"Hartnup Disease" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
| Descriptor ID |
D006250
|
| MeSH Number(s) |
C10.228.140.163.100.355 C12.777.419.815.885.457 C13.351.968.419.815.885.625 C16.320.565.151.355 C16.320.565.189.355 C16.320.565.861.885.457 C18.452.132.100.355 C18.452.648.151.355 C18.452.648.189.355
|
| Concept/Terms |
Hartnup Disease- Hartnup Disease
- Neutral Amino Acid Transport Defect
- Hartnup Disorder
- Transport Disorder, Neutral Amino Acid
- Transport Disorder, Neutral Amino Acids
- Amino Acid Transport Disorder, Neutral
- Neutral Amino Acid Transport Disorder
|
Below are MeSH descriptors whose meaning is more general than "Hartnup Disease".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Hartnup Disease [C10.228.140.163.100.355]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Renal Tubular Transport, Inborn Errors [C12.777.419.815]
- Renal Aminoacidurias [C12.777.419.815.885]
- Hartnup Disease [C12.777.419.815.885.457]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]
- Renal Aminoacidurias [C13.351.968.419.815.885]
- Hartnup Disease [C13.351.968.419.815.885.625]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Transport Disorders, Inborn [C16.320.565.151]
- Hartnup Disease [C16.320.565.151.355]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Hartnup Disease [C16.320.565.189.355]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Renal Aminoacidurias [C16.320.565.861.885]
- Hartnup Disease [C16.320.565.861.885.457]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Hartnup Disease [C18.452.132.100.355]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Transport Disorders, Inborn [C18.452.648.151]
- Hartnup Disease [C18.452.648.151.355]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Hartnup Disease [C18.452.648.189.355]
Below are MeSH descriptors whose meaning is more specific than "Hartnup Disease".
This graph shows the total number of publications written about "Hartnup Disease" by people in this website by year, and whether "Hartnup Disease" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Hartnup Disease" by people in Profiles.
-
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019 12; 179(12):2459-2468.
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Spontaneous scalp arteriovenous fistula in a child with hartnup disease. J Endovasc Ther. 2004 Jun; 11(3):348-50.