairment Diplopia Dysarthria Dysphasia Dehydration Hemiparesis Generalized tonic-clonic seizures Transient unilateral blurring of vision Generalized hypotonia Hemiplegia Arthritis Vomiting Cardiomegaly Gait ataxia Tremor Nystagmus Nausea Thromboembolism Cerebellar atrophy Myalgia Abnormality of the nervous system Neonatal hypotonia Myoclonus Muscular hypotonia of the trunk Optic atrophy Feeding difficulties Hypoplasia of the corpus callosum Cerebral atrophy Encephalopathy Abnormality of the kidney Microcephaly Tubular atrophy Hematuria Left ventricular hypertrophy Ragged-red muscle fibers Hypertrophic cardiomyopathy Proteinuria Pleural effusion Dyspnea Focal segmental glomerulosclerosis Glomerulopathy Diabetes mellitus Abnormal mitochondrial number Increased CSF lactate Abnormal renal physiology Tubulointerstitial fibrosis Abnormality of the eye Renal insufficiency Nephropathy Abnormal mitochondrial morphology Abnormal mitochondrial shape Global glomerulosclerosis Peripheral edema Status epilepticus Paralysis Exertional dyspnea Syncope Mitral valve prolapse Cholestasis Neoplasm of the skin Ischemic stroke Easy fatigability Heart murmur Tricuspid regurgitation Cerebral hemorrhage Dilatation of the cerebral artery Ascites Growth hormone excess Subarachnoid hemorrhage Edema of the lower limbs Pulmonary edema Endocarditis Orthopnea Increased inflammatory response Bacterial endocarditis Cardiac myxoma Chest pain Abnormality of skin pigmentation Abnormality of eye movement Back pain Brain atrophy Febrile seizures Epileptic encephalopathy Cerebral calcification Spastic tetraplegia Hypsarrhythmia Anemia Progressive microcephaly Slurred speech Language impairment Jaundice Hyponatremia Global brain atrophy Infantile spasms Atonic seizures Hyperventilation Megalencephaly Excessive daytime sleepiness Atrial septal defect Congestive heart failure Dilatation Hepatomegaly Personality disorder Short stature Spastic paraplegia Cold urticaria Spasticity Hyperreflexia Gait disturbance Dystonia Babinski sign Abnormal pyramidal sign Paraplegia Angioedema Dyskinesia Postural instability Choreoathetosis Involuntary movements Clonus Paraparesis Spastic paraparesis Brisk reflexes Renal amyloidosis Chills Morphological abnormality of the pyramidal tract Reduced factor XII activity Abnormal bleeding Myocardial infarction Venous thrombosis Deep venous thrombosis Allergy Prolonged partial thromboplastin time Arterial thrombosis Thrombophlebitis Retinal vein occlusion Episodic fever Prolonged whole-blood clotting time Lymphadenopathy Progressive hearing impairment Cervical lymphadenopathy Skin rash Leukocytosis Petechiae Amyloidosis Progressive spastic paraplegia Progressive spastic paraparesis Dysesthesia Visual hallucinations Migraine without aura Motor delay Anxiety Retinal degeneration Psychosis Hallucinations Agitation Auditory hallucinations Phonophobia Dyscalculia Psychotic episodes Fatigue Hyperhidrosis Erythema Pruritus Nausea and vomiting Polydipsia Borderline personality disorder Restlessness Paroxysmal dyskinesia Autistic behavior Paroxysmal choreoathetosis Delayed speech and language development Blindness Intellectual disability, mild Depressivity Photophobia Intellectual disability, moderate Developmental regression Stroke Severe hearing impairment Dysmetria Vertigo Apraxia Intention tremor Tinnitus Loss of consciousness Aphasia Blurred vision Pulmonic valve myxoma


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