Anemia, and Acidosis

Diseases related with Anemia and Acidosis

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


Top matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. 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. 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 blood group system (see {111300}). 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, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match DIAMOND-BLACKFAN ANEMIA 17; DBA17


Related symptoms:

  • Anemia
  • Hyperpigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 17; DBA17

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

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Other less relevant matches:

Low match CAD-CDG


CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

CAD-CDG Is also known as cdg syndrome type iz|cdg-iz|congenital disorder of glycosylation, type iz, formerly|congenital disorder of glycosylation type 1z|carbohydrate deficient glycoprotein syndrome type iz|cdg1z|cdg1z, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Anemia
  • Encephalopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAD-CDG

Low match HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Low match INTERSTITIAL LUNG AND LIVER DISEASE; ILLD


Interstitial lung and liver disease is an autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood. Pathologic examination of lung lavage is consistent with pulmonary alveolar proteinosis (summary by Hadchouel et al., 2015).

INTERSTITIAL LUNG AND LIVER DISEASE; ILLD Is also known as infantile liver failure syndrome 2, formerly|pulmonary alveolar proteinosis, reunion island|ilfs2, formerly

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Motor delay
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about INTERSTITIAL LUNG AND LIVER DISEASE; ILLD

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

Low match HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY


Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.

HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY Is also known as aconitase deficiency|iscu myopathy|iron-sulfur cluster deficiency myopathy|myopathy with deficiency of succinate dehydrogenase and aconitase|myopathy with exercise intolerance, swedish type|myoglobinuria due to abnormal glycolysis

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Fatigue
  • Respiratory distress
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS DUE TO ISCU DEFICIENCY

Low match HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME


Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.

HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME Is also known as diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia

Related symptoms:

  • Growth delay
  • Anemia
  • Intrauterine growth retardation
  • Diarrhea
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOPLASTIC PANCREAS-INTESTINAL ATRESIA-HYPOPLASTIC GALLBLADDER SYNDROME

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8


Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Top 5 symptoms//phenotypes associated to Anemia and Acidosis

Symptoms // Phenotype % cases
Lactic acidosis Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Intrauterine growth retardation Dyspnea

Rare Symptoms - Less than 30% cases


Elevated hepatic transaminase Respiratory insufficiency Ascites Hepatic failure Decreased liver function Respiratory distress Hepatic steatosis Hepatomegaly Developmental regression Abnormality of the liver Sideroblastic anemia Encephalopathy Macrocytic anemia Intellectual disability Growth delay Skeletal muscle atrophy Muscle weakness Exercise intolerance Maternal diabetes Rhabdomyolysis Ketoacidosis Myoglobinuria Mitochondrial myopathy Severe intrauterine growth retardation Iron deficiency anemia Increased muscle fatiguability Anteriorly placed anus Increased intramyocellular lipid droplets Tracheoesophageal fistula Hyperglycemia Hyperbilirubinemia Gastrointestinal hemorrhage Intestinal malrotation Sepsis Malabsorption Diabetes mellitus Diarrhea Abnormal iron deposition in mitochondria Decreased activity of mitochondrial complex I Decreased activity of mitochondrial complex III Decreased activity of mitochondrial complex II Subsarcolemmal accumulations of abnormally shaped mitochondria Neoplasm Absent gallbladder Duodenal atresia Progressive neurologic deterioration Irritability Lethargy Ophthalmoplegia Neurodegeneration Optic disc pallor Tetraparesis Exotropia Cerebral atrophy Spastic tetraparesis External ophthalmoplegia Leukoencephalopathy Failure to thrive in infancy Stridor Brisk reflexes Respiratory failure Dystonia Intestinal atresia Acholic stools Biliary atresia Pancreatic hypoplasia Meckel diverticulum Muscle cramps Annular pancreas Diabetic ketoacidosis Jejunal atresia Hypertonia Ataxia Nystagmus Spasticity Hyperreflexia Dysarthria Gait disturbance Hypoplasia of the corpus callosum Palpitations Delayed gross motor development Tachycardia Global brain atrophy Patent ductus arteriosus Thrombocytopenia Edema Ventricular septal defect Hypertension Schistocytosis Anisopoikilocytosis Abnormal glycosylation Normocytic anemia Poikilocytosis Acanthocytosis Anisocytosis Renal tubular acidosis Hyperammonemia EEG abnormality Broad-based gait Status epilepticus Epileptic encephalopathy Brain atrophy Poor speech Abnormality of the mitochondrion Difficulty running Dysmetria Intellectual disability, mild Tremor Visual impairment Delayed speech and language development Hyperpigmentation of the skin Arrhythmia Metabolic acidosis Hypertrophic cardiomyopathy Sensorineural hearing impairment Proximal muscle weakness Elevated serum creatine phosphokinase Dilatation Myopathy Cardiomyopathy Fatigue Long toe Acute hepatic failure Microcytic anemia Long fingers Abnormality of the coagulation cascade Full cheeks Frontal bossing Microcephaly Oligohydramnios Alveolar proteinosis Severe failure to thrive Interstitial pulmonary abnormality Clubbing Aminoaciduria Abnormal lung morphology Cholestasis Cirrhosis Cough Hypothyroidism Vomiting Motor delay Extramedullary hematopoiesis Pericardial effusion Abnormality of the periventricular white matter



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