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Items: 14

1.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [GOC:vw, ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
2.

Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome

Syndrome that associates dilated cardiomyopathy with hypergonadotropic hypogonadism. Prevalence is unknown but less than 20 affected families have been described in the literature so far. Occasional findings include a broad nasal base, blepharoptosis, mild intellectual deficit, mild skeletal anomalies and metabolic abnormalities. Mutations in the LMNA gene were recently detected in two sisters with an overlapping clinical phenotype but with additional findings that included a narrow chest, sloping shoulders, aged appearance of the hands and feet and facial dysmorphism (beaked nose and severe retrognathia). Transmission appears to be autosomal recessive. [from SNOMEDCT_US]

MedGen UID:
167104
Concept ID:
C0796083
Disease or Syndrome
3.

Unconjugated hyperbilirubinemia

MedGen UID:
82786
Concept ID:
C0268306
Disease or Syndrome
4.

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

MedGen UID:
162901
Concept ID:
C0796031
Disease or Syndrome
5.

Rotor syndrome

Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia which usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation. [from GeneReviews]

MedGen UID:
67435
Concept ID:
C0220991
Disease or Syndrome
6.

Abnormality of purine metabolism

MedGen UID:
870885
Concept ID:
C4025346
Finding
7.

Abnormality of DNA repair

MedGen UID:
867470
Concept ID:
C4021848
Cell or Molecular Dysfunction
8.

Disorder of bilirubin metabolism and excretion

MedGen UID:
832293
Concept ID:
CN227200
Disease or Syndrome
9.

Fibrosis AND/OR repair abnormality

MedGen UID:
690040
Concept ID:
C1265981
Pathologic Function
10.

Does not use lift

MedGen UID:
661753
Concept ID:
C0578311
Finding
11.

Does use lift

MedGen UID:
661752
Concept ID:
C0578310
Finding
12.

Crigler-Najjar syndrome

Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.
[from GHR]

MedGen UID:
468484
Concept ID:
CN119421
Disease or Syndrome
13.

Gene Amplification Abnormality

An increase in the copy number of a particular gene. This type of abnormality can be either inherited or somatic. [from NCI]

MedGen UID:
317152
Concept ID:
C1705759
Cell or Molecular Dysfunction
14.

Crigler Najjar syndrome, type 1

Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can lead to a condition called kernicterus, which is a form of brain damage caused by the accumulation of unconjugated bilirubin in the brain and nerve tissues. Babies with kernicterus are often extremely tired (lethargic) and may have weak muscle tone (hypotonia). These babies may experience episodes of increased muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to other neurological problems, including involuntary writhing movements of the body (choreoathetosis), hearing problems, or intellectual disability.Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, and affected individuals can die in childhood due to kernicterus, although with proper treatment, they may survive longer. Type 2 (CN2) is less severe. People with CN2 are less likely to develop kernicterus, and most affected individuals survive into adulthood.
[from GHR]

MedGen UID:
41346
Concept ID:
C0010324
Disease or Syndrome
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