Lymphoma, and Lactic acidosis

Diseases related with Lymphoma and Lactic acidosis

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

Top matches:

Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

MN antigens reside on GYPA, one of the most abundant red-cell glycoproteins. The M and N antigens are 2 autosomal codominant antigens encoded by the first 5 amino acids of GYPA and include 3 O-linked glycans as part of the epitope. M and N differ at amino acids 1 and 5, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. M is the ancestral GYPA allele and is common in all human populations and Old World apes. GYPA, glycophorin B (GYPB ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Antigens of the Ss blood group (OMIM ) reside on GYPB, and recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs or MNS blood group system. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, MN; MN Is also known as mn blood group

Related symptoms:

  • Neoplasm
  • Anemia
  • Leukemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, MN; MN

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|mga7|mgca7|3-methylglutaconic aciduria, type vii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

Other less relevant matches:

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

MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Respiratory insufficiency
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

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

Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

COXPD34 is an autosomal recessive disorder resulting from a defect in mitochondrial function. The phenotype is variable, but may include congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction. Neurologic function is relatively preserved (summary by Menezes et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT Is also known as syndromic sensorineural deafness due to coxpd|syndromic sensorineural hearing loss due to coxpd

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYNDROMIC SENSORINEURAL DEAFNESS DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM Is also known as pepck2 deficiency|pck2 deficiency

Related symptoms:

  • Acidosis
  • Hypoglycemia
  • Lactic acidosis
  • Hepatic failure
  • Hepatic steatosis


SOURCES: OMIM MESH MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL; PCKDM

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hypoglycemia Decreased liver function Intrauterine growth retardation Feeding difficulties Metabolic acidosis Leukemia Vomiting Cardiomyopathy Abnormal facial shape Global developmental delay

Rare Symptoms - Less than 30% cases

Hepatomegaly Extramedullary hematopoiesis Abnormality of the liver Failure to thrive Aciduria Organic aciduria Abnormality of mitochondrial metabolism Respiratory insufficiency Hepatic failure Hypertrophic cardiomyopathy Arrhythmia Growth delay Visual impairment Cognitive impairment Ataxia Encephalopathy Elevated hepatic transaminase Microcephaly Hepatic steatosis Thrombocytopenia Edema Cerebellar atrophy Cerebral atrophy Cataract Sensorineural hearing impairment Dysgraphia Feeding difficulties in infancy Patent ductus arteriosus EEG abnormality Congestive heart failure Short stature Ascites Hypogonadism Congenital neutropenia 3-Methylglutaconic aciduria Oligohydramnios Upper motor neuron dysfunction Ventricular septal defect Pericardial effusion Dyslexia Progressive encephalopathy Acute myeloid leukemia Myeloid leukemia Opisthotonus Myelodysplasia Choreoathetosis Progressive neurologic deterioration Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Muscle weakness Hyporeflexia Hypergonadotropic hypogonadism Impaired gluconeogenesis Hearing impairment Increased serum pyruvate Ketosis Abnormality of coagulation Poor suck Congenital sensorineural hearing impairment Hyperammonemia Primary adrenal insufficiency Tachypnea Renal steatosis Epicanthus Abnormality of the mitochondrion Inability to walk Brain atrophy Macrocytic anemia Dysmetria Intellectual disability, mild Tremor Skeletal muscle atrophy Delayed speech and language development Hypertension Cerebral white matter atrophy Renal insufficiency Pancytopenia Respiratory insufficiency due to muscle weakness Difficulty running Rigidity Gliosis Pain Blue sclerae Underdeveloped nasal alae Nevus Progressive cerebellar ataxia Triangular face Retinal dystrophy Lymphadenopathy Malabsorption Dolichocephaly Muscular hypotonia Skin rash Low-set, posteriorly rotated ears Abnormality of the nervous system Hepatosplenomegaly Large fontanelles Arthralgia Kyphoscoliosis Cerebral cortical atrophy Abdominal pain Posteriorly rotated ears Delayed skeletal maturation Elevated serum creatine phosphokinase Obesity Splenomegaly Diarrhea Low-set ears Myopathy Downslanted palpebral fissures Optic atrophy Clumsiness Leukocytosis Neutropenia Flexion contracture Abnormality of movement Attention deficit hyperactivity disorder Abnormal pyramidal sign Developmental regression Neonatal hypotonia Fever Hypothyroidism Respiratory failure Hyperactivity Myoclonus Recurrent infections Dystonia Dysphagia Nystagmus Spasticity Petechiae Neoplasm Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Normocytic anemia Agenesis of cerebellar vermis Cholestatic liver disease Nuclear cataract Severe failure to thrive Sideroblastic anemia


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