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Items: 9

1.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Affected children are delayed in sitting and most never walk. Within the first few years, extrapyramidal involvement (e.g., dystonia, choreoathetosis, opisthotonos) and pyramidal involvement (e.g., spasticity, hyperreflexia, extensor plantar reflexes) become evident. Cognitive impairment and behavioral disturbances emerge between ages two and three years. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Gouty arthritis may occur later in the disease. Related disorders with less severe manifestations include hyperuricemia with neurologic dysfunction but no self-injurious behavior and hyperuricemia alone, sometimes with acute renal failure. [from GeneReviews]

MedGen UID:
9721
Concept ID:
C0023374
Disease or Syndrome
2.

Hyperuricemia

An abnormally high level of uric acid in the blood. [from HPO]

MedGen UID:
149260
Concept ID:
C0740394
Disease or Syndrome
3.

Hyperuricosuria

An abnormally high level of uric acid in the urine. [from HPO]

MedGen UID:
182691
Concept ID:
C0948643
Finding
4.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
107838
Concept ID:
C0557874
Finding; Mental or Behavioral Dysfunction
5.

Self-mutilation

Aggression towards oneself. [from HPO]

MedGen UID:
88371
Concept ID:
C0085271
Mental or Behavioral Dysfunction
6.

Anemia

A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
7.

Choreoathetosis

Abnormal movement characterized by involuntary jerking and writhing affecting the limbs, trunk, and facial muscles. [from NCI]

MedGen UID:
39313
Concept ID:
C0085583
Disease or Syndrome
8.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
9.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
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