Edema, and Metabolic acidosis

Diseases related with Edema and Metabolic acidosis

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

Top 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

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

Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

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

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS Is also known as autosomal recessive distal rta|rta, distal, autosomal recessive|ar drta|renal tubular acidosis, autosomal recessive, with preserved hearing

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS

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

Enteric anendocrinosis is a very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.

ENTERIC ANENDOCRINOSIS Is also known as enteric anendocrinosis|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Acidosis
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ENTERIC ANENDOCRINOSIS

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.

GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as pha i, autosomal recessive|autosomal recessive pseudohypoaldosteronism type 1

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Recurrent respiratory infections
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1

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

Symptoms // Phenotype % cases
Acidosis Very Common - Between 80% and 100% cases
Dehydration Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Vomiting Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hyponatremia Hyperkalemia Renal salt wasting Increased circulating renin level

Rare Symptoms - Less than 30% cases

Growth delay Hypotension Hyperaldosteronism Hyperactive renin-angiotensin system Pseudohypoaldosteronism Hyperchloremic metabolic acidosis Feeding difficulties in infancy Patent ductus arteriosus Lactic acidosis Malabsorption Chronic diarrhea Abnormal facial shape Orthostatic hypotension Distal renal tubular acidosis Osteomalacia Rickets Hypokalemia Nephrocalcinosis Brachydactyly Nephrolithiasis Bilateral sensorineural hearing impairment Renal insufficiency Sensorineural hearing impairment Hearing impairment Severe failure to thrive Decreased circulating aldosterone level Low-set ears Ventriculomegaly Weight loss Redundant neck skin Recurrent respiratory infections Abnormal cellular phenotype Cholestatic liver disease Portal hypertension Type I diabetes mellitus Decreased body weight Sepsis Hypokinesia Agenesis of corpus callosum Redundant skin Increased serum lactate Lethargy Small for gestational age Failure to thrive in infancy Neonatal hypotonia Elevated hepatic transaminase Renal tubular dysfunction Abnormal oral glucose tolerance Increased body weight Abdominal pain Vitamin B12 deficiency Volvulus Esophagitis Inflammation of the large intestine Intestinal obstruction Irritability Hernia Anemia Pain Decreased small intestinal mucosa lactase activity Lactose intolerance Fructose intolerance Atherosclerosis Carious teeth Hyperactive bowel sounds Seizures Hypertension Hypertonic dehydration Oligohydramnios Abdominal distention Feeding difficulties Short stature Sideroblastic anemia Extramedullary hematopoiesis Pericardial effusion Decreased liver function Ascites Intrauterine growth retardation EEG abnormality Arrhythmia Glycosuria Thrombocytopenia Hypernatremia Respiratory insufficiency Ventricular septal defect Recurrent lower respiratory tract infections


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