Edema, and Acidosis

Diseases related with Edema and Acidosis

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

Top matches:

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life.

FIBRONECTIN GLOMERULOPATHY Is also known as fibronectin glomerulopathy|glomerulopathy with fibronectin deposits|glomerular nephritis, familial, with fibronectin deposits|gfnd

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Proteinuria
  • Stage 5 chronic kidney disease
  • Nephropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRONECTIN GLOMERULOPATHY

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Edema
  • Blindness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3

Other less relevant matches:

CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY Is also known as cmo ii deficiency|steroid 18-oxidase deficiency|18-oxidase deficiency|fhha1b|aldosterone deficiency due to deficiency of steroid 18-oxidase|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency ii

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Acidosis
  • Metabolic acidosis
  • Dehydration


SOURCES: OMIM MENDELIAN

More info about CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period.

GLUCOSE-GALACTOSE MALABSORPTION Is also known as monosaccharide malabsorption|sglt1 deficiency|gm

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Weight loss
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUCOSE-GALACTOSE MALABSORPTION

Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.

PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY Is also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|pdh phosphatase deficiency

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY

Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

CONGENITAL LACTASE DEFICIENCY Is also known as disaccharide intolerance ii|alactasia, congenital

Related symptoms:

  • Diarrhea
  • Carious teeth
  • Metabolic acidosis
  • Dehydration
  • Atherosclerosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL LACTASE DEFICIENCY

Diarrhea-6 is a relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis (Fiskerstrand et al., 2012).For a discussion of phenotypic and genetic heterogeneity of congenital diarrhea, see DIAR1 (OMIM ).

Related symptoms:

  • Pain
  • Diarrhea
  • Hernia
  • Abdominal pain
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC DIARRHEA DUE TO GUANYLATE CYCLASE 2C OVERACTIVITY

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.

RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1|pha i, autosomal dominant

Related symptoms:

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1

Top 5 symptoms//phenotypes associated to Edema and Acidosis

Symptoms // Phenotype % cases
Dehydration Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Nephrotic syndrome Hypertension Lactic acidosis Increased serum lactate Neonatal hypotonia Renal salt wasting Vomiting Abdominal pain Feeding difficulties Seizures Pain Global developmental delay Proteinuria Increased circulating renin level Hyponatremia Hyperkalemia Chronic diarrhea Esophagitis Volvulus Pseudohypoaldosteronism Irritability Inflammation of the large intestine Intestinal obstruction Hernia Decreased small intestinal mucosa lactase activity Lactose intolerance Fructose intolerance Atherosclerosis Carious teeth Vitamin B12 deficiency Respiratory insufficiency Muscle weakness Increased body weight Short stature Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Severe lactic acidosis Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Fatigue Bradycardia Decreased fetal movement Polyhydramnios Respiratory failure Congestive heart failure Hyperaldosteronism Renal tubular dysfunction Hypotension Decreased activity of the pyruvate dehydrogenase complex Hypertonic dehydration Muscular hypotonia of the trunk Renal cell carcinoma Pneumonia Blindness Mesangial abnormality Generalized distal tubular acidosis Edema of the lower limbs Microscopic hematuria Glomerulopathy Cerebral visual impairment Cerebral hemorrhage Glomerulonephritis Hypoalbuminemia Hematuria Nephropathy Stage 5 chronic kidney disease Renal insufficiency Status epilepticus Episodic vomiting Gait ataxia Hypernatremia Respiratory distress Dysphagia Muscular hypotonia Nystagmus Intellectual disability Hyperactive bowel sounds Abnormal oral glucose tolerance Glycosuria Growth delay Abdominal distention Malabsorption Weight loss Decreased circulating aldosterone level Severe failure to thrive Orthostatic hypotension Failure to thrive in infancy Hyperactive renin-angiotensin system


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