Failure to thrive, and Edema

Diseases related with Failure to thrive and Edema

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

Top matches:

Related symptoms:

  • Failure to thrive
  • Edema
  • Anal atresia
  • Hypoproteinemia


SOURCES: OMIM MENDELIAN

More info about TRYPSINOGEN DEFICIENCY

Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.

CONGENITAL ENTEROPATHY DUE TO ENTEROPEPTIDASE DEFICIENCY Is also known as congenital enterokinase deficiency|enteropeptidase deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Edema
  • Diarrhea
  • Malabsorption


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ENTEROPATHY DUE TO ENTEROPEPTIDASE DEFICIENCY

FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY Is also known as familial or idiopathic restrictive cardiomyopathy

Related symptoms:

  • Failure to thrive
  • Hepatomegaly
  • Fatigue
  • Dyspnea
  • Ascites


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY

Other less relevant matches:

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME Is also known as otulipenia|oras|otulin deficiency|otulin-related autoinflammatory syndrome

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE-ONSET PERIODIC FEVER-PANNICULITIS-DERMATOSIS SYNDROME

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency|pfic5

Related symptoms:

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

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

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

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Is also known as steroid 18-hydroxylase deficiency|cmo i|aldosterone deficiency due to defect in steroid 18-hydroxylase|18-hydroxylase deficiency|18-oxidase deficiency|aldosterone deficiency i|fhha1|hyperreninemic hypoaldosteronism, familial, 1|aldosterone synthase defici

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

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

Symptoms // Phenotype % cases
Dehydration Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Malabsorption Uncommon - Between 30% and 50% cases
Failure to thrive in infancy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Renal salt wasting Hyponatremia

Rare Symptoms - Less than 30% cases

Decreased circulating aldosterone level Vomiting Abdominal distention Fever Acidosis Metabolic acidosis Hyperkalemia Increased circulating renin level Ascites Abnormality of metabolism/homeostasis Hypoproteinemia Hypochloremia Hypernatriuria Hypokalemic metabolic alkalosis Decreased glomerular filtration rate Metabolic alkalosis Hyporeflexia Polyhydramnios Alkalosis Small for gestational age Premature birth Hypokalemia Hypercalciuria Hyperaldosteronism Polyuria Increased urinary potassium Nephrolithiasis Fetal polyuria Chronic diarrhea Hypotension Feeding difficulties in infancy Feeding difficulties Hyperactive bowel sounds Hypertonic dehydration Abnormal oral glucose tolerance Hypernatremia Glycosuria Weight loss Hyperchloriduria Severe failure to thrive Orthostatic hypotension Abdominal colic Malnutrition Motor delay Irritability Abdominal pain Hypokalemic hypochloremic metabolic alkalosis Renal insufficiency Intellectual disability Muscular hypotonia Palpitations Myalgia Arthralgia Immunodeficiency Abnormal ventricular filling Increased pulmonary vascular resistance Peripheral edema Abnormal left ventricle morphology Tricuspid regurgitation Heart murmur Tachypnea Atrial fibrillation Skin rash Dyspnea Fatigue Hepatomegaly Intestinal lymphoid nodular hyperplasia Hypoproteinemic edema Intestinal lymphangiectasia Exocrine pancreatic insufficiency Celiac disease Steatorrhea Anal atresia Scarring Lymphadenopathy Sensorineural hearing impairment Cholestasis Generalized hypotonia Short stature Intraventricular hemorrhage Micronodular cirrhosis Prolonged prothrombin time Conjugated hyperbilirubinemia Intrahepatic cholestasis Abnormality of the coagulation cascade Hyperammonemia Hyperbilirubinemia Hepatic failure Vasculitis Cirrhosis Abnormality of the liver Elevated hepatic transaminase Hypoglycemia Jaundice Panniculitis Neutrophilia Joint swelling Leukocytosis Lipodystrophy Episodic fever


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