Abnormality of the skeletal system, and Aciduria

Diseases related with Abnormality of the skeletal system and Aciduria

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Aciduria that can help you solving undiagnosed cases.


Top matches:

Low match BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA


Beta-aminoisobutyric acid (BAIB) is a product of pyrimidine catabolism. Excretion of BAIB in urine is a benign 'metabolic polymorphism' present in many human populations (Scriver and Perry, 1989).

BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA Is also known as hyper-beta-aminoisobutyric aciduria|beta-aminoisobutyric acid, urinary excretion of|baib urinary excretion

Related symptoms:

  • Aminoaciduria


SOURCES: MESH OMIM MENDELIAN

More info about BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A


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

Low match GLUTATHIONE SYNTHETASE DEFICIENCY WITHOUT 5-OXOPROLINURIA


Two forms of glutathione synthetase deficiency have been described; a mild form, referred to as glutathione synthetase deficiency of erythrocytes, causing hemolytic anemia, and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (OMIM ).

Related symptoms:

  • Anemia
  • Abnormality of the nervous system
  • Hemolytic anemia
  • Aciduria
  • Nonspherocytic hemolytic anemia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITHOUT 5-OXOPROLINURIA

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Other less relevant matches:

Low match METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT


Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.

METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT Is also known as methylmalonic acidemia, tcb1r type|methylmalonic acidemia, tcbir type|methylmalonic acidemia, tcblr type

Related symptoms:

  • Visual loss
  • Aciduria
  • Methylmalonic aciduria


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT

Low match HYPERPROLINEMIA TYPE 2


Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay.

HYPERPROLINEMIA TYPE 2 Is also known as delta1-pyrroline-5-carboxylate dehydrogenase deficiency|hpii|1-pyrroline-5-carboxylate dehydrogenase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Intellectual disability, mild
  • Hyperglycinemia
  • Hyperglycinuria


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERPROLINEMIA TYPE 2

Low match PRIMARY HYPEROXALURIA TYPE 3


Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis.

Related symptoms:

  • Pain
  • Hematuria
  • Nephrocalcinosis
  • Dysuria
  • Abnormal renal physiology


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY HYPEROXALURIA TYPE 3

Low match NEPHROLITHIASIS, CALCIUM OXALATE; CAON


Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (OMIM ) and primary hyperoxaluria (see {259900}) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts.Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.

NEPHROLITHIASIS, CALCIUM OXALATE; CAON Is also known as kidney stones|urolithiasis, calcium oxalate

Related symptoms:

  • Renal insufficiency
  • Nephrolithiasis
  • Hypercalciuria
  • Hyperparathyroidism
  • Acute kidney injury


SOURCES: OMIM MENDELIAN

More info about NEPHROLITHIASIS, CALCIUM OXALATE; CAON

Low match D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA 2; D2HGA2

Low match CYSTATHIONINURIA


Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases.

CYSTATHIONINURIA Is also known as cystathione gamma-lyase deficiency syndrome|gamma-cystathionase deficiency|cystathionase deficiency

Related symptoms:

  • Diabetes mellitus
  • Aciduria
  • Glycosuria
  • Neuroblastoma
  • Hyperglycinemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYSTATHIONINURIA

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3


MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3 Is also known as mitochondrial complex v (atp synthase) deficiency, atp5e type

Related symptoms:

  • Intellectual disability
  • Peripheral neuropathy
  • Cardiomyopathy
  • Intellectual disability, mild
  • Acidosis


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3; MC5DN3

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Aciduria

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Lactic acidosis Rare - less than 30% cases
Intellectual disability Rare - less than 30% cases
Intellectual disability, mild Rare - less than 30% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Aciduria. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hyperglycinemia Cystinuria Calcium oxalate nephrolithiasis Hypertrophic cardiomyopathy Acidosis Hyperoxaluria Generalized hypotonia Nephrolithiasis Hypercalciuria Hyperparathyroidism Renal insufficiency Abnormality of urine homeostasis Acute kidney injury Primary hyperparathyroidism Aminoaciduria Ureteropelvic junction obstruction Global developmental delay Pollakisuria D-2-hydroxyglutaric aciduria Diabetes mellitus Glycosuria Neuroblastoma Nonketotic hyperglycinemia Galactosuria Cystathioninuria Hyperhistidinemia Peripheral neuropathy 3-Methylglutaconic aciduria Muscular hypotonia Prolinuria Abnormal renal physiology Hemolytic anemia Muscle weakness Respiratory insufficiency Hyporeflexia Inability to walk Respiratory insufficiency due to muscle weakness Abnormality of mitochondrial metabolism Organic aciduria Cerebral white matter atrophy Anemia Abnormality of the nervous system Nonspherocytic hemolytic anemia Dysuria Glutathione synthetase deficiency Glyoxalase deficiency Visual loss Methylmalonic aciduria Hyperglycinuria Hydroxyprolinuria Hyperprolinemia Pain Hematuria Nephrocalcinosis Decreased activity of mitochondrial ATP synthase complex



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