Fever, and Urinary incontinence

Diseases related with Fever and Urinary incontinence

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

Top matches:

Congenital indifference to pain is a rare autosomal recessive disorder characterized by the complete absence of pain perception typically associated with noxious stimuli. Affected individuals are aware of a stimulus, but have lost the ability to perceive pain. Most patients are hyposmic or anosmic. Other sensory modalities are unaffected, and there is an absence of overt autonomic symptoms. Sural nerve biopsy and nerve conduction velocity studies are normal (summary by Cox et al., 2006; and Goldberg et al., 2012).Hereditary sensory and autonomic neuropathy type IID (HSAN2D) is an autosomal recessive disorder characterized by congenital or childhood-onset distal loss of pain and temperature sensation as well as autonomic dysfunction accompanied by hyposmia, hearing loss, hypogeusia, and sometimes bone dysplasia. The phenotype is highly variable, even within families. Two Japanese families have been reported (summary by Yuan et al., 2013).For a discussion of genetic heterogeneity of HSAN, see HSAN1 (OMIM ).

INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP Is also known as congenital analgesia, autosomal recessive|insensitivity to pain, channelopathy-associated|asymbolia for pain

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE; CIP

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.

KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset|park9|pallidopyramidal degeneration with supranuclear upgaze paresis and dementia|krppd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about KUFOR-RAKEB SYNDROME

Other less relevant matches:

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

High match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

Medium match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4 Is also known as hsan iv|hsan4|cip-anhidrosis syndrome|neuropathy, congenital sensory, with anhidrosis|hereditary sensory and autonomic neuropathy type iv|hereditary sensory and autonomic neuropathy iv|familial dysautonomia, type ii|congenital insensitivity to pain-anhidr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 4

Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment.

ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY Is also known as adld|adult-onset autosomal dominant demyelinating leukodystrophy|pelizaeus-merzbacher disease, autosomal dominant or late-onset type, formerly

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET AUTOSOMAL DOMINANT LEUKODYSTROPHY

Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

Top 5 symptoms//phenotypes associated to Fever and Urinary incontinence

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Urinary incontinence. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal autonomic nervous system physiology Dysphagia Generalized hypotonia Ataxia Spasticity Cognitive impairment Dysarthria Tremor Headache Bowel incontinence Constipation Gait disturbance Vomiting Areflexia Peripheral demyelination Sensorineural hearing impairment Pseudobulbar paralysis Global developmental delay Mental deterioration Stroke-like episode Paraplegia Stroke Confusion Orthostatic hypotension Impotence Hypoglycemia Difficulty walking Cerebral cortical atrophy Nystagmus Hyperreflexia Atrioventricular block Fatigue Hypertonia Depressivity Behavioral abnormality Babinski sign Personality changes Hypotension Hemiparesis Renal insufficiency Cardiomyopathy Intellectual disability, mild Hyporeflexia Hyperhidrosis Congestive heart failure Hypohidrosis Heat intolerance Anhidrosis Arrhythmia Facial palsy Apathy Paraparesis Hypertension Dementia Dilatation Nephropathy Generalized muscle weakness Myopathy Myalgia

Rare Symptoms - Less than 30% cases

Cardiomegaly Cerebral hemorrhage Diarrhea Migraine Aphasia Gliosis Amyloidosis Abnormal renal physiology Arthritis Restrictive cardiomyopathy Malabsorption Coma Paresthesia Peripheral axonal neuropathy Spastic paraparesis Orthostatic hypotension due to autonomic dysfunction Developmental regression Encephalopathy Respiratory insufficiency due to muscle weakness Proximal muscle weakness Hypertrophic cardiomyopathy Limb muscle weakness Abnormality of the cardiovascular system Ventricular hypertrophy Progressive muscle weakness Delayed gross motor development Respiratory insufficiency Emphysema Shortened PR interval Hyperkeratosis Corneal opacity Abnormality of the cerebral white matter Easy fatigability Spontaneous abortion Dyspnea Skeletal muscle atrophy Visual loss Myocardial infarction Elevated serum creatine phosphokinase EEG abnormality Lower limb muscle weakness Vertigo Nausea Sensory neuropathy Tetraparesis Spastic tetraparesis Ptosis Atherosclerosis Leukoencephalopathy Hemiplegia Impaired pain sensation Transient ischemic attack Diffuse leukoencephalopathy Scoliosis Visual impairment Short stature Stage 5 chronic kidney disease Pain insensitivity Hallucinations Bradykinesia Proteinuria Brain atrophy Hematuria Cryptorchidism Urinary retention Neurogenic bladder Anosmia Wolff-Parkinson-White syndrome Intellectual disability Psychosis Abnormality of extrapyramidal motor function Polydipsia Hepatomegaly Abnormality of the eye Abnormality of eye movement Rigidity Clubbing Abnormal pyramidal sign Hyposmia Decreased number of peripheral myelinated nerve fibers Polyuria Recurrent corneal erosions Keratitis Periorbital fullness Cavernous hemangioma Abnormality of femur morphology Restrictive deficit on pulmonary function testing Proximal muscle weakness in lower limbs Abnormal mitral valve morphology Asymmetric septal hypertrophy Abnormality of the nose Abnormal myocardium morphology High-frequency hearing impairment Postural hypotension with compensatory tachycardia Exercise-induced myalgia Malignant hyperthermia Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Type 1 muscle fiber predominance Gastrointestinal dysmotility Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Areflexia of lower limbs Tubulointerstitial fibrosis Chronic pain Miosis T-wave inversion Myocardial fibrosis Abnormal aortic valve morphology Chronic fatigue Clubbing of fingers Sinus bradycardia Abnormality of the hand Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Loss of consciousness Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Heart murmur Glomerulosclerosis Prominent supraorbital ridges Macrocephaly at birth Chronic kidney disease Abnormality of the foot musculature Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Progressive sensorineural hearing impairment Celiac disease Achalasia Tubulointerstitial nephritis Chronic obstructive pulmonary disease Angina pectoris Peripheral arterial stenosis Reduced ejection fraction Proximal muscle weakness in upper limbs Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Edema of the lower limbs Telangiectasia of the skin Renal tubular dysfunction Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Glomerulopathy Neonatal asphyxia Limb pain Angiokeratoma Abnormality of temperature regulation Nail dystrophy Urinary urgency Progressive spasticity Nail dysplasia Action tremor Corpus callosum atrophy Atrophy of the spinal cord Diffuse white matter abnormalities Decreased antibody level in blood Carious teeth Autonomic bladder dysfunction Autonomic erectile dysfunction Leukodystrophy Cervical spinal cord atrophy Hip dislocation Dilatation of the bladder Decreased sweating due to autonomic dysfunction Irritability Hyperactivity Symmetric peripheral demyelination Purpura Recurrent infections Flexion contracture Motor delay Abnormality of the urinary system Limb ataxia Cornea verticillata Poor wound healing Autoamputation of digits Neuropathic arthropathy Acral ulceration Palmar hyperkeratosis Corneal ulceration Abnormality of dental color Abnormal cerebellum morphology Hypotrichosis of the scalp Corneal scarring Lichenification Lack of skin elasticity Progressive neurologic deterioration Self-mutilation Aseptic necrosis Episodic fever Osteomyelitis Emotional lability Self-injurious behavior Opacification of the corneal stroma Skin ulcer Thickened skin Progressive cerebellar ataxia Febrile seizures Pes cavus Abnormal glomerular filtration rate Nephrogenic diabetes insipidus Thin ribs Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Generalized amyotrophy Coronary artery stenosis Decreased lacrimation Muscle fibrillation Angiokeratoma corporis diffusum Centrally nucleated skeletal muscle fibers Impaired renal concentrating ability Shortened QT interval Hyposthenuria Drowsiness Impaired temperature sensation Obstructive lung disease Decreased number of small peripheral myelinated nerve fibers Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Mildly elevated creatine phosphokinase Large for gestational age Abnormality of the common coagulation pathway Falls Increased glomerular filtration rate Increased carotid artery intimal medial thickness Polyhydramnios Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Ophthalmoplegia Decreased fetal movement Calf muscle hypertrophy Open mouth Frequent falls External ophthalmoplegia EMG: myopathic abnormalities Pyloric stenosis Tortuosity of conjunctival vessels Hyperkeratotic papule Ophthalmoparesis Abnormality of the forehead Skeletal muscle hypertrophy Abnormality of glycosphingolipid metabolism Hyperlipidemia Type II diabetes mellitus Aminoaciduria Psychotic episodes Lingual dystonia Eyelid apraxia Hyperactive patellar reflex Upgaze palsy Difficulty in tongue movements Cerebellar cortical atrophy Abnormality of higher mental function Stooped posture Leg muscle stiffness Oculogyric crisis Weight loss Hyperreflexia in upper limbs Vertical supranuclear gaze palsy Anarthria Vacuolated lymphocytes Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Upper motor neuron dysfunction Supranuclear gaze palsy Short attention span Diffuse cerebral atrophy Hydrocephalus Polyneuropathy Hypomimic face Sensory ataxia Inability to walk Dysmetria Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Pallor Delayed speech and language development Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Psychomotor deterioration Myelopathy Neuronal loss in central nervous system Constrictive median neuropathy Multiple myeloma Increased CSF protein Syringomyelia Axonal degeneration Malnutrition Rheumatoid arthritis Cachexia Vasculitis Bilateral sensorineural hearing impairment Visual hallucinations Slow saccadic eye movements Abnormality of the skin Hydroureter Urethral obstruction Enuresis nocturna Mild proteinuria Urethral stenosis Facial grimacing Pyelonephritis Enuresis Dysuria Keratoconjunctivitis sicca Acute kidney injury Recurrent urinary tract infections Encopresis Vesicoureteral reflux Sepsis Hydronephrosis Abnormal facial shape Painless fractures due to injury Acetabular dysplasia Steppage gait Recurrent fractures Hepatic failure Elevated hepatic transaminase Urethral valve Abnormal facial expression Abnormality of finger Parkinsonism Blepharospasm Pulmonary embolism Lower limb hyperreflexia Hypokinesia Global brain atrophy Mask-like facies Akinesia Torticollis Intention tremor Chorea Postural instability Nocturnal lagophthalmos Neurodegeneration Dyskinesia Distal sensory impairment Abnormality of the foot Lethargy Spastic paraplegia Aggressive behavior Myoclonus Cerebral atrophy Dystonia Tetraplegia Memory impairment Exercise intolerance Mandibular prognathia Prominent nasal bridge Cough Skin rash Abnormality of the kidney Abnormality of the nervous system Anxiety Carcinoma Coarse facial features Arthralgia Hypothyroidism Pruritus Abdominal pain Posteriorly rotated ears Midface retrusion Edema Optic atrophy Anemia Cataract Firm muscles Abnormal CNS myelination Abdominal wall muscle weakness Papule Nausea and vomiting Diaphragmatic paralysis Thick lower lip vermilion Fasciculations Bradycardia Lymphedema Anorexia Left ventricular hypertrophy Subcutaneous nodule Abnormal lung morphology Mitral regurgitation Palpitations Atrial fibrillation Nephrotic syndrome Delayed puberty Mitral valve prolapse Syncope Sudden cardiac death Chest pain Abdominal distention Muscle cramps Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Increased muscle fatiguability Pelvic girdle muscle weakness Truncal ataxia Abnormality of nervous system morphology Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Subcortical dementia Retinal arteriolar tortuosity Focal sensory seizure Amaurosis fugax Subcutaneous hemorrhage Mania Perseveration Migraine with aura Subdural hemorrhage Cerebral ischemia Varicose veins Abnormality of visual evoked potentials Optic neuropathy Bulbar palsy Scotoma Abnormal electroretinogram Cranial nerve paralysis Shock Recurrent pneumonia Scintillating scotoma Growth delay Progressive proximal muscle weakness Muscular dystrophy Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Nasal speech Macular degeneration Scapular winging EMG abnormality Aspiration Macroglossia Paralysis Failure to thrive Conductive hearing impairment Osteopenia Gastroesophageal reflux Acidosis Respiratory failure Recurrent respiratory infections Abnormality of metabolism/homeostasis Splenomegaly Feeding difficulties Muscular hypotonia Sleepy facial expression


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