Low-set ears, and Acidosis

Diseases related with Low-set ears and Acidosis

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

Top matches:

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

Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine.

GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY Is also known as glutathionuria|gtg deficiency|ggt deficiency|gamma-glutamyltransferase deficiency|gamma-glutamyltranspeptidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Strabismus
  • Low-set ears


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GAMMA-GLUTAMYL TRANSPEPTIDASE DEFICIENCY

Other less relevant matches:

The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growthand developmental delay, facial dysmorphism, and lactic acidemia.

2P21 MICRODELETION SYNDROME Is also known as 2p21 deletion syndrome|monosomy 2p21|del(2)(p21)

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 2P21 MICRODELETION SYNDROME

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.

HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1 Is also known as hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to coxpd1

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HEPATOENCEPHALOPATHY DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 1

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

Top 5 symptoms//phenotypes associated to Low-set ears and Acidosis

Symptoms // Phenotype % cases
Metabolic acidosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Intellectual disability Lactic acidosis Aciduria Muscular hypotonia Microcephaly Vomiting Hypertelorism Increased serum lactate Lethargy Small for gestational age

Rare Symptoms - Less than 30% cases

Frontal bossing Strabismus Hyperreflexia Intellectual disability, moderate Neutropenia Epicanthus Depressed nasal bridge Low-set, posteriorly rotated ears Hypoglycemia Ventricular septal defect Feeding difficulties High palate Anemia Megaloblastic anemia Hip dysplasia Hyperlipidemia Abnormal facial shape Feeding difficulties in infancy Hypokinesia Redundant neck skin Muscular hypotonia of the trunk Edema Delayed myelination Patent ductus arteriosus Agenesis of corpus callosum Cardiomyopathy Hypoplasia of the corpus callosum Elevated hepatic transaminase Decreased methionine synthase activity Malnutrition Megaloblastic bone marrow Decreased adenosylcobalamin Basal ganglia cysts Cystathioninuria Cystathioninemia Decreased methylcobalamin Downslanted palpebral fissures Atrial septal defect Splenomegaly Immunodeficiency Wide nasal bridge Glossitis Hyperhomocystinemia Rheumatoid arthritis Enterocolitis Abnormality of the skin Protein-losing enteropathy Pancytopenia Psychosis Incoordination Macrocytic anemia Abnormality of the liver Juvenile rheumatoid arthritis Stomatitis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Villous atrophy Recurrent respiratory infections Abnormality of the ureter Hematuria Cholestasis Respiratory insufficiency Hypertonia Abnormal intestine morphology Encephalopathy Small hand Bradykinesia Decreased liver function Intrauterine growth retardation Global brain atrophy Sepsis Diarrhea Pain Poor eye contact Progressive encephalopathy Increased CSF lactate Hypercholesterolemia Hepatomegaly Meningitis Folate-unresponsive megaloblastic anemia Aminoaciduria Fulminant hepatic failure Abnormal toenail morphology Anisocytosis Poikilocytosis Impaired T cell function Oroticaciduria Orotic acid crystalluria Motor delay Pyrimidine-responsive megaloblastic anemia Reduced orotidine 5-prime phosphate decarboxylase activity Nystagmus Spasticity Hyponatremia Hypoalbuminemia Skin rash Microtia Ichthyosis Developmental regression Hepatocellular carcinoma Intellectual disability, mild Abnormality of metabolism/homeostasis Carcinoma Bruising susceptibility Asthma Heterotopia Poor coordination Talipes equinovarus Hypogonadism Decreased fetal movement Long eyelashes Nephrolithiasis Hypocalcemia Nasal speech Behavioral abnormality Tremor Mitochondrial respiratory chain defects Hypertrophic cardiomyopathy Brachydactyly Ventriculomegaly Neonatal hypotonia Redundant skin Posteriorly rotated ears Retrognathia Dilated cardiomyopathy Chronic metabolic acidosis Ascites Tetraplegia Spastic tetraplegia Leukoencephalopathy Generalized edema Abnormality of the renal tubule Abnormality of the amniotic fluid Cystinuria Short stature Arthritis Conjugated hyperbilirubinemia Nephropathy Sloping forehead Nephrocalcinosis Lissencephaly Renal tubular acidosis Right ventricular hypertrophy Cholestatic liver disease Jaundice Nephrogenic diabetes insipidus Giant cell hepatitis Talipes calcaneovalgus Ataxia Thrombocytopenia Abnormal heart morphology Thin upper lip vermilion Arthrogryposis multiplex congenita Hyperglycerolemia Cryptorchidism Hypertriglyceridemia Myopathy Osteoporosis Diabetes mellitus Muscular dystrophy Downturned corners of mouth Coma Adrenal insufficiency Increased urinary glycerol Loss of consciousness Pathologic fracture Ketoacidosis Adrenal hypoplasia Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Intractable diarrhea


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