Optic atrophy, and Febrile seizures

Diseases related with Optic atrophy and Febrile seizures

In the following list you will find some of the most common rare diseases related to Optic atrophy and Febrile seizures that can help you solving undiagnosed cases.


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11


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

High match VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

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Other less relevant matches:

High match DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY


Dihyropyrimidine dehydrogenase deficiency shows large phenotypic variability, ranging from no symptoms to a convulsive disorder with motor and mental retardation in homozygous patients. In addition, homozygous and heterozygous mutation carriers can develop severe toxicity after the administration of the antineoplastic drug 5-fluorouracil (5FU), which is also catabolized by the DPYD enzyme. This is an example of a pharmacogenetic disorder (Van Kuilenburg et al., 1999).Since there is no correlation between genotype and phenotype in DPD deficiency, it appears that the deficiency is a necessary, but not sufficient, prerequisite for the development of clinical abnormalities (Van Kuilenburg et al., 1999; Enns et al., 2004).

DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY Is also known as pyrimidinemia, familial|familial pyrimidinemia|dpyd deficiency|dpd deficiency|thymine-uraciluria, hereditary

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY

High match MEGDEL SYNDROME


MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterized by neonatal hypoglycemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.

MEGDEL SYNDROME Is also known as mgca6|3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome|3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and leigh-like syndrome|megdhel|3-methylglutaconic aciduria, type vi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGDEL SYNDROME

High match 3-METHYLGLUTACONIC ACIDURIA TYPE 1


3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

High match COATS PLUS SYNDROME


Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

High match DPM1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

DPM1-CDG Is also known as cdg1e|cdg syndrome type ie|congenital disorder of glycosylation type 1e|carbohydrate deficient glycoprotein syndrome type ie|cdg-ie|congenital disorder of glycosylation type ie|cdgie|dol-p-mannosyltransferase deficiency|cdg ie

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPM1-CDG

High match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Medium match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Top 5 symptoms//phenotypes associated to Optic atrophy and Febrile seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Febrile seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar atrophy

Common Symptoms - More than 50% cases


Encephalopathy

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Spasticity Cerebral atrophy Failure to thrive Severe global developmental delay Visual impairment Dystonia Nystagmus Hearing impairment Hepatomegaly Strabismus Feeding difficulties Motor delay Absent speech Mental deterioration Abnormality of movement Hypoplasia of the corpus callosum Recurrent infections Leukodystrophy Myopathy Acidosis Spastic tetraplegia Hypoglycemia Brain atrophy Sensorineural hearing impairment Abnormality of the eye Muscular hypotonia of the trunk Hyperreflexia Metabolic acidosis Leukoencephalopathy Abnormality of the liver Edema Abnormal pyramidal sign Muscular hypotonia Retinopathy Respiratory distress

Rare Symptoms - Less than 30% cases


Dysphagia Elevated hepatic transaminase Developmental regression Tetraplegia Peripheral neuropathy Cognitive impairment Scoliosis Aspiration pneumonia Aspiration Paraplegia Lethargy Hyperactivity Agenesis of corpus callosum Pneumonia Weak cry Generalized myoclonic seizures Thrombocytopenia Spastic paraplegia EEG abnormality Lactic acidosis Telangiectasia Tremor Intrauterine growth retardation Hypertension Anemia Progressive visual loss Nail dysplasia Coma Abnormality of the cerebral white matter Gait ataxia Visual loss Cardiomyopathy Dysarthria 3-Methylglutaconic aciduria Hepatic failure Progressive spasticity Truncal ataxia Decreased liver function Abnormality of extrapyramidal motor function Aciduria Increased serum lactate Micrognathia Patent ductus arteriosus Blindness Apnea Hepatic steatosis Dyskinesia Short stature Progressive cerebellar ataxia Ventriculomegaly Epileptic encephalopathy Flexion contracture Vomiting Poor eye contact Cerebral calcification Delayed myelination Postnatal microcephaly CNS hypomyelination Cerebral visual impairment Spastic tetraparesis Myoclonus Global brain atrophy Hypertonia Hypsarrhythmia Abnormal facial shape Inability to walk Delayed speech and language development Coloboma Abnormality of eye movement Iris coloboma Ptosis Abnormal myelination Upper limb undergrowth Deep venous thrombosis Hernia Renal insufficiency Prolonged partial thromboplastin time Congestive heart failure Atrial septal defect Type I transferrin isoform profile Muscle weakness Respiratory insufficiency Pontocerebellar atrophy Hypoglycosylation of alpha-dystroglycan Talipes equinovarus Abnormal macular morphology Reduced antithrombin III activity Fatigue Macrocephaly Reduced protein C activity Reduced protein S activity Skeletal muscle atrophy Fever Flat occiput Ankle contracture Short palm Depressed nasal bridge Downslanted palpebral fissures Intellectual disability, severe Splenomegaly Elevated serum creatine phosphokinase Prominent forehead Hypermetropia Camptodactyly Prominent nasal bridge Muscular dystrophy Smooth philtrum Dysmetria High, narrow palate Cryptorchidism Small hand Dental malocclusion Intention tremor Progressive neurologic deterioration Knee flexion contracture Venous thrombosis Hemangioma Abnormality of vision Poor suck Trigonocephaly Increased variability in muscle fiber diameter Lower limb hyperreflexia Areflexia Proximal muscle weakness Hyporeflexia Cerebral edema Adrenal insufficiency Pericardial effusion Basal ganglia calcification Renal tubular acidosis Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Nemaline bodies Increased CSF lactate Wolff-Parkinson-White syndrome Corpus callosum atrophy Severe lactic acidosis Acute pancreatitis Incoordination Stiff neck Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Progressive macrocephaly Necrotizing encephalopathy Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Exercise-induced lactic acidemia Oral-pharyngeal dysphagia Ragged-red muscle fibers Babinski sign Gliosis Respiratory failure Kyphoscoliosis Decreased pulmonary function Myalgia Hypertrophic cardiomyopathy Feeding difficulties in infancy Irritability Pallor Stroke Limb muscle weakness Talipes Stage 5 chronic kidney disease Abnormal cerebellum morphology Premature birth Shock Migraine Cyanosis Pigmentary retinopathy Optic disc pallor Congenital diaphragmatic hernia Cardiomegaly Coarctation of aorta Ventricular hypertrophy Left ventricular hypertrophy Wide anterior fontanel Cardiac arrest Horizontal nystagmus Exercise intolerance Pancreatitis Hypertelorism Calcinosis Spastic hemiparesis Atonic seizures Respiratory tract infection Poor speech Hepatosplenomegaly Coarse facial features Reduced visual acuity Abnormality of skin pigmentation Constipation Sepsis Excessive daytime sleepiness Megalencephaly Hyperventilation Lower limb spasticity Infantile spasms Jaundice Hyperammonemia Abnormality of mitochondrial metabolism Abnormality of the coagulation cascade Renal tubular dysfunction Ketonuria Demyelinating peripheral neuropathy Hyponatremia Psychomotor deterioration Increased total bilirubin Neonatal sepsis Ketotic hypoglycemia 3-Methylglutaric aciduria Language impairment Focal-onset seizure Recurrent respiratory infections Back pain Delayed gross motor development Microphthalmia Alopecia Neoplasm Oromotor apraxia Temperature instability Weight loss Autism Autistic behavior Diffuse white matter abnormalities Cerebral hypomyelination Neurogenic bladder Leukopenia Breast carcinoma Abnormal autonomic nervous system physiology Hypoventilation Delayed CNS myelination Diffuse cerebral atrophy Stomatitis Recurrent aspiration pneumonia Reduced dihydropyrimidine dehydrogenase activity Uraciluria Developmental stagnation Limb hypertonia Central hypotonia Abnormality of the periventricular white matter Multiple joint contractures Focal impaired awareness seizure Cataract Slurred speech Exudative retinopathy Increased susceptibility to fractures Postnatal growth retardation Sparse hair Tetraparesis Small for gestational age Nail dystrophy Genu valgum Cirrhosis Recurrent fractures Gastrointestinal hemorrhage Hemiparesis Thin skin Bone marrow hypocellularity Hemiplegia Osteoporosis Portal hypertension Short femoral neck Pathologic fracture Abnormality of the vasculature Hematochezia Diarrhea Oral leukoplakia Esophageal varix Morphological abnormality of the pyramidal tract Intestinal bleeding Metaphyseal sclerosis Retinal exudate Retinal telangiectasia Osteopenia Delayed ability to walk Progressive microcephaly Memory impairment Status epilepticus Dementia Gastroesophageal reflux Dilated cardiomyopathy Generalized tonic-clonic seizures Unsteady gait Confusion Neurodegeneration Neutropenia Paralysis Abnormality of the nervous system Urinary incontinence Neonatal hypotonia Pain Choreoathetosis Limb ataxia Paraparesis Spastic paraparesis Athetosis Short attention span Skeletal myopathy Abnormality of the basal ganglia Nonprogressive cerebellar ataxia Testicular dysgenesis Hyperchloremic acidosis Progressive forgetfulness Headache Retinal dystrophy



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