Failure to thrive, and Abnormality of the kidney

Diseases related with Failure to thrive and Abnormality of the kidney

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

Top matches:

Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3 Is also known as glomerulosclerosis, focal segmental, 3, susceptibility to

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Proteinuria


SOURCES: OMIM MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO; FSGS3

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

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

Other less relevant matches:

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

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see {607364}), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). Genetic Heterogeneity of Congenital DiarrheaOther forms of congenital diarrhea include microvillus inclusion disease (DIAR2 ), caused by mutation in the MYO5B gene (OMIM ) on chromosome 18q21; a syndromic form of congenital secretory sodium diarrhea (see DIAR3, {270420}), caused by mutation in the SPINT2 gene (OMIM ) on chromosome 19q13.1; malabsorptive congenital diarrhea (DIAR4 ), caused by mutation in the NEUROG3 gene (OMIM ) on chromosome 10q21.3; congenital tufting enteropathy (DIAR5 ), caused by mutation in the EPCAM gene (OMIM ) on chromosome 2p21; early-onset chronic diarrhea (DIAR6 ), caused by mutation in the GUCY2C gene (OMIM ) on chromosome 12p13.1-p12.3; neonatal-onset chronic diarrhea (DIAR7 ) caused by mutation in the DGAT1 gene (OMIM ) on chromosome 8q24; and a nonsyndromic form of congenital secretory sodium diarrhea (DIAR8 ), caused by mutation in the SLC9A3 gene (OMIM ) on chromosome 5p15.

CONGENITAL CHLORIDE DIARRHEA Is also known as chloride diarrhea, congenital, finnish type|chloridorrhea, congenital

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios
  • Abnormality of the kidney


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CONGENITAL CHLORIDE DIARRHEA

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

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (OMIM ).

Related symptoms:

  • Failure to thrive
  • Muscular hypotonia
  • Vomiting
  • Dehydration
  • Recurrent urinary tract infections


SOURCES: OMIM MENDELIAN

More info about HYPERCALCEMIA, INFANTILE, 2; HCINF2

Microvillus inclusion disease (MVID) is a very rare and severe intestinal disease characterized by intractable neonatal secretory diarrhea persisting at bowel rest and specific histological features of the intestinal epithelium.

MICROVILLUS INCLUSION DISEASE Is also known as mvid|congenital microvillus atrophy|microvillous inclusion disease|congenital microvillous atrophy|congenital familial protracted diarrhea with enterocyte brush-border abnormalities|intractable diarrhea of infancy|microvillus inclusion disease|davidson di

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Polyhydramnios


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROVILLUS INCLUSION DISEASE

Surfactant protein C (SPC) deficiency is a rare autosomal dominant disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course. The pathophysiology of the disorder is postulated to involve intracellular accumulation of a structurally defective SPC protein (Thomas et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2 Is also known as interstitial lung disease due to surfactant protein c deficiency|desquamative interstitial pneumonitis due to surfactant protein c deficiency|pulmonary alveolar proteinosis, congenital, 2

Related symptoms:

  • Failure to thrive
  • Pain
  • Respiratory insufficiency
  • Respiratory distress
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2; SMDP2

Top 5 symptoms//phenotypes associated to Failure to thrive and Abnormality of the kidney

Symptoms // Phenotype % cases
Dehydration Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Nephrocalcinosis Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Acidosis Abdominal distention Nephrolithiasis

Rare Symptoms - Less than 30% cases

Increased circulating renin level Hyponatremia Hyperactive renin-angiotensin system Feeding difficulties Distal renal tubular acidosis Malnutrition Short stature Irritability Malabsorption Polyuria Polyhydramnios Hypercalciuria Chronic kidney disease Rickets Abnormal intestine morphology Osteomalacia Renal insufficiency Hypokalemia Hyperaldosteronism Sepsis Pruritus Villous atrophy Abnormal renal physiology Global developmental delay Hypophosphatemia Medullary nephrocalcinosis Infantile hypercalcemia Renal phosphate wasting Hypoparathyroidism Hypercalcemia Recurrent urinary tract infections Muscular hypotonia Hyperchloremic metabolic acidosis Bilateral sensorineural hearing impairment Sensorineural hearing impairment Hearing impairment Hypochloremia Hypovolemia Recurrent infections Protracted diarrhea Abnormal lung morphology Alveolar proteinosis Interstitial pneumonitis Tubulointerstitial fibrosis Recurrent bronchitis Pulmonary infiltrates Bronchitis Interstitial pulmonary abnormality Pulmonary fibrosis Clubbing Tachypnea Cyanosis Intractable diarrhea Chest pain Cough Dyspnea Respiratory failure Recurrent respiratory infections Metabolic alkalosis Respiratory distress Respiratory insufficiency Pain Abnormality of small intestinal villus morphology Abnormal delivery Secretory diarrhea Hypernatremia Alkalosis Failure to thrive in infancy Postnatal growth retardation Muscle weakness Pseudohypoaldosteronism Renal salt wasting Renal tubular dysfunction Hyperkalemia Increased body weight Hypotension Abdominal colic Abdominal pain Pathologic fracture Abnormality of metabolism/homeostasis Microscopic hematuria Focal segmental glomerulosclerosis Glomerulosclerosis Nephrotic syndrome Hematuria Stage 5 chronic kidney disease Proteinuria Hypertension Hypocalcemia Renal tubular acidosis Intestinal obstruction Anemia Growth abnormality Chronic diarrhea Abnormality of the cardiovascular system Premature birth Nephropathy Hypertonic dehydration Unexplained fevers Megacystis Nephrogenic diabetes insipidus Osteopetrosis Diabetes insipidus Polydipsia Feeding difficulties in infancy Constipation Fever Seizures Intellectual disability Periodic hypokalemic paresis Periodic paralysis Desquamative interstitial pneumonitis


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