Failure to thrive, and Acidosis

Diseases related with Failure to thrive and Acidosis

In the following list you will find some of the most common rare diseases related to Failure to thrive and 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

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19

Other less relevant matches:

Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9 Is also known as coxpd9

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 9

Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8 Is also known as cardiomyopathy, hypertrophic mitochondrial, fatal infantile|coxpd8

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Motor delay
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 8

Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive.

GLUTARIC ACIDEMIA TYPE 3 Is also known as glutaryl-coa oxidase deficiency|ga iii|glutaric aciduria type 3

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Vomiting
  • Diarrhea
  • Acidosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GLUTARIC ACIDEMIA TYPE 3

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

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT Is also known as rta, distal type, autosomal dominant|renal tubular acidosis i|rta, gradient type|rta, classic type

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Acidosis
  • Postnatal growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT

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

Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter.

CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME Is also known as mpcd

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY-HYPOTONIA-LACTIC ACIDOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Acidosis

Symptoms // Phenotype % cases
Metabolic acidosis Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Increased serum lactate Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Acidosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Lactic acidosis Diarrhea Vomiting Feeding difficulties Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases

Congestive heart failure Rickets Elevated hepatic transaminase Distal renal tubular acidosis Muscle weakness Respiratory distress Hepatomegaly Generalized hypotonia Nephrocalcinosis Increased circulating renin level Nephrolithiasis Renal salt wasting Hyperkalemia Hyponatremia Osteomalacia Increased body weight Hypercalciuria Hypocalcemia Postnatal growth retardation Hyperactive renin-angiotensin system Pseudohypoaldosteronism Renal tubular dysfunction Hyperaldosteronism Pathologic fracture Periodic hypokalemic paresis Renal tubular acidosis Muscular hypotonia Abnormal mitochondrial shape Abnormality of the mitochondrion Severe muscular hypotonia Cyanosis Myopathy Respiratory insufficiency Hyperchloremic metabolic acidosis Osteopetrosis Hypokalemia Bilateral sensorineural hearing impairment Renal insufficiency Sensorineural hearing impairment Hearing impairment Short stature Periodic paralysis Hypotension Generalized muscle weakness Glutaric acidemia Neonatal hypotonia Failure to thrive in infancy Orthostatic hypotension Severe failure to thrive Decreased circulating aldosterone level Weight loss Malabsorption Abdominal distention Chronic diarrhea Glycosuria Hypernatremia Abnormal oral glucose tolerance Hypertonic dehydration Hyperactive bowel sounds Gastroesophageal reflux Hepatic steatosis Glutaric aciduria Histiocytoid cardiomyopathy Hyperthyroidism Abnormality of mitochondrial metabolism Goiter Aciduria Hypertension Staring gaze Pulmonary hypoplasia Severe lactic acidosis EEG abnormality Motor delay Hyperalaninemia Abnormality of the liver Dyspnea Global developmental delay Low-output congestive heart failure


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