Visual impairment, and Lactic acidosis

Diseases related with Visual impairment and Lactic acidosis

In the following list you will find some of the most common rare diseases related to Visual impairment and Lactic acidosis that can help you solving undiagnosed cases.


Top matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23


Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Low match GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME


Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, vision impairment, speech and language delay and lactic acidosis with reduced respiratory chain activity (typically complex I). Additonal features may include macrocytic anemia, tremor, muscular atrophy, dysmetria and mild intellectual disability.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Growth delay
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about GROWTH AND DEVELOPMENTAL DELAY-HYPOTONIA-VISION IMPAIRMENT-LACTIC ACIDOSIS SYNDROME

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

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Other less relevant matches:

Low match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4


Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4; PEOA4

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14


Combined oxidative phosphorylation defect type 14 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by neonatal or infancy-onset of seizures that are refractory to treatment, delayed or absent psychomotor development and lactic acidosis. Additional manifestations reported include poor feeding, failure to thrive, microcephaly, hypotonia, anemia and thrombocytopenia.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14 Is also known as coxpd14

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 14

Low match FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3


Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

Low match PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY


Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY Is also known as 2,4-dienoyl-coa reductase deficiency|decr deficiency with hyperlysinemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

Low match HSD10 MITOCHONDRIAL DISEASE; HSD10MD


HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency|mhbd deficiency|2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency|camr|mental retardation with chorioathetosis and abnormal behavior|mental retardation, x-linked, syndromic 10|17-beta-hydroxysteroid dehydrogenase x deficiency|chor

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Top 5 symptoms//phenotypes associated to Visual impairment and Lactic acidosis

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Acidosis Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Visual impairment and Lactic acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Encephalopathy Dystonia Cardiomyopathy Cerebellar atrophy Failure to thrive Neonatal hypotonia Tremor Delayed speech and language development Intellectual disability Growth delay Optic atrophy Hypertrophic cardiomyopathy Ventriculomegaly Intrauterine growth retardation Feeding difficulties Absent speech Muscle weakness Ragged-red muscle fibers Cerebral atrophy Hypoplasia of the corpus callosum Developmental regression Myoclonus Diffuse cerebral atrophy Nystagmus Cognitive impairment Hepatomegaly Spasticity Ataxia

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Ophthalmoplegia Hypoglycemia Cerebral visual impairment Tetraparesis Rigidity Aggressive behavior Spastic tetraparesis Leukoencephalopathy Feeding difficulties in infancy Athetosis Decreased activity of mitochondrial complex I Irritability Decreased activity of mitochondrial complex IV Skeletal muscle atrophy Neurological speech impairment Respiratory insufficiency Blindness Anemia Elevated serum creatine phosphokinase Decreased activity of mitochondrial complex III Dysmetria Elevated hepatic transaminase Tetraplegia Hyperreflexia Respiratory failure Dilated cardiomyopathy Lethargy Epileptic encephalopathy Arrhythmia Leukodystrophy Muscular hypotonia Choreoathetosis Cerebral cortical atrophy Thrombocytopenia Abnormality of the mitochondrion Microcephaly Ptosis Hearing impairment Mitochondrial encephalopathy Metabolic acidosis Spastic tetraplegia Severe lactic acidosis Pancreatitis Concentric hypertrophic cardiomyopathy Respiratory distress Optic neuropathy Rhabdomyolysis Apathy Patent foramen ovale Renal tubular acidosis Sensorimotor neuropathy Decreased fetal movement Peripheral axonal neuropathy Patent ductus arteriosus Peripheral neuropathy Epilepsia partialis continua Type 2 muscle fiber atrophy Generalized aminoaciduria Severe muscular hypotonia Sensorineural hearing impairment Progressive encephalopathy Drooling Chorea Aciduria Dehydration Progressive neurologic deterioration Hallucinations Horizontal nystagmus Abnormality of mitochondrial metabolism Retinal degeneration Agitation Restlessness Mitochondrial myopathy Gastrointestinal dysmotility Loss of ability to walk Abnormal mitochondrial morphology Persistent lactic acidosis Neurodegeneration Abnormality of movement Aspiration pneumonia Abnormal basal ganglia MRI signal intensity Organic aciduria Decreased plasma carnitine Nonprogressive cerebellar ataxia Progressive spastic quadriplegia Central sleep apnea Abnormal involuntary eye movements Hyperlysinemia Decreased activity of NADPH oxidase Gait ataxia Stress/infection-induced lactic acidosis Abnormality of carnitine metabolism Aminoaciduria Dysarthria Dysphagia Myopathy Visual loss Atrophy/Degeneration affecting the brainstem Amblyopia Status epilepticus Bradykinesia Progressive muscle weakness Limb muscle weakness Abnormality of the liver Facial palsy Myalgia Gastroesophageal reflux Constipation Pain Dysplastic corpus callosum Macrovesicular hepatic steatosis Muscle stiffness Cholestasis Hepatic steatosis External ophthalmoplegia Abnormality of the cerebral white matter Hypospadias Macrocytic anemia Difficulty running Cleft palate Nonketotic hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Hyperglycinemia Malnutrition Poor head control Abnormality of extrapyramidal motor function Flexion contracture Exercise intolerance Easy fatigability Hypsarrhythmia Brisk reflexes Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Paraplegia Spastic paraplegia EEG abnormality Babinski sign Wide nasal bridge Multifocal seizures Epileptic spasms Limb hypertonia Generalized amyotrophy Exotropia Glucose intolerance Vomiting Delayed myelination Muscular hypotonia of the trunk Rod-cone dystrophy Congestive heart failure Hypertonia Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Gastroparesis Left bundle branch block Ketosis Progressive external ophthalmoplegia Bundle branch block Progressive choreoathetosis



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