Anemia, and Metabolic acidosis

Diseases related with Anemia and Metabolic acidosis

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


Top matches:

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 NEPHRONOPHTHISIS 2; NPHP2


NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Low match ROLANDIC EPILEPSY


Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

ROLANDIC EPILEPSY Is also known as becrs|bre|benign rolandic epilepsy|bects|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|benign familial epilepsy of childhood with rolandic spikes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROLANDIC EPILEPSY

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Other less relevant matches:

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblA and cblB (OMIM ), which is caused by mutation in the MMAB gene (OMIM ) on 12q24. See also cblH (OMIM ), which may be a subset of cblA. The 'mut' form of MMA (OMIM ) is caused by mutation in the MUT gene on chromosome 6p. In general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA Is also known as methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cbla type|vitamin b12-responsive methylmalonic aciduria type cbla|methylmalonic acidemia, cbla type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLA

Low match VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB Is also known as vitamin b12-responsive methylmalonic aciduria, type cblb|methylmalonic acidemia, cblb type|methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about VITAMIN B12-RESPONSIVE METHYLMALONIC ACIDEMIA TYPE CBLB

Low match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

Low match 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA


3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae.

3-HYDROXY-3-METHYLGLUTARIC ACIDURIA Is also known as hydroxymethylglutaric aciduria|hmg-coa lyase deficiency|3-hydroxy-3-methylglutaryl-coa lyase deficiency|hmgcl deficiency|hl deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA

Low match PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES


Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Low match MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2


Myopathy, lactic acidosis, and sideroblastic anemia-2 is an autosomal recessive disorder of the mitochondrial respiratory chain. The disorder shows marked phenotypic variability: some patients have a severe multisystem disorder from infancy, including cardiomyopathy and respiratory insufficiency resulting in early death, whereas others present in the second or third decade of life with sideroblastic anemia and mild muscle weakness (summary by Riley et al., 2013).For a discussion of genetic heterogeneity of MLASA, see MLASA1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2

Top 5 symptoms//phenotypes associated to Anemia and Metabolic acidosis

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Aciduria Lethargy Feeding difficulties Failure to thrive Generalized hypotonia Respiratory distress Intellectual disability Hyperammonemia Thrombocytopenia Respiratory insufficiency Coma Ketonuria Feeding difficulties in infancy Myoclonus Neutropenia Ketosis Hypertension Dehydration Hypertonia Pancytopenia

Rare Symptoms - Less than 30% cases


Fatigue Microcephaly Hyperglycinemia Muscular hypotonia of the trunk Fever Abnormality of the coagulation cascade Decreased methylmalonyl-CoA mutase activity Encephalopathy Recurrent infections Decreased adenosylcobalamin Methylmalonic acidemia Ataxia Oligohydramnios Homocystinuria Tremor Spasticity Sideroblastic anemia Lactic acidosis Respiratory failure Hypoglycemia EEG abnormality Increased serum lactate Muscular hypotonia Leukopenia Hypoplasia of the corpus callosum Fetal distress Methylmalonic aciduria Spastic tetraparesis Progressive neurologic deterioration Recurrent bacterial infections Autistic behavior Renal tubular acidosis Excessive daytime somnolence Chronic metabolic acidosis Increased reactive oxygen species production Glutathione synthetase deficiency Psychotic mentation Increased level of L-pyroglutamic acid in urine Diarrhea Irritability Abnormality of the cerebral white matter Pancreatitis Apathy Hyperuricemia Recurrent hypoglycemia Unsteady gait Organic aciduria Decreased plasma carnitine Acute pancreatitis Dicarboxylic aciduria Glutaric aciduria 3-Methylglutaric aciduria Increased level of hippuric acid in urine Increased level of 3-hydroxy-3-methylglutaric acid in urine Autism Compensated hemolytic anemia Abnormality of eye movement Nonketotic hypoglycemia Epileptic encephalopathy Generalized myoclonic seizures Hypertrophic cardiomyopathy Muscle weakness Ptosis Motor delay Skeletal muscle atrophy Dysphagia Cardiomyopathy Myopathy Areflexia Elevated hepatic transaminase Cirrhosis Nystagmus Ventricular hypertrophy Left ventricular hypertrophy Progressive muscle weakness Exercise intolerance Respiratory insufficiency due to muscle weakness Shock Tachypnea Ragged-red muscle fibers Generalized amyotrophy Skeletal myopathy Strabismus Growth delay Premature birth Hemiclonic seizures Intention tremor Status epilepticus Hemiparesis Progressive microcephaly CNS hypomyelination Global brain atrophy Excessive salivation Moderate global developmental delay Abnormality of the amniotic fluid High-pitched cry Scoliosis Hypoargininemia Decreased CSF homovanillic acid Pyridoxine-responsive sideroblastic anemia EEG with burst suppression Abnormality of histidine metabolism Abnormality of tyrosine metabolism Abnormality of glycine metabolism Low APGAR score Abnormality of threonine metabolism Abnormality of arginine metabolism Tetraparesis Lymphopenia Pigmentary retinopathy Portal fibrosis Polyuria Hyperkalemia Nephronophthisis Enlarged kidney Elevated serum creatinine Tubulointerstitial nephritis Cholestatic liver disease Pulmonary insufficiency Polydipsia Hyperechogenic kidneys Oliguria Tubulointerstitial abnormality Renal cortical microcysts Absence of renal corticomedullary differentiation Chronic tubulointerstitial nephritis Hyperkalemic metabolic acidosis Abnormal facial shape Nephritis Polycystic kidney dysplasia Apnea Extramedullary hematopoiesis Intrauterine growth retardation Ventricular septal defect Edema Patent ductus arteriosus Arrhythmia Ascites Decreased liver function Pericardial effusion Renal insufficiency Situs inversus totalis Dilatation Abnormality of the kidney Abnormality of the liver Abnormal cardiac septum morphology Stage 5 chronic kidney disease Pulmonary hypoplasia Nephropathy Cholestasis Ventriculomegaly Generalized tonic-clonic seizures Sepsis Asthenia Macrocytic anemia Thrombocytosis Severe combined immunodeficiency Antinuclear antibody positivity Megaloblastic anemia Anisocytosis Hemolytic-uremic syndrome Folate deficiency Septic arthritis Recurrent urinary tract infections Decreased methylcobalamin Thiamine-responsive megaloblastic anemia Delayed speech and language development Dysarthria Splenomegaly Nausea Falls Hemolytic anemia Combined immunodeficiency Bilateral sensorineural hearing impairment Poor speech Abnormality of the mitochondrion Abdominal distention Brain atrophy Postnatal microcephaly Clonus Muscle fibrillation Enterocolitis Prenatal movement abnormality Abnormality of mitochondrial metabolism Hearing impairment Decreased antibody level in blood Sensorineural hearing impairment Intellectual disability, mild Immunodeficiency Pneumonia Arthritis Pallor Autoimmunity Retinopathy Proximal tubulopathy



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