Fever, and Corneal dystrophy

Diseases related with Fever and Corneal dystrophy

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

Top matches:

Low 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

MARSILI SYNDROME; MARSIS Is also known as congenital analgesia, autosomal dominant|insensitivity to pain, congenital, autosomal dominant

Related symptoms:

  • Pain
  • Fever
  • Headache
  • Hyporeflexia
  • Hyperhidrosis


SOURCES: OMIM MESH MENDELIAN

More info about MARSILI SYNDROME; MARSIS

Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5 Is also known as hsan v|insensitivity to pain, congenital|hsan5|congenital insensitivity to pain and thermal analgesia|hereditary sensory and autonomic neuropathy type v

Related symptoms:

  • Intellectual disability
  • Pain
  • Peripheral neuropathy
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 5

Other less relevant matches:

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

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

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

Yao syndrome is an autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms. The disorder is associated with specific NOD2 variants (Yao and Shen, 2017).

Related symptoms:

  • Pain
  • Fever
  • Diarrhea
  • Abdominal pain
  • Weight loss


SOURCES: OMIM MENDELIAN

More info about YAO SYNDROME; YAOS

Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK

Top 5 symptoms//phenotypes associated to Fever and Corneal dystrophy

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Hyperhidrosis Common - Between 50% and 80% cases
Hypohidrosis Uncommon - Between 30% and 50% cases
Keratoconjunctivitis sicca Uncommon - Between 30% and 50% cases
Anhidrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Keratitis Peripheral neuropathy Painless fractures due to injury Nephropathy Urinary incontinence Arthralgia Skin rash Renal insufficiency Diarrhea Hematuria Xerostomia Respiratory insufficiency Autoimmunity Arthritis Papule Proteinuria Pain insensitivity Episodic fever

Rare Symptoms - Less than 30% cases

Tachycardia Intellectual disability, mild Stage 5 chronic kidney disease Immunodeficiency Corneal scarring Seizures Ventricular hypertrophy Sensory neuropathy Elevated erythrocyte sedimentation rate Chest pain Growth delay Dry skin Bradycardia Abnormal autonomic nervous system physiology Polydipsia Areflexia Clubbing Glomerulopathy Generalized hypotonia Polyuria Short stature Thick vermilion border Uveitis Hyperkeratosis Hearing impairment Sensorineural hearing impairment Cataract Anemia Hypertension Abnormality of the forehead Edema Scarring Headache Dilatation Constipation Abdominal pain Impaired temperature sensation Hyporeflexia Myalgia Deeply set eye Pneumonia Hypoplastic nipples Rhinitis Anodontia Sparse lateral eyebrow Conical tooth Absent nipple Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Periorbital wrinkles Impaired thermal sensitivity Abnormal number of teeth Recurrent infections Erythema Agenesis of permanent teeth Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Hepatitis Decreased corneal reflex Abnormality of the common coagulation pathway Meningitis Functional abnormality of the gastrointestinal tract Abnormal glomerular filtration rate Cornea verticillata Systemic lupus erythematosus Glomerulonephritis Microscopic hematuria Facial erythema Intellectual disability Sparse eyelashes Absent eyebrow Malar flattening Abnormal ST segment Increased carotid artery intimal medial thickness Acroparesthesia Increased glomerular filtration rate Osteomyelitis Heavy proteinuria Prematurely aged appearance Impaired pain sensation Tenesmus Premature loss of teeth Self-mutilation Left ventricular septal hypertrophy Poor wound healing Abnormality of the gingiva Abnormal common carotid artery morphology Acral ulceration Decreased number of small peripheral myelinated nerve fibers Depressed nasal bridge Recurrent respiratory infections Respiratory tract infection Sparse hair Hypotrichosis Abnormality of the dentition Everted lower lip vermilion Tortuosity of conjunctival vessels Hypodontia Hyperkeratotic papule Ectodermal dysplasia Sparse scalp hair Membranoproliferative glomerulonephritis Recurrent corneal erosions IgA deposition in the glomerulus Limited hip extension Blurred vision Nephrolithiasis Inflammatory abnormality of the skin Asthma Camptodactyly Weight loss Blotching pigmentation of the skin Alacrima Episodic abdominal pain Hand clenching Short chin Open mouth Apnea Neonatal hypotonia Talipes equinovarus Feeding difficulties Pericarditis Oral ulcer Flexion contracture Thyroiditis Comedo Polyarticular arthritis Increased IgA level Corneal neovascularization Villous atrophy Follicular hyperkeratosis Antinuclear antibody positivity Autoimmune hemolytic anemia Pleuritis Atrophic scars Chronic diarrhea Epidermal acanthosis Hemolytic anemia Photophobia Hepatosplenomegaly Splenomegaly Failure to thrive High palate Low-set ears Macroscopic hematuria Steppage gait Cryptorchidism Abnormal facial shape Acetabular dysplasia Unexplained fevers Hyposmia Decreased number of peripheral myelinated nerve fibers Bowel incontinence Anosmia Sepsis Recurrent fractures Hepatic failure Elevated hepatic transaminase Hepatomegaly Muscle weakness Decreased serum complement factor I Loss of eyelashes Discoid lupus rash Hydronephrosis Vesicoureteral reflux Global developmental delay Urethral stenosis Nocturnal lagophthalmos Abnormal facial expression Encopresis Urethral valve Urethral obstruction Enuresis nocturna Mild proteinuria Facial grimacing Recurrent urinary tract infections Pyelonephritis Urinary retention Neurogenic bladder Wolff-Parkinson-White syndrome Enuresis Dysuria Acute kidney injury Hydroureter ST segment depression Decreased female libido Mucosal telangiectasiae Left ventricular hypertrophy Purpura Aminoaciduria Exercise intolerance Spontaneous abortion Fasciculations Lymphedema Anorexia Subcutaneous nodule Ventricular tachycardia Abnormal lung morphology Mitral regurgitation Palpitations Myocardial infarction Atrial fibrillation Thick lower lip vermilion Nephrotic syndrome Hyperlipidemia Aortic regurgitation Abnormality of the cardiovascular system Prominent supraorbital ridges Tricuspid regurgitation Impaired vibratory sensation Heart murmur Personality changes Glomerulosclerosis Hemiplegia Abnormality of the hand Chronic kidney disease Abnormal intestine morphology Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Progressive hearing impairment Mitral valve prolapse Hypotension Emphysema Arrhythmia Anxiety Carcinoma Coarse facial features Mandibular prognathia Dyspnea Hypothyroidism Posteriorly rotated ears Depressivity Hypertrophic cardiomyopathy Midface retrusion Behavioral abnormality Congestive heart failure Vomiting Cardiomyopathy Fatigue Optic atrophy Cognitive impairment Abnormality of the nervous system Abnormality of the kidney Syncope Paresthesia Sudden cardiac death Abdominal distention Muscle cramps Thick eyebrow Bulbous nose Nausea Vertigo Delayed puberty Developmental regression Nausea and vomiting Malabsorption Abnormality of the cerebral white matter Pruritus Corneal opacity Prominent nasal bridge Cough Stroke Diabetes insipidus Loss of consciousness Concentric hypertrophic cardiomyopathy Abnormality of the renal tubule Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormal thrombosis Abnormality of cardiovascular system physiology Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Abnormal endocardium morphology Vascular skin abnormality Abnormal mitral valve morphology Angiokeratoma Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Obstructive lung disease Reduced sperm motility Retinal vascular tortuosity Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Periorbital fullness Asymmetric septal hypertrophy Bundle branch block Renal tubular acidosis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Glycosuria Elevated serum creatinine Abnormal heart valve morphology Telangiectasia of the skin Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Coronary artery atherosclerosis Impotence Tubulointerstitial nephritis Tubular atrophy High-frequency hearing impairment Achalasia Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Chronic obstructive pulmonary disease Abnormality of the gastrointestinal tract Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Punctate keratitis


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