Fever, and Reduced visual acuity

Diseases related with Fever and Reduced visual acuity

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

Top matches:

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

Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency (see this term).

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM Is also known as cpt2, adult-onset form|cpt2 deficiency, late-onset|carnitine palmitoyl transferase deficiency type 2, myopathic form|cptii, myopathic form|carnitine palmitoyl transferase ii deficiency, adult-onset form|carnitine palmitoyl transferase deficiency type 2, a

Related symptoms:

  • Muscle weakness
  • Pain
  • Spasticity
  • Visual impairment
  • Fever


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, MYOPATHIC FORM

Other less relevant matches:

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA.

Related symptoms:

  • Ptosis
  • Hypertension
  • Fever
  • Fatigue
  • Headache


SOURCES: MESH ORPHANET MENDELIAN

More info about PITUITARY APOPLEXY

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

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

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Low match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Top 5 symptoms//phenotypes associated to Fever and Reduced visual acuity

Symptoms // Phenotype % cases
Spasticity Uncommon - Between 30% and 50% cases
Blindness Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Reduced visual acuity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Seizures Muscle weakness Coma Hepatosplenomegaly Peripheral neuropathy Developmental regression Optic atrophy Fatigue Severe vision loss Gait disturbance Hypertension Vomiting Hearing impairment Edema

Rare Symptoms - Less than 30% cases

Spastic paraparesis Pain Abnormal joint morphology Hypocalcemia Muscle stiffness Myalgia Renal insufficiency Foot dorsiflexor weakness Vasculitis Uveitis Juvenile rheumatoid arthritis Progressive cerebellar ataxia Growth delay Distal muscle weakness Abnormality of the liver Abnormal facial shape Generalized hypotonia Diarrhea Paraparesis Papule Arthritis Skin rash Macrocephaly Bitemporal hemianopia Adrenocorticotropic hormone deficiency Hypopituitarism Growth hormone deficiency Nausea and vomiting Hypoglycemia Encephalopathy Splenomegaly Abducens palsy Encephalitis Spastic tetraplegia Gliosis Tetraplegia Pallor Rigidity Cerebral atrophy Delayed speech and language development Paresthesia Blurred vision Confusion Photophobia Dysarthria Diplopia Hemiparesis Intention tremor Nystagmus Intellectual disability, mild Tremor Hepatomegaly Talipes equinovarus Gait ataxia Headache Hyperreflexia Motor delay Migraine Abnormality of the eye Hypothyroidism Autism Severe short stature Micropenis Polydactyly Agenesis of corpus callosum Obesity Syndactyly Severe global developmental delay Diabetes insipidus Abnormality of eye movement Talipes Short finger Dehydration Heterotopia Amniotic constriction ring Absent septum pellucidum Cardiomyopathy Exercise intolerance Cerebral palsy Optic nerve hypoplasia Precocious puberty Cerebellar atrophy Intermittent generalized erythematous papular rash Hypoplasia of the corpus callosum Abnormal cranial nerve morphology Autoimmunity Camptodactyly of finger Depressivity Eczema Inflammatory abnormality of the skin Subcutaneous nodule Skin ulcer Hypercalcemia Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Behavioral abnormality Optic neuropathy Joint swelling Macular edema Cryptorchidism Iritis Short stature Nongranulomatous uveitis Colpocephaly Tendonitis Panuveitis Large vessel vasculitis Iridocyclitis Synovitis Posterior uveitis Anterior uveitis Band keratopathy Granulomatosis Flexion contracture of toe Cystoid macular edema Panhypopituitarism Ectopic posterior pituitary Cavum septum pellucidum Generalized myoclonic seizures Retrobulbar optic neuritis Abnormal granulocyte morphology Feeding difficulties Depressed nasal bridge Epicanthus Ventriculomegaly Anteverted nares Kyphosis Babinski sign Posteriorly rotated ears Prominent forehead Platyspondyly Neurodegeneration Generalized muscle weakness Clumsiness Abnormality of neutrophils Abnormality of the face Coxa valga Brisk reflexes Loss of speech Developmental stagnation Abnormality of the spleen Visceromegaly Psychomotor deterioration Loss of ability to walk Vacuolated lymphocytes Decerebrate rigidity Progressive psychomotor deterioration Lumbar kyphosis Sea-blue histiocytosis Pseudopapilledema Inflammatory abnormality of the eye Hemianopia Lymphadenopathy Anterior pituitary hypoplasia Optic disc hypoplasia Septo-optic dysplasia Pituitary dwarfism Decreased circulating luteinizing hormone level Decreased circulating follicle stimulating hormone level Sensorineural hearing impairment Anemia Brachydactyly Frontal bossing Proptosis Skeletal dysplasia Arthralgia EEG abnormality Premature birth Elevated C-reactive protein level Overgrowth Meningitis Joint dislocation Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Arthropathy Amyloidosis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Camptodactyly Cessation of head growth Glaucoma Hypertonia Abnormality of the musculature Rhabdomyolysis Restlessness Myoglobinuria Ketosis Hyperphosphatemia Ketonuria Exercise-induced myalgia Hyperlipoproteinemia Recurrent myoglobinuria Recurrent pancreatitis Severe hearing impairment Dysphasia Aphasia Pancreatitis Pneumonia Loss of consciousness Hemiplegia Cough Polyneuropathy Tinnitus Hallucinations Increased CSF protein Cerebral edema Abnormal posturing Apraxia Acute encephalopathy Abnormal muscle tone Necrotizing encephalopathy Hyperkalemia Drowsiness Acute necrotizing encephalopathy Generalized limb muscle atrophy Skeletal muscle atrophy Hepatic failure Distal sensory impairment Sensory impairment Frequent falls Hepatic fibrosis Sensorimotor neuropathy Transient unilateral blurring of vision Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Stuttering Episodic ataxia Personality disorder Migraine without aura Borderline personality disorder Myopathy Phonophobia Arrhythmia Elevated serum creatine phosphokinase Respiratory failure Proximal muscle weakness Migraine with aura Lower limb muscle weakness Muscle cramps Hypertriglyceridemia Insulin resistance Polyneuritis Ptosis Flexion contracture Emotional lability Unsteady gait Memory impairment Amenorrhea Peripheral demyelination Primary amenorrhea Progressive neurologic deterioration Spastic gait Leukodystrophy Intellectual disability, moderate Leukoencephalopathy CNS hypomyelination Premature ovarian insufficiency Personality changes Axonal degeneration Lethargy Secondary amenorrhea Progressive encephalopathy Hyperventilation Delusions CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Rapid neurologic deterioration Spastic hemiparesis Hyporeflexia Decreased circulating progesterone Failure to thrive Cataract Abnormality of the cerebral white matter Mental deterioration Abnormal cerebellum morphology Central diabetes insipidus Nausea Vertigo Hypotension Hypergonadotropic hypogonadism Cranial nerve paralysis Hyponatremia Impotence Growth hormone excess Increased circulating cortisol level Oligomenorrhea Prolactin excess Pituitary adenoma Excessive daytime somnolence Pituitary hypothyroidism Normochromic anemia Dementia Galactorrhea Abnormality of the cerebrospinal fluid Mydriasis Prolactin deficiency Trigeminal neuralgia Dysmetria Abnormal kinetic perimetry test Thunderclap headache Abnormal caudate nucleus morphology Abnormal static automated perimetry test Muscular hypotonia Cognitive impairment Stroke Autistic behavior Decreased beta-galactosidase activity


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