Failure to thrive, and Abnormality of the kidney

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: ORPHANET MESH OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM MENDELIAN