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Items: 5

1.

Branchiootorenal syndrome 1

Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. [from GeneReviews]

MedGen UID:
1632634
Concept ID:
C4551702
Disease or Syndrome
2.

Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

MedGen UID:
376665
Concept ID:
C1849821
Disease or Syndrome
3.

Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Cytosolic phosphoenolpyruvate carboxykinase deficiency causes a defect in gluconeogenesis that results in a 'biochemical signature' of fasting hypoglycemia with high tricarboxylic acid cycle intermediate excretion, particularly of fumarate. Other biochemical anomalies that may be seen during metabolic crisis include ketonuria, dicarboxylic aciduria, and urea cycle dysfunction (Vieira et al., 2017). See PCKDM (261650) for a discussion of mitochondrial PCK (PEPCK2; 614095) deficiency. [from OMIM]

MedGen UID:
1801754
Concept ID:
C5574905
Disease or Syndrome
4.

Visceral steatosis, congenital

MedGen UID:
90962
Concept ID:
C0341447
Pathologic Function
5.

Renal steatosis

Abnormal fat accumulation in the kidneys. [from HPO]

MedGen UID:
867423
Concept ID:
C4021796
Disease or Syndrome
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