Fever, and Corneal opacity

Diseases related with Fever and Corneal opacity

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

Top matches:

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 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

Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Other less relevant matches:

Muckle-Wells syndrome (MWS) is characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis (Dode et al., 2002).See also familial cold-induced autoinflammatory syndrome-1 (FCAS1, CAPS1; {120100}), an allelic disorder with overlapping clinical features.

MUCKLE-WELLS SYNDROME; MWS Is also known as caps2|uda syndrome|urticaria-deafness-amyloidosis syndrome|cryopyrin-associated periodic syndrome 2

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about MUCKLE-WELLS SYNDROME; MWS

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

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE Is also known as cystinosis, intermediate

Related symptoms:

  • Short stature
  • Failure to thrive
  • Muscle weakness
  • Visual impairment
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.

FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial|dys|hereditary sensory and autonomic neuropathy type iii|hereditary sensory and autonomic neuropathy type 3|hsan3|hsan iii|fd|riley-day syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DYSAUTONOMIA

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).

XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i|xp1|xp, group a|xp

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about XERODERMA PIGMENTOSUM

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Episodic fever Hyperhidrosis Hyporeflexia Generalized hypotonia Growth delay Recurrent corneal erosions Skin rash Sensory neuropathy Intellectual disability Vomiting Hypohidrosis Hearing impairment Cataract Fatigue Anemia Stage 5 chronic kidney disease Visual impairment Global developmental delay Opacification of the corneal stroma Photophobia Corneal scarring Short stature

Rare Symptoms - Less than 30% cases

Delayed puberty Nephropathy Band keratopathy Pigmentary retinopathy Dehydration Hepatosplenomegaly Arthralgia Diarrhea Retinopathy Sensorineural hearing impairment Aminoaciduria Polydipsia Rickets Cerebral calcification Muscle weakness Proteinuria Delayed skeletal maturation Impaired pain sensation Anhidrosis Keratitis Emotional lability Abnormal autonomic nervous system physiology Thickened skin Cognitive impairment Corneal ulceration Hypogonadism Conjunctivitis Hyperkeratosis Behavioral abnormality Neuropathic arthropathy Microscopic hematuria Retinal pigment epithelial mottling Gait disturbance Myopathy Hypothyroidism Heat intolerance Corneal crystals Elevated intracellular cystine Tachycardia Arthritis Spasticity Blindness Scoliosis Alacrima Hyponatremia Microcephaly Areflexia Skin ulcer High palate Flexion contracture Low-set ears Decreased corneal reflex Pain insensitivity Scarring Headache Hepatomegaly Hypertension Vasculitis Cerebral cortical atrophy Ataxia Optic atrophy Aseptic necrosis Splenomegaly Cardiomyopathy Microretrognathia Postnatal microcephaly Episodic hypertension Intellectual disability, severe Episodic hyperhidrosis Abnormality of the peritoneum Decreased taste sensation Decreased liver function Cerebral visual impairment Micropenis Hypertonia Recurrent infections due to aspiration Hypertrophic cardiomyopathy Decerebrate rigidity Purpura Jaundice Increased blood urea nitrogen Muscular hypotonia of the trunk Spastic tetraparesis Elevated hepatic transaminase Pachygyria Abnormality of the liver Gliosis Cerebellar hypoplasia Anteverted nares Ventriculomegaly Polymicrogyria Neuronal loss in central nervous system Hyperreflexia Long philtrum Microphthalmia Thrombocytopenia Abnormal facial shape Sloping forehead Decreased sensitivity to hypoxemia Micrognathia Nystagmus Abnormality of movement Congenital cataract Hypertelorism Generalized tonic-clonic seizures Intellectual disability, profound Status epilepticus Tetraplegia Tetraparesis Memory impairment Lissencephaly Choreoathetosis Reduced tendon reflexes Neoplasm of the skin Intellectual disability, progressive Bone marrow hypocellularity Abnormal vertebral morphology Telangiectasia Thin skin Cutaneous photosensitivity Hypopigmented skin patches Abnormality of extrapyramidal motor function Decreased testicular size Dry skin Erythema Developmental regression Mental deterioration Carcinoma Melanoma Dermal atrophy Alopecia Poikiloderma Neoplasm of the eye Defective DNA repair after ultraviolet radiation damage Ankyloblepharon Papilloma Conjunctival telangiectasia Entropion Craniofacial hyperostosis Blepharitis Pterygium Telangiectasia of the skin Freckling Macule Hypermelanotic macule Squamous cell carcinoma Melanocytic nevus Ectropion EEG abnormality Abnormality of the dentition Petechiae Confusion Chronic kidney disease Nephrolithiasis Progressive neurologic deterioration Decreased number of large peripheral myelinated nerve fibers Generalized muscle weakness Hypopigmentation of the skin Abnormality of skin pigmentation Genu valgum Metaphyseal widening Diabetes mellitus Cerebral atrophy Dysphagia Frontal bossing Skeletal muscle atrophy Congenital microcephaly Increased CSF protein Failure to thrive in infancy Oral-pharyngeal dysphagia Cryptorchidism Primary hypothyroidism Strabismus Neoplasm Oral motor hypotonia Episodic metabolic acidosis Rachitic rosary Renal Fanconi syndrome Generalized aminoaciduria Hypophosphatemic rickets Polyuria Decreased plasma carnitine Male hypogonadism Preeclampsia Flushing Exocrine pancreatic insufficiency Hypopigmentation of hair Male infertility Glycosuria Abnormality of the pleura Hypophosphatemia Abnormal renal physiology Myalgia Abducens palsy Flexion contracture of toe Granulomatosis Anterior uveitis Posterior uveitis Iridocyclitis Iritis Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Abnormality of the skeletal system Abdominal pain Lymphadenopathy Synovitis Ichthyosis Hematuria Coma Abnormality of the skin Nephrotic syndrome Meningitis Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Amyloidosis Abnormality of the mouth Papilledema Recurrent aphthous stomatitis Cystoid macular edema Juvenile rheumatoid arthritis Cystinuria Glaucoma Painless fractures due to injury Impaired thermal sensitivity Feeding difficulties Talipes equinovarus Respiratory insufficiency Neonatal hypotonia Apnea Open mouth Bradycardia Short chin Hand clenching Limited hip extension Blotching pigmentation of the skin Edema Camptodactyly Macular edema Increased antibody level in blood Abnormal cranial nerve morphology Joint swelling Uveitis Optic neuropathy Abnormal joint morphology Abnormality of the ear Rheumatoid arthritis Autoimmunity Hypercalcemia Subcutaneous nodule Inflammatory abnormality of the skin Eczema Papule Camptodactyly of finger Chills Renal amyloidosis Abnormal pupil morphology Hypotension Nephrogenic diabetes insipidus Muscular hypotonia Myopia Depressivity Constipation Recurrent respiratory infections Gastroesophageal reflux Abnormality of the kidney Feeding difficulties in infancy Nausea and vomiting Unsteady gait Nausea Recurrent fractures Sensory impairment Peripheral demyelination Dysphasia EMG abnormality Osteolysis Incoordination Glomerulosclerosis Epiphora Agitation Orthostatic hypotension Glomerulopathy Malignant hyperthermia Acrocyanosis Elevated serum creatinine Heterochromia iridis Corneal erosion Hypoxemia Renal tubular dysfunction Portal hypertension Rigors Poor wound healing Recurrent infections Hyperactivity Irritability Hip dislocation Nail dystrophy Carious teeth Decreased antibody level in blood Nail dysplasia Febrile seizures Self-injurious behavior Osteomyelitis Bowel incontinence Self-mutilation Lack of skin elasticity Lichenification Hypokalemia Abnormal pyramidal sign Growth abnormality Cranial nerve paralysis Type I diabetes mellitus Stereotypy Aciduria Malabsorption Intellectual disability, mild Hypotrichosis of the scalp Postural hypotension with compensatory tachycardia Decreased number of small peripheral myelinated nerve fibers Autoamputation of digits Acral ulceration Palmar hyperkeratosis Abnormality of dental color Flat nasal alae


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