Edema, and Lactic acidosis

Diseases related with Edema and Lactic acidosis

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

Top matches:

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Other less relevant matches:

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia.

HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA Is also known as combined oxidative phosphorylation defect type 5|coxpd5

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Muscular hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOTONIA WITH LACTIC ACIDEMIA AND HYPERAMMONEMIA

Fanconi renotubular syndrome is a consequence of decreased solute and water reabsorption in the proximal tubule of the kidney. Patients have polydipsia and polyuria with phosphaturia, glycosuria, and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis, and a tendency toward dehydration. Some will eventually develop renal insufficiency. Common laboratory abnormalities include glucosuria with a normal serum glucose, hyperaminoaciduria, hypophosphatemia, progressive renal insufficiency, renal sodium and potassium wasting, acidosis, uricosuria, and low-molecular-weight proteinuria (summary by Lichter-Konecki et al., 2001). Genetic Heterogeneity of Fanconi Renotubular SyndromeFanconi renotubular syndrome-1 has been mapped to chromosome 15q15.3. See also FRTS2 (OMIM ), caused by mutation in the SLC34A1 gene (OMIM ) on chromosome 5q35; FRTS3 (OMIM ), caused by mutation in the EHHADH gene (OMIM ) on chromosome 3q27; and FRTS4 (OMIM ), which is associated with maturity-onset diabetes of the young (MODY), caused by mutation in the HNF4A gene (OMIM ) on chromosome 20q13.

PRIMARY FANCONI SYNDROME Is also known as fanconi syndrome without cystinosis|primary fanconi renotubular syndrome|renal fanconi syndrome|frts|luder-sheldon syndrome|fanconi renotubular syndrome|rfs|adult fanconi syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Renal insufficiency
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY FANCONI SYNDROME

Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia.

OVERHYDRATED HEREDITARY STOMATOCYTOSIS Is also known as ohs|potassium-sodium disorder of erythrocyte

Related symptoms:

  • Generalized hypotonia
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OVERHYDRATED HEREDITARY STOMATOCYTOSIS

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Lactic acidosis

Symptoms // Phenotype % cases
Acidosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Increased serum lactate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Metabolic acidosis Growth delay Respiratory insufficiency Hypertrophic cardiomyopathy Muscle weakness Ascites Encephalopathy Cardiomyopathy Muscular hypotonia

Rare Symptoms - Less than 30% cases

Dehydration Cerebral edema Motor delay Sideroblastic anemia Ataxia Cerebral atrophy Feeding difficulties Tetraparesis Leukoencephalopathy Low-set ears Spastic tetraplegia Spasticity Small for gestational age Redundant neck skin Microcephaly Failure to thrive Respiratory tract infection Patent ductus arteriosus Hepatomegaly Arrhythmia Intellectual disability Abnormality of mitochondrial metabolism Decreased activity of the pyruvate dehydrogenase complex Bradycardia Hypertension Neonatal hypotonia Severe lactic acidosis Pain Nystagmus Congestive heart failure Muscular hypotonia of the trunk Abdominal pain Respiratory failure Anemia Reticulocytosis Increased antibody level in blood Pulmonary fibrosis Brittle hair Anisocytosis Spherocytosis Hyperbilirubinemia Hydrops fetalis Ventricular septal defect Hemolytic anemia Hepatic steatosis Nephropathy Stomatocytosis Cough Pallor Rigidity Hepatosplenomegaly Jaundice Splenomegaly Diarrhea Fever Lacticaciduria Low-molecular-weight proteinuria Renal Fanconi syndrome Maturity-onset diabetes of the young Poikilocytosis Increased red cell osmotic fragility Intermittent jaundice Wolff-Parkinson-White syndrome Hyperglycinemia Profound global developmental delay Poor suck Spastic tetraparesis Leukodystrophy Sleep disturbance Severe global developmental delay Apnea Myoclonus Hydrocephalus Flexion contracture Decreased activity of mitochondrial respiratory chain Hyperalaninemia Sinus bradycardia Ketonuria Congenital hemolytic anemia Optic atrophy Hyperphosphaturia Increased intracellular sodium Gait ataxia Respiratory distress Cognitive impairment Dysphagia Dystonia Aspiration pneumonia Hypoglycemia Poor speech Tachycardia Cardiomegaly Infantile muscular hypotonia Pleural effusion Hypophosphatemic rickets Rickets Renal tubular dysfunction Coma Decreased fetal movement Abnormal facial shape Cerebellar edema Encephalomalacia Infantile encephalopathy Skin erosion Vegetative state Myelopathy Increased CSF lactate Progressive encephalopathy Ragged-red muscle fibers Progressive neurologic deterioration Brain atrophy Abnormality of the cerebral white matter Ventriculomegaly Developmental regression Poor appetite Tremor Strabismus Increased serum pyruvate Decreased activity of mitochondrial complex I Extramedullary hematopoiesis Pericardial effusion Decreased liver function Oligohydramnios Caesarian section Decreased activity of mitochondrial complex IV EEG abnormality Intrauterine growth retardation Brachydactyly Agenesis of corpus callosum Osteomalacia Chronic metabolic acidosis Glycosuria Hypophosphatemia Polyuria Thrombocytopenia Polydipsia Hypokalemia Chronic kidney disease Aminoaciduria Aciduria Proteinuria Diabetes mellitus Renal insufficiency Short stature Abnormality of the amniotic fluid Elevated hepatic transaminase Abnormality of the renal tubule Generalized edema Delayed myelination Tetraplegia Dilated cardiomyopathy Retrognathia Posteriorly rotated ears Fatigue Hypoplasia of the corpus callosum Hypokinesia Redundant skin Lethargy Polyhydramnios Feeding difficulties in infancy Nonketotic hyperglycinemia


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